Renal/Urinary/Electrolytes

4018/4059: Minimal Change Disease

 Most common cause of nephrotic syndrome in children under age 10 (very rare in teenage/adult years)
 Presentation: fatigue, edema (orbital, facial, genital, sacral, LE; often mild in morning progressing to
prominent through the day), & hypoalbuminemia
 Pathophysiology: T-cell damage to podocytes of glomerular basement membrane (allows protein
permeability). Often idiopathic.
o Primary (idiopathic) is the most common cause
o Secondary causes: Hodgkin Lymphoma (Reed-Sternburg Cells)/Thymoma/T-cell leukemia
 Labs: Urine dipstick (shows protein), 24hr urine collection/random urinalysis (nephrotic range
proteinuria, no hematuria), low serum bicarbonate, high serum Cl-
 Biopsy: indicated for children >10yr or if not responding to empiric steroids
o Light: no pathologic changes noted
o Immuno: normal glomeruli without deposition of antibodies
o Electron: diffuse effacement of podocyte foot processes
 Dx: presentation + labs; biopsy only indicated in some situations
 Tx: empiric steroid administration (extremely steroid responsive)
o Further workup needed for those not responding to steroids

4828: Renal Tubular Acidosis

 Presentation:
o Infants/Young children: failure to thrive (acidic environment = poor cell division), poor weight
gain, normal anion gap metabolic acidosis + hyperchloremia
o Older children/Adults: recurrent calculi, muscle weakness, bone pain, myalgias
 Nephrocalcinosis causing polyuria (failure of nephron)
 Normal anion gap metabolic acidosis + hyperchloremia
 Pathophysiology: genetic disorders that make the kidneys unable to maintain normal acid-base
balance causing acidification of the blood/serum (acidosis)
 Subtypes
o Type 1 (Distal): poor Hydrogen secretion into urine causing retention of H+ ions
 Metabolic acidosis; more alkaline urine (pH >5.5); low-normal serum K+
 (+)urine anion gap (urine Na+ + urine K+ - urine Cl-)
 Often associated with nephrolithiasis/family Hx of nephrolithiasis (genetic disorders)
 Medications or autoimmune etiology are also possible
 Tx: low dose oral alkaline solutions
o Type 2 (Proximal): poor HCO3- resorption causing wasting in urine
 Metabolic acidosis; normal acidic urine (pH <5.5); low-normal serum K+
 May be part of Fanconi syndrome (glucosuria, phosphaturia, aminoaciduria, K-wasting)
 Tx: high dose oral alkaline solutions
o Type 4: transient poor response by nephron to aldosterone (failure of Na-K exchange)
 Metabolic acidosis; more acidic urine (pH <5.5); high serum K+
 Associated with obstructive uropathy/congenital adrenal hyperplasia/poorly controlled
Diabetes Mellitus
 Tx: low dose oral alkaline solution + furosemide (lower K+)
 Labs: serum electrolytes, urine pH/urinalysis
 Dx: presentation + labs
 Tx: (see subtypes)
3552: Wilms Tumor (Nephroblastoma)
 The most common renal malignancy in childhood (typically age 2-5yr); often sporadic
 Presentation: asymptomatic firm/smooth abdominal mass that does not cross the midline. Classically
found by mom during bath time; less commonly symptomatic with abdominal pain, HTN, hematuria,
and fever. Rarely presents with pulmonary metastases/lung symptoms
o WAGR syndrome: Wilms Tumor, Aniridia (no iris), genitourinary malformation, and retardation
o Beckwith Widemann Syndrome: Wilms Tumor, macroglossia, hemi-hypertrophy, organomegaly
o Denys-Drash Syndrome: Wilm’s tumor, progressive renal failure, male pseudohermaphrodism
 Pathophysiology: deletion of WT1 (WAGR), mutation of WT1 (B-W S), or mutation of WT2 (D-D S)
causing abnormal proliferation of the metanephric blastema to form the tumor
 Imaging:
o Abdominal ultrasound – best 1st imaging to help characterize
o CT chest/abdomen with contrast – fully characterize tumor & check for lung metastases
 Dx: clinical presentation + imaging
 Tx: tumor excision/nephrectomy + chemotherapy +/- radiation
o Great prognosis with treatment (90% 5-year survival)
o Rarely stage V disease (bilateral tumors) making for a less favorable prognosis

2513/3548: Enuresis
 Enuresis (bed wetting) is urinary incontinence >x2/week in a child age >5yr
o Normal until age 5; girls often potty trained earlier than boys
o Primary: child never achieved “dryness”
o Secondary: child achieved “dryness” for >6 months with re-emergence of bedwetting
 Genetic – strong genetic link for familial enuresis on chromosome 13
 Psychologic stress – behavior regression/mood lability/change to environment (birth of
a new child, new home, first time at school, etc.)
 UTI – dysuria, hesitancy, urgency, abdominal/flank pain
 Diabetes mellitus – polyuria, polydipsia, polyphagia, weight loss, lethargy, candidiasis
 Diabetes insipidus – polyuria, polydipsia, large volume dilute urine (rare in children!)
 Obstructive sleep apnea – snoring, dry mouth, fatigue, hyperactivity, irritability
 Labs: urinalysis, further studies based on suspected etiology
 Imaging: ultrasound/other imaging if daytime symptoms or Hx of recurrent UTI
 Dx: clinical presentation
 Tx:
o 1st line: Non-pharmacologic behavioral interventions
 Avoid sugary drinks/caffeine before bed, engage in regular daytime voiding/voiding just
before bed, minimize all fluid intake near bedtime, start a reward system for dry nights
 Enuresis alarm to require regular bladder filling/voiding to “train” the bladder (3-5mo of
therapy); best long-term outcomes
o 2 line: Demopressin (ADH analogue) +/- oxybutynin (anti-cholinergic) to decrease urine
nd

output and promote bladder retention of urine

 High rate of relapse with stopping medications & hyponatremia concerns
o 3 line: TCAs (imipramine is classic; concern for suicidality/cardiotoxicity)
rd

2233: Alport’s Syndrome

 Presentation: classic triad of hematuria/proteinuria, sensoneurial deafness, and familial kidney failure
o May feature vision abnormalities but this is less common (25%)
 Pathophysiology: mutation of a-5 chain of type IV collagen affecting basement membranes
 o Kidney (glomerular BM); Ear (cochlear BM); Eye (lens/retina BM)
o X-linked dominant: males (full presentation) and females (isolated hematuria)
 Biopsy: often indicated for nephritic/nephrotic syndrome in children over age 10yr
o Light: may be normal (early) or “basket weaving” if late stage
o Immuno: nothing detected
o Electron: “basket weaving” alternating thick and thin capillary loops with GBM splitting
 Other things that might look like Alport’s
o Thin basement membrane disease: AD mutation of a-3/a-4 chains of Type IV collagen; often
results with benign hematuria and a “thin” basement membrane (1/2 normal thickness
throughout)
o Anti-GBM disease: autoantibody to the “non-collagenous” domain of a-3 chain of Type IV
collagen; Biopsy shows linear IgG deposits on the GBM characteristically; essentially
Goodpasture syndrome but only of the kidney
o Benign recurrent hematuria: Renal biopsy shows totally normal architecture and problem likely
will resolve on it’s own.

3692/4005/4196: Urinary Tract Infection (UTI)

 Risk Factors: uncircumsized male <1yr, female any age (short urethra), renal anomaly (VUR, PUV, etc.),
recent sexual activity, poor vaginal hygiene
 Presentation:
o Older child/adult (cystitis): dysuria, frequency, urgency, suprapubic pain, foul-smelling urine
o Older child/adult (pyelo): fever, chills, flank pain, CVA tenderness, N/V +/- cystitis symptoms
o Infant: fever, fussiness, decreased urine output, dehydration
o Fever >39C (102.2 F) in any child <3yr should prompt workup for occult UTI
 Pathophysiology: ascending bacteria ‘climb’ up the urethra/urogenital tract causing infection
o Rarely hematogenous spread can occur via renal arteries (young children most common)
 Micro: E.coli >>> Staph. Saprophyticus > other bugs
 Labs: Serum BUN/Cr (estimate renal function); urine dipstick (qualitative urine assessment); urinalysis
(quantitative urine assessment); urine culture (test for/ID bacteria & susceptibilities)
o Mid-stream clean-catch is appropriate in children/adults not in diapers
o Straight Catheterization for urine sample is necessary in children in diapers, as the presence of
feces/skin flora in the diaper make for a high chance for sample contamination
o Urinanlysis may show (+)blood/RBCs/leukocyte esterase/nitrites/bacteria/WBCs
 Imaging:
o Indications for Renal/Bladder Ultrasound (checks urologic abnormalities  increased UTI risk)
 Any infant <24mo with 1st febrile UTI
 Child of any age with recurrent febrile UTI
 Child with UTI + Hx of renal/urologic disease, hypertension, or poor growth
 Child not responding to normal UTI treatments
 Dx: clinical + urinanalysis/urine culture
 Tx: antibiotics
o Prophylactic Abx may be considered in pts with recurrent febrile UTIs or high grade VUR
 Follow-up:
o Repeat bloodwork/urine culture are NOT indicated as a “test of cure”, but only if patient fails to
improve 2-3 days following treatment initiation
2226: Recurrent Cystitis & Constipation
 Presentation: constipation (straining, painful poops, passage of hard “pellet” stools, crampy abdominal
pain, <2 poops/wk) with recurrent UTIs
o Classically occurs with initiation of cow’s milk, toilet training, or start of school
o Anal fissures, hemorrhoids, encopresis, vomiting may also occur
 Pathophys: enlarged rectum from impacted stool compresses bladder leading to outflow obstruction
 Dx: clinical presentation
 Tx: increase dietary fiber, limit cows milk, oral laxative/suppository
o Resolution of constipation should resolve the recurrent UTIs and any complications

3688/3694: Vesicoureteral Reflux

 Presentation: Retrograde flow of urine into the ureter/renal pelvis
o Confers risk of recurrent UTIs, pyelonephritis, renal abscess, renal scarring, chronic renal
insufficiency progressing to renal failure
 Grading
o I: retrograde flow into ureter; no dilation
o II: retrograde flow into ureter/renal pelvis; no dilation
o III: mild-moderate ureteral/pelvic dilation; mild renal calyx blunting
o IV: dilation/mildly torturous path of ureter; obvious dilation of renal pelvis
o V: gross dilation of upper UG tract with marked tortuosity of renal pelvis
 Dx:
o Any child <2yr with first UTI should have a renal/bladder ultrasound to assess for abnormalities
that may allow for VUR
o Recurrent UTIs should warrant a voiding cystourethrogram (VCUG), the gold-standard for
diagnosing VUR
 Tx: anatomic anomalies may be surgically fixed or patients are closely followed +/- prophylactic Abx
 Follow-up:
o Renal scintigraphy (dimercaptosuccinic acid) is best for long-term following of scarring
o Monitoring for chronic renal insufficiency (HTN, anemia, etc.) is recommended

4548: Posterior Urethral Valves

 Presentation: poor urine stream, straining to void, urosepsis, failure to thrive, & renal failure
(progressive bladder distention  hydronephrosis)
o Oligohydraminos/Potter’s Sequence is a severe/feared presentation
 Pathophysiology: abnormally folds of distal prostatic urethra cause outflow obstruction  backup of
urine into the upper UG tract  damage to kidneys
o The most common UG tract pathology & cause of chronic renal failure in newborn boys
 Dx: presentation + VCUG/cystoscopy
o May be prenatally diagnosed on prenatal ultrasound (bladder distention / bilateral hydroureter
or hydronephrosis)
 Tx: surgical PUV ablation/urinary diversion
o While early Dx is possible, it’s a 50/50 shot for resolution or progression of disease regardless of
treatment/severity upon diagnosis!

3554/4279/7764: Henoch-Schönlein Purpura (“Anaphylactoid purpura”)

 Presentation: colicky abdominal pain/intussusception, lower-extremity (buttocks/legs, sometimes
arms) palpable purpura (nonblanching vasculitis), arthralgia (knee/ankles), & renal damage
 (microscopic or gross hematuria, non-nephrotic range proteinuria, RBC casts, or mild creatinine
elevations)
o Note that renal involvement may occur weeks after initial presentation!
o Often preceded by a viral infection (triggers production of IgA)
 Pathophysiology: IgA production and deposition into small-medium vessels causing vasculitis. The
inflammation causes damage/limits bloodflow resulting in pain/poor function/bruising
 Labs: normal CBC/CMP with abnormal urinanalysis (RBCs/casts/proteinuria)
 Biopsy (immuno): shows IgA deposition in the mesangium of the glomeruli
 Dx: clinical +/- renal biopsy
 Tx: hospitalization with supportive care (fluids/NSAIDs) + corticosteroids for severe cases

4853: Hypernatremia
 Presentation: lethargy, altered mental status, muscle cramps/weakness, decreased reflexes, seizure
 Pathophysiology:
o Hypovolemic hypernatremia: renal losses (diuresis) or external losses (sweating, diarrhea)
o Hypervolemic hypernatremia: excess Na+ intake or mineralocorticoid excess
 Labs: markedly elevated serum sodium
 Dx: presentation with high Na+
 Tx: gentle fluid resuscitation with isotonic crystaloids (0.9% saline or Ringer’s Lactate); as using
hypotonic solutions may correct the sodium too quickly, leading to cerebral edema/damage!

3940: Note that Hepatitis B is a major risk factor for development of membranous nephropathy. This process
is rare in children, but often occurs with concomitant HepB infection!

2234: If a child has a normal UA but urine dipstick returns proteinuria, the child should have two additional
urine dipsticks on two separate occasions to follow-up for serious pathology.
 If dipsticks are negative, transient proteinuria is diagnosed and you’re done!
 If dipsticks are still positive on either repeat test, child should be referred to a peds nephrologist for
further renal pathology workup (24hr urine, renal ultrasound, renal biopsy if necessary!)

Allergy/Immunology
4479: Vaccinations for pre-mature babies should be given based on chronologic age, not gestational age.
 Vaccines are safe in pre-mature babies as long as their immunocompetent (even live-attenuated!)
 The only restriction is HepB vaccine, which should be held until the patient is 2kg (4lbs 6oz)
 Vaccines by Class:
o Inactive (killed): Polio, Hep A
o Toxoid (inactive toxin): Tetanus, Diptheria
o Conjugated Subunit: HepB, pertussis, H.flu (Hib), Pneumococcal, Meningococcal, HPV, flu (IM)
o Live attenuated: MMR, rotavirus, varicella, flu (intranasal)

8951: Rotavirus Vaccine

 Rotavirus Presentation: gastroenteritis (fever, vomiting, watery diarrhea), dehydration can occur
o Highly contagious via fecal-oral or fomite transmission (most common cause of gastroenteritis)
 Vaccine: live attenuated vaccine given in two doses (2mo, 4mo); may be administered with other
vaccines, but not alongside other live-attenuated vaccines (concern for poor response handling
multiple viruses!)
o Well tolerated, but classically carries risk of intussusception (live-attenuated virus reproduces
within the gastric tissue causing intestinal MALT hypertrophy)
 o Contraindications: anaphylaxis to vaccine, Hx of intussusception/GI malformation (Meckel’s is
classic), SCID (cannot receive any live-attenuated vaccines), or moderate/severe illness

3236: If a parent makes the decision to not vaccinate their child their wishes should be respected & the
risks/benefits/consequences should be thoroughly explained/documented
 Its best to inquire about why, not undermine the mother’s authority & lose relationship
 “Herd Immunity” – helps keep kids who medically cannot receive vaccines healthy and safe. Also
explains why kids without vaccines can avoid illnesses that are vaccinated against. However, it only
works if kids are largely being vaccinated!
 School enrolment – if the child is not medically exempt from vaccination, some states retain the right
to refuse them entry into daycare/school.
 Vaccination refusal is not something to be reported to the health department
 Court-ordered vaccination may only be sought if there is an outbreak of a specific disease at the time.
Otherwise (due to herd immunity) there is a vanishingly small chance for disease acquirement.

3854: Two regular vaccines that can significantly reduce the risk of cancer are
 HBV: HepB significantly associated with hepatocellular carcinoma; vaccination minimizes infection risk
 HPV: Human Papilloma Virus is shown to cause endometrial cancer (as well as other mucous
membrane cancers!), thus vaccination against high-risk strains minimizes this risk

4258: Contraindications for DTaP/TDaP

 Diptheria/Tetanus component
o Contraindication: anaphylaxis
o Cautions: moderate/severe illness, Guillain-Barre syndrome or Arthus-type Rxn within 6wk of T-
D exposure
 Pertussis component
o Contraindication: anaphylaxis, progressive neurologic disorder present, or encephalopathy
within 1wk following the vaccine
o Cautions: moderate/severe illness, seizure within 3 days, >105F temp within 2 days,
hypertonia/hypo-responsiveness within 2 days, or inconsolable/persistent crying within 2 days

3196: Hyper-IgM Syndrome

 Presentation: severe, recurrent sinopulmonary infections (otitis, sinusitis, pneumonia) with
viruses/encapsulated organisms and opportunistic organisms (PCP pneumonia, Candida thrush, etc.)
o Poor growth/failure to thrive due to excessive energy needed to fight off disease
 Pathophysiology: X-linked genetic defect of CD-40 ligand
o CD-40L expressed on T-cells; when binding to CD-40 on B-cells, it induces class switching
o Results in failure of B-cell class switching away from the IgM default class
o Results in poor plasma cell maturation/production  poor response to infection/vaccines
 Labs: CBC w/diff, B & T-cell counts, serum IgG/IgA/IgM, HIV testing
o Low IgG/IgA with high IgM
 Dx: clinical presentation with characteristic Ig profile
 Tx: IVIg administration with Abx prophylaxis

12519: Common Variable Immunodeficiency (CVID)

 Presentation: less severe immunodeficiency presenting in late childhood/teenage years
o Recurrent respiratory (pneumonia, sinusitis, otitis) from encapsulated bugs (H.flu, S.pneumo) +
chronic lung dx (bronchiectasis, asthma)
 o Recurrent GI infections (Salmonella, Campylobacter) + GI disorders (chronic diarrhea, IBD)
o Commonly Giardia Lamblia infection at least once
o Autoimmune Dx (RA, thyroid disease, etc.) are common
o Failure to thrive is common
 Pathophysiology: isolated abnormal B-cell differentiation causes impaired humoral immunity due to
decreased Ig levels (IgG, IgA, and/or IgM)
o Failure of B-cell development = poor response to vaccination
 Labs: severely decreased IgG & decreased IgA, IgM, or both
 Dx: presentation + Ig deficiency
 Tx: avoiding infection + IVIg (bolster humoral immunity)

3197/4762: Severe Combined Immunodeficiency (SCID)

 Presentation: severe, recurrent sinopulmonary infections (otitis, sinusitis, pneumonia) with
viruses/encapsulated organisms and opportunistic organisms (PCP pneumonia, Candida thrush, etc.)
o Poor growth/failure to thrive due to excessive energy needed to fight off disease
o Chronic diarrhea & Absence of Lymphoid Tissue (non-palpable lymph nodes despite severe
infection, small/absent tonsils, small/absent thymus)
 Pathophysiology: gene defect resulting in failure of T-cell development, ultimately leading to failure of
B-cell development due to lack of T-cell stimulation of B-cells
o May be X-linked or autosomal dominant inheritance
o Adenosine deaminase deficiency (ADA) is a classic cause (severely affects DNA production,
thus quickly developing T-cells are largely affected)
 Labs: CBC w/diff, B/T-cell counts, serum IgG/IgA/IgM, HIV testing
o Low IgG/IgA/IgM, low T-cells (CD4+, CD8+, CD3+), low B-cells (CD19+)
 Dx: clinical presentation + labs
 Tx: early stem cell transplant
 Screening: detected in newborn screening via absence of T-cell DNA excision circles, which are
excreted by normally developing T-cells in the thymus, in dried blood

3198/4495: Chronic Granulomatous Disease (CGD)

 Presentation: recurrent severe cutaneous/pulmonary infections, supprative adentitis, and
osteomyelitis caused by Catalase(+) organisms
o Most commonly X-linked inheritance
 Pathophysiology: gene defect of NADPH oxidase resulting in weak neutrophil “oxygen burst”
o NADPH  O2- (superoxide)  H2O2 (hydrogen peroxide)  ClO (bleach) is the normal process
that occurs in the O2 burst
o Catalase is used by bacteria to neutralize hydrogen peroxide; most bacteria have superoxide
dismutase (neutralize superoxide), thus without the ClO production, it’s extremely hard to kill
catalase(+) organisms
 Labs: CBC w/diff, neutrophil function tests (below)
o Dihydrorhodamine-123 Test: compound reacts to superoxide causing flourscence that can be
visualized or picked up on flow-cytometry
o Nitroblue Tetrazolium Test: compound reacts to superoxide made by neutrophils and turns
blue if the neutrophil is functioning properly. A ‘negative’ test is one that turns blue!
 Micro:
o Bacteria: S.aureus, Serratia spp., Burkholderia spp., Norcardia spp, Listeria spp., Klebsiella spp.
o Fungi: Aspergillus spp., Candida spp.
 Dx: presentation + neutrophil function tests
  Tx: anti-microbial prophylaxis (Bactrim/Intraconzole) + lifelong INF-Gamma (boost intracellular killing)

2134/3195: X-linked (Brunton’s) Agammaglobulinemia

 Presentation: severe, recurrent sinopulmonary infections (otitis, sinusitis, pneumonia) with
viruses/encapsulated organisms and opportunistic organisms (PCP pneumonia, Candida thrush, etc.)
o Poor growth/failure to thrive due to excessive energy needed to fight off disease
o Occurs after age of 6 months
o Often small/absent lymphoid tissue present due to poor B-cell proliferations
 Pathophysiology: defective tyrosine kinase that prevents proper maturation of B-cells
o Occurs after 6mo, as this is when mom’s passive immunization IgG wanes
 Labs: CBC w/diff, Ig counts, B/T-cell counts (will show normal T-cells, low B-cells, and low Igs)
o Note that Total B-cells can be calculated with [Lymphocytes – CD4+CD8 T-cells]
 Dx: presentation with corresponding labs
 Tx: IVIg (immunoglobulin replacement therapy), prophylactic Abx if needed
o While immunizations are not contraindicated, they’re useless as the patient has no humoral
production of Ig to generate an immune response

2769: Hereditary Angioedema (HANE)

 Presentation: rapid onset edema of the hand/lips/face/genitals, GI tract (colicky abdominal pain), and
larynx (life-threatening airway compromise), often presenting in late childhood
o No urticaria present
o Classically flares with ACE-inhibitor initiation, trauma, infection, or dental procedure
o Note that acquired forms often present in people age >30yr
 Pathophysiology: C1 inhibitor deficiency/dysfunction, or destruction leading to unopposed activation
of C1 compliment resulting in huge buildup of Cb2/bradykinin (pro-inflammatory endpoints)
 Labs: compliment level assay (C1q normal if hereditary/low if acquired, C4 always low)
 Dx: presentation with corresponding compliment levels
 Tx: ???

4143: Leukocyte Adhesion Deficiency

 Presentation: recurrent skin (cellulitis, abscess, omphalitis) and mucosal (periodontal) infections
o Poor wound healing with absence of purulence/neutrophils at site of infection
o Delayed umbilical cord separation (age >3wk)
 Pathophysiology: defective integrins on leukocyte surface stopping normal adhesion needed for
extravasation, stopping migration of WBCs to areas of inflammation
o Inflammation still occurs but no early WBC neutrophils to direct inflammation
 Labs: CBC (marked neutrophilia/lymphocytosis); analysis of wound drainage
 Dx: presentation + labs
 Tx: ???

3602/3993: Selective IgA deficiency

 Presentation: often asymptomatic but classically recurrent sinopulmonary/GI infections due to
impaired immunologic IgA barrier on mucosal surfaces
o Importantly any blood transfusion will cause anaphylaxis in these patients, as they will mount
an immune response to IgA present in donor blood. Thus any blood products of a patient with
this disease must be washed for IgA and patients must wear information bracelets.
 o In Celiac’s Disease: Selective IgA deficiency may actually mask the IgA autoimmune bodies, thus
is suspicion is high, but IgA is negative  check total IgA for deficiency and check Anti-IgG
antibodies
 Dx: Low IgA, normal IgM/IgG, normal B-cells/T-cells +/- low IgG2/IgG4 selective deficiency
 Tx: supportive care with medical alert bracelet

4847: Wiskott-Aldrich Syndrome

 Presentation: eczema (dry/scaly rashing), microthrombocytopenia (low platelets with small platelets),
petechiae/purpura/severe bleeding (intracranial, GI), and recurrent infections (B/T-cell dysfunction)
 Pathophysiology: X-linked recessive mutation on WAS protein gene; causes impaired cytoskeleton
remodeling in hematopeotic cells, screwing up their response to the body’s environment
o Dysfunction in leukocytes  B/T-cell poor migration & immune synapse function
o Dysfunction in platelets  tiny/few platelets cripples primary hemostasis
 Labs: CBC (thrombocytopenia)
 Smear: thrombocytopenia with small platelets
 Dx: presentation + peripheral blood smear
 Tx: hematopoietic stem cell transplant

3545: DiGeorge Syndrome

 Presentation: developmental delay, dysmorphic facies (cleft palate, short palpebral fissures, small chin,
ear malformation), parathyroid aplasia/hypoplasia (hypocalcemia), thymic aplasia (T-cell dysfunction &
lymphopenia), congenital heart disease (truncus arteriosus >> VSD, ToF, aortic arch interruption)
o Complications: tetany/seizures/arrhythmias (severe hypocalcemia), bacterial/viral/fungal
infections (T-cell/B-cell dysfunction)
 Pathophysiology: sporadic or AD 22q11.2 microdeletion causing abnormal development of the the
pharyngeal pouches  abnormal facial, neck, and mediastinal development
 Labs: serum calcium (hypocalcemia), CBC (low T-cells/lymphopenia)
 Imaging: echocardiography (rule out cardiac defects)
 Dx: FISH study showing microdeletion
 Tx: aggressive Ca2+ repletion; fixing any abnormalities; vaccination against disease
 Lookalikes: Velocardiofacial syndrome (22q11.1 microdeletion; “Incomplete DiGeorge syndrome) –
developmental delay/hypotonia, dysmorphic facies (cleft palate, wide/prominent nose with square
nasal root, short chin, fish-shaped mouth), & congenital heart disease (VSD, right-sided aortic arch); no
parathyroid or thymus problems

Other Immunodeficiency syndromes mentioned in this section

 IgG Subclass Deficiency – recurrent sinopulmonary infections; low-normal IgG with normal IgM/IgA
 Job’s Syndrome (hyper IgE syndrome) – abnormal Faces, cold staph Abscesses (no inflammation),
retained 1o Teeth, high IgE, Dermatologic problems (eczema)  FATED mnemonic
 Chediak-Higashi syndrome – failure of lysosomal trafficking enzymes (giant neutrophil blue-grey
granules & neutropenia) causing recurrent infections, ocular albinism (bright blue eyes/photophobia),
dermatologic albinism, hair with silver streaks
 Transient Hypoglobulinemia of Infancy – IgG levels will dip in newborns around 6mo (mom’s passive
immunization wears off); IgA/IgM/B-cells/T-cells are all normal; typically resolves by 12mo
 General Principles
2433/4199/4822/4823/4874/7741: Normal Developmental Milestones
Age Gross Motor Fine Motor Language Social/Cognitive Red Flags
2mo Lifts head/chest Hands unfisted Alerts to voice & Social smile, Fails to alert; irritability;
when prone 50%; tracks past sounds, coos recognizes no social smile; early
midline parents rolling (hypotonic)
4mo Sits with support; Hands mostly Laughs; turns to Enjoys looking Poor head control, no
beings rolling open; reaches voice around laugh, no visual threat
midline
6mo Begins to sit with Transfers objects Responds to Stranger anxiety No rolling; head lag
propped hands hand-to-hand; names; babbles
(unsupported at raking grasp mixing vowels &
7mo) consonants
9mo Pulls to stand; 3-finger pincer Says “mama” Waves “bye” & W-sitting (hypotonia),
cruises grasp; hold “dada” plays Pat-a-Cake Scissoring (hypertonia),
bottle/cup primitive reflexes
12mo Stands; walks first 2-finger pincer 1st words (not Separation Unable to localize
independent grasp ‘mama’ or ‘dada’) anxiety; follows 1- sounds; no protective
steps; throws ball step commands & reflexes
gestures
18mo Runs; kicks a ball Tower (2-4 10-25 words; Understands Persistent Toe walking
cubes); removes phrases emerge “mine”; plays (hypertonia)
clothing (“Thank you” pretend alone
“Stop it”); IDs 1
body part
2yr Scales stairs with Tower (6 cubes); 50+ words; 2 Follow 2-step Poor transitions, lack of
both feet on copies a line word telegraphic commands; social interactions
steps; jumps sentences parallel play;
toilet training
starts
3yr Scales stairs with Copies a circle; 3 word sentences; Knows Echolalia (autism);
alternative feet; uses utensils 75% intelligible age/gender, extended family fails to
ride tricycle speech imaginative play understand speech
4yr Balance/hops on Copies a square Identifies colors; Cooperative play
1 foot 100% intelligible
speech
5yr Skins/walks Copies a triangle; 5 word sentences; Makes friends; Strangers fail to
backwards prints letters; ties counts to 10 completes toilet understand speech
shoelaces; training
dresses/bathes
independently

3418: Intraosseous IV access (IO) at the proximal tibia is a common site for venous access when peripheral
lines are difficult to start in children (adults not so much!)
 Easier to start (less risk) than a central line
 Away from the sternum/chest if cardiac resuscitation is needed simultaneously
  Contraindications: active infection in the area, fracture, previous unsuccessful IO attempts, severe
bone fragility (osteogenesis imperfecta, etc.)

7726: Evaluating Neonatal Hydration/Weight Loss

 Presentation: decreased wet diapers, decreased tearing, sunken fontanelles, dry mucous membranes,
decreased skin turgor, delayed capillary refill
o [# of wet diapers/day = # of days old] in the first week of life
o ‘Pink-stain’/’brick-dust’ poop (uric acid crystals) is a sign of mild dehydration in the 1st week
 Normally, a child should lose up to 7% of their birthweight in the first 5 days of life (excretion of excess
fluids from in-utero & during labor)
o Wt loss <7% - continue breastfeeding as normal & check wt in 1wk (should be gaining)
o Wt loss >7% - assess for sucking failure/lactation failure, daily weightings, & supplement with
formula

GI
4925: Pediatric Dehydration Assessment & Resuscitation
 Children are more susceptible to dehydration due to 1high-frequency gastroenteritis, 2high surface-
area to volume ratio (increased insensible losses), and 3possible inability to access fluids or
communicate they’re thirsty to their provider
 First Step: determine severity
o Ideal: regular body weighings (1kg lost = 1L fluid lost); this is near impossible as it’s hard to
pinpoint a child’s “well weight” before the start of the illness due to rapid growth
o Realistic: clinical history and physical exam
 Mild (3-5% loss): Hx of decreased intake/fluid loss but minimal symptoms
 Moderate (6-9% loss): decreased skin turgor, dry mucus membranes, tachycardia,
irritability, delayed capillary refill (2-3sec), & decreased urine output
 Severe (10-15% loss): cool/clammy skin, dry mucous membranes, cracked lips, sunken
eyes/fontanelles, tachycardia, lethargy, delayed capillary refill (>3sec), and minimal
urine output
 Second Step: rehydration therapy
o Mild-Moderate: oral rehydration therapy (if tolerated)
 The glucose-sodium filled solutions for ORT work on the principle that coupled co-
transport for glucose-Na are maintained even with secretory diarrhea, while other Na
absorption mechanisms are impaired
 It’s important to use drinks specifically targeted at oral rehydration, as their electrolyte
profiles are specifically targeted to take advantage of this. Gatorade does NOT meet
these qualifications & may act as osmotic diuretics due to high sugar content.
o Moderate-Severe: IV fluids with isotonic crystalloids  add dextrose after initial resuscitation
 Emergency Phase: 20mL/kg IV bolus with appropriate solution
 Repletion Phase: electrolyte repletion over 24 or 48hr if hypernatremic (100-50-20 rule)
 +100mL/kg/day – first 10kg body weight
 +50mL/kg/day – second 10kg body weight
 +20mL/kg/day – each kg above 20kg previously accounted for
 Consider adding more if increased insensible losses (respiratory distress or fever)
 Rate is determined by the 4-2-1 Rule
o +4mL/hr – first 10kg body weight
o +2mL/hr – second 10kg body weight
o +1mL/hr – each kg above 20kg previously accounted for
  Ex) 24kg child would get 1000mL + 500mL + 80mL = 1580mL/day @ 64mL/hr
 Hypotonic should NEVER be used as concerns over electrolyte changes can result in
cerebral edema/permanent brain damage/locked-in syndrome

8955: Pediatric Constipation

 Presentation: <2 poops/wk, crampy abdominal pain, straining to poop, passage of hard stools
o Often onset with some change in life: staring cows milk, starting school, toilet training
o If unresolved: anal fissures/hemorrhoids (hard stool damaging anal mucosae), encopresis
(paradoxical diarrhea via relaxation of distended bowel), enuresis/UTI (big bowel compressing
ureters), vomiting (stool backup) can all occur
 Pathophysiology: Although many reasons, classically the child starts something new and feels
uncomfortable stooling. Holding the stool results in impaction/constipation.
o Cow’s milk (as opposed to breast) may also result in lower levels of fluid in gut = hard poops!
o Problem compounds itself, as stooling is painful/uncomfortable and child’s instinct to hold
stools is reinforced
 Imaging: not routinely needed, but in severe cases X-ray Chest/Abdomen can rule out air-fluid levels &
rupture of bowel (air under diaphragm)
 Dx: clinical presentation
 Tx: increase fiber, decrease cow’s milk (<24oz), laxatives (polyethylene glycol or mineral oil) 
suppository/enema to open bowel up (if other treatments are not working)
o Note that while juice can work as an osmotic laxative, it is not encouraged as excessive juice
consumption may be needed, promoting increased dental problems/obesity
o Child should sit on the toilet following every meal to encourage regular stooling
o Treatment should be continued until stooling is regular and stools are consistently soft

2475/4817/4818: Pediatric Jaundice

 Physiologic Jaundice of the Newborn
o Presentation: universal jaundice occurring in the first 2-4 days of life
o Pathophysiology:
 High hemoglobin turnover (high hematocrit with shorter lifespan; HbF only designed to
last 90 days, as opposed to the 180 days of HbA)
 Immature liver uridine-diphosphgluconate-gluconosyltransferase (UDG-Transferase)
activity until 2wk of age (slower bili conjugation; often more pronounced in Asians)
 Sterile gut, thus lack of bacterial enzymes to convert bilirubin  urobilinogen increasing
enterohepatic circulation
 Note that only unconjugated (indirect) bilirubin (not water soluble) can cross the BBB as
it’s high lipid solubility can slip through the fatty neuron/glial cell membranes;
conjugated bilirubin has been made too polar to cross the fatty BBB
 Note that breastfeeding will likely increase peak bilirubin levels
o Labs: unconjugated hyperbilirubinemia
o Dx: presentation with labs
o Tx: spontaneous resolution by age 1-2wk
 Close monitoring for worsening due to concerns for kernicterus & frequent feeding to
speed colonization of the gut
 Sunlight exposure can relieve jaundice but not recommended due to concern for skin
damage in the neonate
 Intervention may be needed if rapidly rising or if total bilirubin >20mg/dL
(phototherapy) or >25mg/dL (exchange transfusion)
  Breastfeeding Failure Jaundice
o Presentation: jaundice within first week of life, dehydration, inadequate stooling (dark/sticky
meconium should transition to yellow-green/seedy stools within first week)
o Pathophysiology: inadequate breastfeeding leads to dehydration and slowed passage of
bilirubin-laden meconium in the gut. Bili in stagnant stool gets more time to be re-absorbed,
leading to heightened enterohepatic circulation  unconjugated bilirubinemia
 Mom: poor milk supply, cracked/clogged nipples, engorgement, infrequent feeds
 Child: poor latching, ineffective sucking, falling asleep with feeds
o Labs: unconjugated hyperbilirubinemia
o Dx: presentation
o Tx: identification of lactation failure with specific plan to address it (some common ones below)
 Increase Feed Frequency: neonates are fed 8-12 times/day (every 2-3hr)
 Increase Feed Time: feeds should last approximately 10-20min/per breast during the
first month of life
 Maintain Mom Hydration: if mom is dried out, milk may be produced in lower quantity
 Formula Supplementation: if above does not work, supplementation may be needed
o Follow-up: follow-up after 2 days with H&P, weight, and bilirubin levels to note resolution
 If not resolving: phototherapy (>20mg/dL bili) or exchange transfusion (>25 bili)
 Even if breast milk is low, do not discontinue breastfeeding as the benefits will be lost.
Simply continue and supplement as needed.
 Breast Milk Jaundice
o Presentation: jaundice after the first week of life, adequate hydration/stooling
o Pathophysiology: high levels of B-glucuronidase/lipase in mother’s milk causing increased
enterohepatic circulation; although not well understood
o Labs: unconjugated hyperbilirubinemia
o Dx: presentation
o Tx: none needed; will resolve between weeks 2-10 of life

2923/2924/2983: Genetic Diseases of Liver Metabolism

 Dubin-Johnson syndrome – conjugated bilirubinemia; jaundice with body stressors (illness, pregnancy,
OCP use) but otherwise no/minor symptoms (fatigue, abd. pain, weakness) and no hemolysis
o More common in Sephardic Jews
o Clinically normal aside from reactionary jaundice and black liver (epinephrine metabolites)
o Labs: Bilirubin (20-25 mg/dL), normal LFTs, normal coproporphyrin (predominantly Copro I)
 Rotor syndrome – Dubin-Johnson syndrome without the black liver
 Crigler-Najjar syndrome – autosomal recessive unconjugated bilirubinemia (passes through BBB)
o Type 1: significant mental retardation/death; Phototherapy/plasmapheresis can help
conjugate the bilirubin to buy time for curative liver transplant
o Type 2: fairly benign unconjugated bilirubinemia with jaundice; often asymptomatic, but
symptoms (if occuring) can be treated with phenobarbital or clofibrate
 Gilbert syndrome – mild unconjugated bilirubinemia triggered by bodily stressors; very similar to C-N
syndrome II, difference is in the enzyme defect

2478/2479/4868: Breastmilk & Breastfeeding

 Breastmilk is considered the ideal human nutrition source for full-term infants & should be given
exclusively for the first 6mo of life as long as child is maintaining normal growth status
o Pureed solid foods are introduced at 6mo with continuation of breastmilk until age 1yr
 Start with pureed fruits/vegetables  pureed proteins/meats
  Fruit juice can be started at 6mo, but no more than 4-6oz/day (risk of dental caries!)
 Introduction of allergenic foods does NOT decrease allergy development
o Cow’s milk introduced at 1yr of age
 Benefits of Breastmilk for baby
o Protein content highest right after birth; consists of 70% whey and 30% casein proteins (Whey
protein = easier to digest & promotes gastric emptying)
o Aids in digestion (lysozymes) & promotes absorption of nutrients
o Aids in passive immunization (contains maternal IgA, lactoferrin) with decreased rates of otitis
media, gastroenteritis, URI, UTI, necrotizing enterocolitis, Type I diabetes, childhood cancer,
and childhood obesity
o Associated with less reflux/colic than traditional formulas
 Drawbacks of Breastmilk baby
o Less phosphorus/calcium (but better absorbed, thus it’s a bit of a wash)
o Vitamin D deficient – Vit. D supplementation (400IU/day in the first month of life is mandated
with exclusive breast feeding
o Iron deficiency – prematuity/maternal iron deficiency can largely predispose child to iron
deficiency. Supplementation should occur from [birth – 1yr] if risk factors present
 Fe deficiency is the most common nutritional deficiency of infancy!
 Switching to cow’s milk before 1yr of age increases risk of this
o B12 deficiency – if mom is vegan; recommend supplementation if this is the case
 Benefits of Breastfeeding for mom
o Rapid uterine involution/decreased post-partum bleeding
o Faster weight loss to return to pre-pregnancy weight
o Moderate contraception/less periods/increased bonding with child
o Reduced risk of breast/ovarian cancer (NOT ENDOMETRIAL CANCER!!!)
 Contraindications to Breastfeeding
o Baby - galactosemia
o Mom – active TB (unless post-2wk of therapy), maternal HIV (if formula available), herpes of
the breast, active peri-partum varicella infection, active herpes of the breast/nipple, some
medications/chemotherapy/active drug abuse or alcohol consumption

3825: Beckwith-Wiedemann Syndrome

 Presentation: Abdominal wall defects (omphalocele, gastroschisis, umbilical hernia), macrosomia,
hemi-hypertrophy, macroglossia, and visceromegaly
o Increased risk of Wilms Tumor and hepatoblastoma development
o Hypoglycemia is common and should be monitored closely
 Pathophysiology: mutation on chr 11p15 (WT1; part encodes insulin-like growth factor 2)
 Imaging (FIRST STEP!): prompt abdominal ultrasound to rule out concomitant abdominal tumor
 Dx: clinical presentation +/- specific genetic defect
o Note that congenital hypothyroidism may present with macroglossia/umbilical hernia and
should not be confused for this syndrome!
 Follow-up: screening for abdominal tumors based on age
o Age 0-4: AFP/Abdominal ultrasound every 3 months
o Age 4-8: abdominal ultrasound every 3 months
o Age 8-20: renal ultrasound every 3 months

2452/DiV: Duodenal Atresia

Presentation
  Bilious Vomiting: yellow/green stained vomit proves that the GI tract is patient past the Ampulla of
Vater (rules out pyloric stenosis). Typically, this type of vomiting indicates a surgical problem
o Note that 20% of pts with duodenal atresia will have it before the Ampulla of Vater; this will
lead to non-bileous vomiting. Thus, just because it’s non-bileous, doesn’t mean it’s not
duodenal atresia.
 Polyhydraminos: too much amniotic fluid; can be an indicator impaired swallowing (which includes GI
obstruction) or urine overproduction (maternal diabetes, twin pregnancy)
 Passage of meconium: yes, even with bowel obstruction, the infant may still pass meconium. Lanugo,
amniotic fluid, bile will not be able to form it, but mucus is shed throughout the GI tract (even with an
obstruction) thus can form meconium
 “Double Bubble” sign on CXR: two pouches of gas (stomach and proximal duodenum) seen due to gas
filling the stomach, a stricture point at the pyloric sphincter, then gas filling duodenum proximal to the
atresia point.
Pathophysiology
 Bowel obstruction may in intrinsic (duodenal atresia) or extrinsic (annular pancreas, adhesive Ladd’s
bands); but gas throughout the bowel with signs of obstruction points to partial obstruction vs total
 Duodenal development involves lumen obliteration around week 8, with subsequent re-canalization
afterward. Failure of recanalization results in obstruction
 Jejunal/Ileal development does not undergo this obliteration/recanalization process and obstruction is
the result of poor bloodflow causing segmental ischemia  segmental obstruction
 There are several associated abnormalities with duodenal atresia with the top 4 being Down’s
syndrome, Annular pancreas, Malrotation of the gut, and congenital heart disease.
Workup
 First Step: IV access, fluid resuscitation, NGT placement for stomach decompression
 If unstable: suspect malrotation/volvulus  prophylactic ABX + exploratory laparotomy
 If stable: AP/lateral CXR
o No dilated loops of bowel (proximal obstruction) + Double bubble + no distal bowel gas =
duodenal atresia
o No dilated loops of bowel (proximal obstruction) + Double bubble + distal bowel gas  Upper
GI contrast study
o Dilated loops of bowel (distal obstruction)  contrast enema to assess Lower GI tract
Management
o Workup as indicated above
o Surgery should be delayed for thorough workup if patient is stable; but clinical instability warrants
emergent trip to the OR for exploratory laparotomy for repair of malformed gut
Areas to Get in Trouble
o Inadequate resuscitation before emergent surgery  hypovolemia can result in hypotension that’s
exacerbated by anesthesia, which may lead to shock!
o Not working up cardiac defects  nearly 20% of babies with duodenal atresia will have cardiac defects
due to comorbidity with Down’s Syndrome! These may take precedence over the GI problem and
should be addressed first.
o Damage to annular pancreas  this is another common co-malformation with duodenal atresia. In
surgery care must be taken to not damage the pancreas as it may lead to pancreatic enzyme leak!

4890: Ileum/Jejunum Atresia

 Presentation: bilious emesis, abdominal distention, other signs of intestinal obstruction
 Pathophysiology: in-utero vascular accident often due to maternal medication use or cocaine/tobacco
use. The lack of perfusion causes bowel necrosis/resorption, sealing off that section of bowel
  Imaging: upright abdominal X-ray showing triple bubble sign (stomach, duodenum, jejunum/ileum
that isn’t resorbed) and gasless colon (gas can’t pass past resorbed segment)
 Dx: clinical presentation + imaging
 Tx: adequate fluid resuscitation & stabilization  surgical resection/re-anastamsosis of bowel

2467/4183: Hirschprung’s Disease (Congenital Aganglionic Megacolon)

 Presentation: uncomplicated birth, delayed passage of meconium (>48hr), bilious emesis, abdominal
distention/no stool in rectal vault, increased rectal tone, patent anus
o Increased rectal tone with “squirt sign” (forceful expulsion of gas/feces) with rectal exam
o Regular consistency of meconium
o Highly associated with Down’s Syndrome (trisomy 21)
 Pathophysiology: failure of neural crest cell migration to the gut to form segments of the enteric
nervous system. Thus, GI tract without ENS cannot relax causing obstruction.
 Imaging: upright abdominal X-ray showing air-fluid levels and possibly obstruction
o Contrast enema if stable showing obstruction (level of recto-sigmoid colon) and proximal
dilation of colon with ‘transition zone’ (“bird’s beak sign”)
 Dx: presentation + rectal suction biopsy (absence of ganglion cells)
 Tx: surgical resection of affected colon with re-anastamosis

2466/2467/4183: Meconium Ileus

 Presentation: uncomplicated birth, delayed passage of meconium (>48hr), bilious emesis, abdominal
distention/no stool in rectal vault, patent anus
o Inspissated meconium (thick/difficult to pass) may be seen/noted
o Bowel perforation may be noted as will require immediate surgery!
o Highly associated with Cystic Fibrosis (∆F508 or other!) & often the first sign (virtually all
children with meconium ileus have CF, but only 20% of pts with CF have meconium ileus)
 Pathophysiology: abnormal ion Cl/Na transport channels results in poor water secretion into many
hollow viscera (including the gut) leading to very thickened meconium that isn’t passed well.
o Thick meconium causes clogging  obstruction
 Imaging: upright abdominal X-ray showing micro-colon (diffusely small colon) & air-fluid levels
(sometimes called the “soap-bubble appearance”)
o If stable: Contrast enema if stable (obstruction at the level of the ileum)
o If unstable/air under diaphragm: no further imaging; proceed to ex-lap
 Dx: presentation + imaging
 Tx: immediate water-soluble contrast enema (Gastrografin is hyperosmolar & can suck fluid into the
gut to break up meconium to relieve obstruction) & treatment of underlying disease
o Emergent ex-lap if failure of Gastrografin/unstable/evidence of bowel perforation
o Chloride sweat test needed to screen for CF after addressing acute GI event

2463/4851/12517: Intussusception
 Presentation: sudden severe episodic/crampy abdominal pain with interspersed normal
feeding/behavior, palpable ‘sausage-like’ abdominal mass, “currant jelly stools”, Dance’s sign (empty
RLQ), “peeking bowel” (bowel intussusception all the way to anus, where it’s peeking out)
o Classically can occur after URI (most common cause of lead point!) or rotavirus infection (and
with rotavirus vaccination in older versions of the vaccine!)
 Pathophysiology: ‘lead point’ within the bowl causes telescoping of bowel with normal gut motility,
causing obstruction/pain/ischemia/death if severe.
 o Possible lead points: none identified (75%) > Peyer patch hypertrophy following viral illness
(most commonly in ileum) > Meckel’s diverticulum (most common cause of re-current
intussusception) > Henoch-Scholein purpura (small bowel hematoma)/Celiac’s disease
(lymphoid hyperplasia)/intestinal tumor (Burkitt’s lymphoma most common)/intestinal polyp
(check for FAP or others)/Cystic fibrosis (inspissated stool)
 Imaging: abdominal ultrasound (“target sign”)
 Dx: presentation + imaging
 Tx: air/water-soluble contrast enema (acute resolution), surgical removal of lead point (if present or
enema failure), treatment of underlying disease process (if present)
o If ongoing bleeding after resolution  Technitium-99m scan for Meckel’s Diverticulum

4838: Meckel’s Diverticulum

 Presentation: asymptomatic (most common presentation), painless hematochezia (most common
sign), intussusception (recurrent), intestinal obstruction, or volvulus can all be part of presentation
o Bleeding may be substantial leading to anemia/hemorrhagic shock
o Rule of 2’s: 2% prevalence, x2 incidence in males, presents around 2yr, 2ft from ileocecal valve
 Pathophysiology: incomplete obliteration of vitilline duct; contains heterotopic gastric tissue which
produces HCl resulting in erosion of gastric mucosa  bleeding/stricture/obstruction
 Dx: Technetium-99m pertechnitate scan (“Meckel’s scan”) showing gastric mucosa both in stomach
and in diverticulum
o Superior mesenteric angiography & colonoscopy may reveal diverticula but much less preferred
due to invasive nature of both tests
 Tx: often bleeding is intermittent, but definitive treatment is surgical resection of diverticulum

2456/2474: Necrotizing Enterocolitis

 Risk Factors: prematurity (<32wk), very low birth weight (<1.5kg), reduced mesenteric perfusion
(dehydration, hypotension, congenital heart disease), enteral feeding (formula > breastmilk)
 Presentation: vital sign instability/lethargy/hypothermia, vomiting, bloody stools, abdominal
distention/tenderness, residual milk in stomach
o Complications: septic shock, bowel rupture, intestinal stricture, short bowel syndrome, death
o Most common cause of death in Pediatric ICU
o Most commonly occurs at terminal ileum/colon
 Pathophysiology: premature bowel has a difficult time totally digesting/absorbing nutrients 
bacterial proliferation/fermentation  mucosal inflammation  translocation of bacteria/fermenting
gasses into the bowel wall
 Labs: CBC (leukocytosis), CMP, ABG (metabolic acidosis)
 Imaging: upright abdominal X-ray showing pneumatosis intestinalis (“train track”/”double line” bowel
wall; air in intestinal wall) or air in portal veins (bacterial transit into portal venous system)
 Dx: clinical presentation + imaging
 Tx: immediate broad-spectrum Abx, ICU admission with close supportive care

2464: Milk/Soy Protein Colitis

 Presentation: regurgitation/vomiting with feeding, painless bloody stools, eczema at 2-8wk of age
o Family Hx of allergy/asthma/eczema may be a clue
 Pathophysiology: non IgE mediated allergy to proteins in milk causing colonic inflammation
 Dx: painless bleeding/symptoms ceases with dietary modification
o Should improve within 3 days, but may take up to 2wk for complete resolution
 Tx: avoidance of all dairy and soy until age 1yr (often they can tolerate at this age)
 o Mom can continue breastfeeding if she eliminates dairy/soy from her diet
o Hydrolyzed formula should be used in formula fed infants

3872: Choanal Atresia

 Presentation: depends on severity of obstruction but overall well-appearing except for below
o Unilateral: often undiagnosed until first URI where lack of patency is realized
o Bilateral: cyanosis/tachypnea at rest; worsening with feeding & resolves with crying
o May present as part of CHARGE syndrome (Coloboma, Heart defects, Atresia of Choanae,
Retardation, Genito-urinary malformation, Ear abnormalities/deafness w/ cup-shaped ears)
o A classic finding is inability to pass NG tube through one or both of the nasal passages or a
failure of condensation on cold metal when placed under the nares.
o Note that infants are obligate nose-breathers until 4mo (unless crying). Often these children
will appear dusky/cyanotic/in respiratory distress unless crying
 Pathophysiology: failure of posterior nasal passage canalization with either bony (90%) or
membranous (10%) obstruction
o Cyanosis with feeds occurs from child not being able to suck/swallow & breathe simultaneously
 Imaging: CT scan (choanal narrowing at level of pterygoids, air-fluid levels at obstruction site)
 Dx: clinical presentation + imaging
 Tx: first step = oropharyngeal intubation/airway with orogastic tube placement for feeding
o Resolution achieved with endoscopic or surgical repair of obstruction

4856: Crying in the Newborn

 Normal crying: intermittent, resolves with comforting, duration <2hr/day
 Excessive crying: >3hr/day for >3days/wk for >3wk in an otherwise healthy infant
o Typically occurs around the same time of day (often in the evening)
o Colic – baby is just excessively crying
o GERD – arching of back during feeding (Sandifer syn.), frequent spit-ups/vomiting, poor wt gain
o Corneal abrasion – Hx of playing in sand; fluorescein dye instillation to show damage
o Hair tourniquet – hair wrapped around extremity of digit
o Milk-protein allergy – biliary symptoms and painless bloody stools
 Tx: H&P for possible etiology; if colic, review infant comforting techniques with parents & reassure that
baby is healthy, but colicky
o Comfort baby with: infant swing, swaddling, quiet dark room (minimal stimuli), holding/rocking
o Assess feeding habits to check for overfeeding/underfeeding/poor technique

2773/3602: Celiac’s Disease (sprue)

 Presentation: long-standing bulky/foul/floating diarrhea, loss of muscle mass/fat, fatigue, and
malabsorbtion (may cause specific symptoms based on what isn’t being absorbed properly)
o Dermatitis Herpeteformis – itchy, small vesicular rash appearing on knees, elbows, forearms,
and buttocks
o Iron deficiency anemia – due to poor intestinal absorption
o Short stature/weight loss – may specifically occur in children/infants
o Other autoimmune diseases: these diseases tend to run in packs, and if you have one you’re
more likely to have another!
 Pathophysiology: Autoimmune disease causing small bowel destruction in response to gluten ingestion
o Anti-gliadin/Anti-tissue transglutaminase/Anti-endomysial IgA or IgG antibodies
o Gluten found in wheat, rye, barley, and oats (if harvested in fields with wheat present)
  Dx: IgA serologic testing, select antibody testing, or intestinal biopsy (villous blunting, chronic
inflammatory cells)
o Selective IgA deficiency may actually mask the IgA-type antibodies, this is suspicion is high, but
IgA is negative  check total IgA for deficiency and check for IgG-type antibodies
o Confirmed with resolution of symptoms with gluten free diet
 Tx: gluten free diet

2198: D-xylose test for Celiac’s Disease

 Remember! Celiac’s disease is an autoimmune disease (anti-gliadin antibodies) causing atrophy of the
small-intestinal brush border with gluten ingestion causing chronic diarrhea, steatorrhea, and weight
loss due to malabsorption
 Dx: D-xylose test
o D-xylose is a sugar that can be absorbed in the small intestine without digestion and will easily
be filtered out by the kidney into the urine
o Pt drinks 25g of D-xylose and subsequently has blood/urine sampled to check for levels of D-
xylose in each
 Normal or malabsorption from enzyme deficiency = normal D-xylose levels
 Celiac’s disease = low D-xylose due to damaged intestinal wall

3581: Tropical Sprue

 Essentially Celiac’s disease presentation but sub-acute onset after a trip for >1 month to a tropical
endemic area (Puerto Rico, Bahamas, etc.)
 Presentation: malabsorbtion (fatty stools, borborygmi, hyperactive bowel sounds, glossitis, cheilosis,
pallor, edema, diarrhea, gas, cramps, fatigue, progressive weight loss)
o Classically this causes B12/folate malabsorption  megaloblastic anemia
 Dx: Hx and small intestinal biopsy (villous blunting, lymphocytes, eosinophils, plasma cells)
 Tx: leave the tropical area, should resolve with symptomatic treatment

2453: Cyclic Vomiting Syndrome

 Presentation: recurrent, predictable pattern of acute clusters of vomiting with spontaneous resolution
o More common in pt with migraine headaches or family Hx of migraine headaches
o May result in dehydration, anemia, and social/school impairment
 Pathophysiology: thought to be a sort of “ENS migraine” causing abnormal firing of enteric ganglia
 Dx: criteria as are follows
o >3 episodes within 6mo period, lasts 1-10 days, occurs >4x/hr at peak intensity
o easily recognized by family
o no symptoms in between episodes & no underlying etiology identified
 Tx: hydration, anti-emetics (ondasetron), and reassurance (66% of pt have gradual resolution in 5-10yr)
o Anti-migraine therapy (sumatriptan) if history of migraines has proven beneficial

2945: Biliary (Choledochal) Cysts

 Presentation: abdominal pain, jaundice, palpable mass; often presents <10yr; presentation may have
additional signs/symptoms based on age:
o Infants – may present with acholic stools; must rule out biliary atresia
o Older Kids – may present with pancreatitis
o Adults – vague epigastric pain, RUQ pain, cholangitis/fever
o May transform into cholangiocarcinoma if left untreated
  Pathophysiology: congenital dilitation of the biliary tree. Many types, but Type I is the most common
(single dilatated extrahepatic cyst).
 Labs: conjugated hyperbilirubinemia +/- elevated LFTs
 Imaging: abdominal ultrasound or ERCP visualization of the cyst
 Dx: presentation + labs + imaging
 Tx: surgical resection (relieve obstruction & prevent malignant transformation)

3970: Biliary Atresia

 Presentation: normal birth  jaundice, acholic stools (light-colored), dark urine  hepatitis,
hepatomegaly, hepatic fibrosis/failure
o Symptoms develop within the first two months of life
 Pathophysiology: progressive obliteration of the extrahepatic ducts/gallbladder
 Labs: direct (conjugated) hyperbilirubinemia +/- elevated LFTs
 Imaging: abdominal ultrasound (first step; abnormal/absent gallbladder)
o Hepatic Scintigraphy – shows failure of radiotracer dye movement into small bowel
o Surgical cholangiogram – gold standard; often obtained in the OR when planning for surgical
shunting to set up eventual liver transplant
 Dx: presentation + imaging
 Tx: Kasai procedure (hepatoportoenterostomy; buys time/allows for child development to limit further
surgical morbidity/mortality)  liver transplantation

2896/3194: Reye Syndrome

 Presentation: rapid onset hepatic dysfunction, encephalopathy, cerebral edema, & increased ICP
causing abnormal behavior & vomiting  lethargy  seizure/death
o Classically caregiver will give history of viral illness (flu/chicken pox/etc.) treated for fever
o Elevated ICP is the most common cause of death (brainstem herniation)
o Note that aspirin is always contraindicated in children unless treating Kawasaki’s disease or
childhood rheumatologic diseases (e.g. juvenile idiopathic arthritis)
 Pathophysiology: administration of aspirin (or other salicylates) in children during viral infection can
result in hepatic mitochondrial dysfunction  fulminant hepatitis  hyperammonemia causing
cerebral toxicity/swelling
 Labs: LFTs (elevated AST/ALT), CMP (normal bilirubin, elevated NH3, hypoglycemia, possible electrolyte
disruption), coagulation studies (elevated PT, PTT, and INR)
 Imaging: CT/MRI of brain may show diffused cerebral edema
 Biopsy: liver biopsy will show microvesicular steatosis
 Dx: presentation/clinical history +/- imaging & biopsy
 Tx: admission with supportive care

4926: Pediatric GER (physiologic) & GERD (pathologic)

 Presentation
o Physiologic: “happy spitter”; child asymptomatic except for little spit-ups after feedings
o Pathologic: FTT/sub-optimal nutrition, irritability/feeding refusal, Sandifer syndrome (torticollis
& arching of the back during feedings from painful esophagitis)
 Sometimes may have constant hunger (child gets a buffering action from milk)
 Complications: laryngitis, bronchitis, wheezing/worsening of asthma, vocal cord
nodules, sub-glottic stenosis, bronchopulmonary constriction, Barrett’s esophagus
 Pathophysiology
 o Physiologic: shorter esophagus, immature LES causing times of incomplete closure, commonly
in the supine position
o Pathologic: incomplete closure of LES for any reason +/- gastric emptying delay
 Dx: clinical presentation + esophageal pH probe (shows episode of esophageal acidification correlating
with clinical signs)
o Barium UGI or scintigraphy showing frank aspiration would be diagnostic but less useful as this
is a severe presentation and much less common
 Tx
o Physiologic: frequent, small-volume feeds with holding the infant upright or 30min after meals.
Typically improves by 6mo and resolves by 1yr when the child can sit upright & LES matures
o Pathologic: H2 blocker or PPI + thickening feeds (add oatmeal) + upright positioning
 If this fails, surgical intervention may be needed

2458/2656/8791: Foreign Body Aspiration

 Risk Factors: intellectual disability, difficulty swallowing/Hx of choking, refusal to feed, vomiting
 Presentation:
o Esophageal (most common): persistent/worsening cough, vomiting, dysphagia
o Tracheobronchial: sudden onset stridor, coughing, focal monophasic or generalized wheezing,
dyspnea, diminished air movement on affected side
o Red Flags: hematochezia, melena, severe/new abdominal pain
 Pathophysiology: children love to put thing in their mouth. That’s really it.
o Coins are the most common item ingested
o Batteries/magnets/sharp objects are high risk require special attention with treatment
 Imaging: X-ray (66% normal; 33% object or lung hyperinflation seen from “ball-valve” obstruction of
bronchus), CT (if X-ray shows nothing)
 Dx: presentation + imaging or endoscopic visualization
 Tx: removal of object by various methods depending on situation
o Wait & Watch:
 Asymptomatic & non-high risk object  if passes to stomach within 24hr you can simply
monitor the poop to ensure proper passage
 High risk object past the esophagus  close follow-up for red flag symptoms & stool
examination; passage typically occurs without problem in 90% of children
o Flexible endoscopy: preferred for low-risk objects in the proximal esophagus on imaging
o Rigid endoscopy: used for impacted sharp objects in the proximal esophagus on imaging
o Rigid bronchoscopy: if in tracheobronchial tract; must be done promptly due to concern for
asphyxiation
o Note that induction of vomiting/diarrhea will not speed passage process & pushing of the
object into the stomach with endoscopy is not an acceptable treatment

2465/DiV: Malrotation with Midgut Volvulus

Bilious Emesis Differential Based on Age
 Any age – Adhesions, Hirschprung’s disease, incarcerated inguinal hernia, malrotation w/volvulus
 Neonate (0-1mo) – annular pancreas, duodenal atresia, imperforate anus, jejunoileal/colonic atresia,
meconium ileus, meconium plug, necrotizing enterocolitis
 Infant (1-24mo) – intussusception
 Child (2-12hr) – ileus 2nd to appendicitis, intussusception
Presentation
  Bilious or nonbilious vomiting (depends on part that has undergone volvulus) should always prompt a
search for midgut volvulus, as it can be a life threatening condition!
 Basically any developmental defect (esp of the gut) puts a patient at risk for volvulus
Pathophysiology
 The midgut is defined by receiving blood from the superior mesenteric artery (starting at the Ligament
of Treitz) and includes the 2nd part of the duodenum through the proximal 2/3 of transverse colon
 Development of the midgut occurs in the 6th week of gestation with rapid elongation and herniation
into the umbilicus. Ultimately this section of bowel undergoes 270 o of counterclockwise rotation,
finally finding it’s final resting spot around week 12.
 Malrotation occurs when midgut starts to take it’s first 90o angle turn and return from it’s herniated
position back to the abdominal cavity. Improper fixation causes the remaining 180 o of turning to occur
around the midgut mesentery, giving the classic “corkscrew” appearance.
 Problems occur when this bowel becomes kinked, resulting in obstruction and strangulation  bowel
ischemia and eventually death/perforation
 While acute volvulus is an emergent surgical event, malrotation doesn’t necessarily cause volvulus AND
volvulus may “kink and un-kink” causing colicky symptoms chronically.
Workup
 If patient is hemodynamically unstable, skip imaging and go to the OR
 Abdominal X-ray: exclude perforation (free air under diaphragm)
 Upper GI series with contrast: show the course of the gut and will be diagnostic for volvulus
o Most commonly, this is a normal study
o Classically shows “corkscrew” gut from improper rotation around mesentery
Management
 If free air under diaphragm or hemodynamically unstable proceed to surgery without more imaging
 Surgical fixation is necessary for resolution of malrotation/volvulus
o IV fluid resuscitation + ABx + NGT for stomach decompression + emergent laparotomy
o If bowel is not infarcted  Ladd’s Procedure (un-twisting, division of Ladd’s bands, fixation +
prophylactic appendectomy to avoid confusing symptoms later in life should appendicitis occur)
o If bowel is infarcted  bowel resection with Ladd’s Procedure
 During surgery; large bore NGT should be passed through the end part of the duodenum to rule out
atresia or other malformations of the gut
 If pt is found to have asymptomatic malrotation, surgery the the earliest convenience should be done

3078/3465/DiV: Hypertrophic Pyloric Stenosis

Differential Dx
 Surgically managed: antral web, pyoric atresia, pyloric stenosis, GERD from anatomic defect
 Medically managed: acute gastroenteritis, GERD, metabolic disorders, pylorospasm
Presentation
 Healthy baby with progressive non-bilious, projectile vomiting immediately following meals; baby will
always seem hungry despite vomiting (“hungry baby!”)
o Vomiting only food/mother’s milk directly after or during feeding sessions
o Olive shaped mass can be palpated and visible peristalsis can be seen in upper abdomen
o Sunken fontanelles from dehydration
 Risk factors: first-born child, erythromycin administration, formula feeding (late presentation at 3-5wk)
Pathophysiology
 Poorly understood; but histologic evidence points to immature/absent ganglia resulting in inability of
pylorus to relax, resulting in hypertrophy/hyperplasia and obstruction
  Stomach muscle hypertrophy/dilation occurs due to vigorous peristalsis in attempts to pass chyme
through the obstructing pylorus
 As stomach peristalsis strength grows, it becomes so intense that is overwhelms the lower esophageal
(cardiac) sphincter, resulting in projectile vomiting
Workup
 If palpable “olive” is appreciated  this is diagnostic, no further workup needed
 If no “olive” is appreciated  abdominal ultrasound showing pyloric thickness >3mm & length >15mm
are typically diagnostic (although this number can change with age!)
 If still uncertain or negative ultrasound with high suspicion  upper GI series with contrast showing
delayed emptying, retrograde peristalsis, and “string sign”/”tit sign” at the pylorus is diagnostic
o Major concern for aspiration of contrast fluid (as the child will surely vomit anything in it’s
stomach; thus this test should be done only if needed!)
 CMP may show a hypochloremic, hypokalemic metabolic alkalosis from protracted vomiting
o Hypochloremia – loss of Cl- ions from HCl in vomit
o Hypokalemia – dehydration from vomiting results in aldosterone activation to restore
intravascular volume with subsequent Na+ retention and K+ wasting
o Alkalosis – with decreasing K+, but still demand for Na+ resorption, the kidney is less able to
used the Na+/K+-antiporter. Na+ traveling more distally in the nephron results in more activation
of the Na+/H+ antiporter, wasting H+ to save Na+ resulting in paradoxical aciduria.
Management
 First Step: IV access with fluid resuscitation for protracted vomiting in this order:
o 1st - Isotonic normal saline bolus at 20mL/kg
o 2nd – D5 with ½NS at 1.5x normal infusion rate
o Once child urinates – add 20mEq/L KCl to the already running fluid
o Electrolyte abnormalities should be corrected before surgery
 Ramstedt pyloromyotomy – small incision into pylorus with spreading and fixation of the muscle to
relieve the obstruction; air or methylene blue are introduced via NGT to prove patency/lack of leak.
o Should be delayed until proper fluid resuscitation/electrolyte balancing has occurred
o Optimal fluid status shows normal urine output, serum bicarb <30mmol/L and normal K +
o Pt should be able to eat a few hours following surgery, although post-op vomiting isn’t
uncommon. Vomiting 3-4 days following surgery indicated complication
Areas of Trouble
 Inadequate fluid resuscitation may lead to anesthesia induced hypotension/death
 Leak – fever, tachycardia  feeding intolerance, leukocytosis  peritonitis, sepsis; must be re-
operated on to fix the leak

4290/DiV: Pediatric Abdominal Wall Defects (Umbilical Hernia/Omphalocele/Gastroschisis)

Differential Dx
 Gastroschisis – discussed below
 Omphalocele – midline abdominal wall defect with herniation of gut contents; amnioperitoneal
membrane covering gut contents, umbilical cord insertion into this membrane; heightened risk for
abnormal formation of other systems; liver herniation may allow for earlier detection
 Bladder/Cloacal Exstrophy – exstrophy of sac filled with hemi-bladder/urethra/kidney/intestine;
typically occurs inferior to umbilical stalk, often sac partially divides two hemi-bladders (inside and
outside), often extensive associated developmental defects
 Prune Belly Syndrome – abdominal wall hyposplasia, gut contents held within collagenous wall
(making it “pruned”), 95% males, associated with UG system underdevelopment (hypoplastic prostate,
bilateral undescended testes, infertility, bladder outlet obstruction)
  Urachal Abnormality – communication between bladder/anterior abdominal wall from poor/absent
ablation of the urachus. May be fistula/cystic sac/small outpouching. Associated with NTDs and
omphalocele
Umbilical Hernia
 Typically occur in children. Associated with congenital hypothyroidism (cretinism)
 In children, often are asymptomatic and resolve spontaneously without intervention
 In adults, associated with high intra-abdominal pressure (ascites, pregnancy, weight gain, etc.)
 Often close by age 2; repair should occur if it does not resolve by age 4, a >2cm defect is present or
progressive enlargement after 1yr occurs
Gastroschisis
 Risk Factors: <20yr, white race, single pregnancy, low BMI, frequent UTIs, cigarette smoking, drug or
alcohol use
 Presentation: Paraumbilical (right sided), small (<5cm) abdominal wall defect with evisceration of gut
contents and sometimes associated evisceration of gonads, bladder, & stomach
o Lacks membrane covering cut contents (gut exposed to open air)
o Cord insertion is normal at the umbilicus
o Causes matting, dilation, and thickening of bowels; malrotation is common; Ileus is common
o Rarely associated with other developmental abnormalities; intestinal atresia rarely (10-25%)
o Maternal AFP may be mildly elevated
 Pathophysiology: not totally clear, but thought to be due to vascular accident in the umbilical ring
resulting in poor development and defect development. Right sided defect is thought to be more
common due to involution of the right umbilical vein
o Bowel abnormalities are due to extended exposure to amniotic fluid causing inflammation
 Workup: Covering/Peds Surgery consult, blood labs, IV fluids, urine output monitoring, Full body X-ray
for anatomic survey/implanted device location check
 Management:
o Initial: stabilize airway, Central/Peripheral IV access, IV fluids, cover with sterile plastic wrap,
warming lamp, OG-tube decompression, urinary catheter, broad spectrum Abx
o Place viscera in sterile dacron-silastic silo to allow for gradual reduction as inflammation slows
o Attempt reduction & schedule for surgical reduction when abdominal laxity will facilitate repair
o Ventilation/fluid & nutrition support with intra-abdominal monitoring for healing
Omphalocele
 Risk Factors: <20 or >40yr, high BMI, SSRI use/family Hx
 Presentation: Umbilical/epigastric/or hypogastric variable sized (but often large) abdominal wall defect
with herniation of gut and sometimes the liver into a membrane sac
o Covered in amnioperiotneal membrane (10-20% will rupture)
o Cord insertion is into the amnioperiotneal membrane
o Bowl is typically normal appearing; malrotation often present; bowel function normal
o Commonly associated with other developmental disorders (Beckwith-Wiedemann, Trisomy
13/18, Pentology of Cantrell, various defects of the gut)
o Maternal AFP severely elevated
 Pathophysiology: results from arrest of lateral-body fold migration and body wall closure during
organogenesis. When normal gut herniation occurs around week 5, development arrests, leaving the
herniated gut in place until birth. This is thought to be due to a failure of cell migration, thus the higher
association with concomitant developmental defects.
o Note that liver herniation (giant defect) is rarely associated with chromosomal abnormality!
 Workup: Peds Surgery consult, blood labs, IV fluids, urine output monitoring, Full body X-ray for
anatomic survey/implanted device location check
 o Echocardiography for assessment of heart defects & genetic testing also recommended
 Management:
o Initial: stabilize airway, Central/Peripheral IV access, IV fluids, cover with sterile plastic wrap (if
sac is ruptured), warming lamp, OG-tube decompression, urinary catheter, broad spectrum Abx
o If ruptured – follow gastroschesis algorithm
o <2cm defect – immediate surgical reduction  support for healing
o 2-9cm defect – place viscera into sterile dacron-silastic silo for reduction  surgery/support
o >9cm defect – apply sclerosant to sac/cardiopulmonary stabilization  sterile dacron-silastic
silo for reduction  surgery/support
Which is More Urgent? Why?
 Short Term – Gastroschisis. The exposed, inflamed, nonfunctional bowel requires immediate
protection and surgical correction. The child also has increased insensible fluid losses which can also
cause problems
 Long Term – Omphalocele. The child has a protected, functional bowel. However, the high association
with other developmental defects makes the child’s future development very difficult and sometimes,
not viable.
Areas to Get in Trouble
 Remember to note respiratory distress and intubate as necessary
 Remember to carefully check for bowel ischemia/necrosis and address as needed
 Remember to wrap bowel in plastic wrap & warm with lamp immediately. Moist gauze is avoided as it
is not water-tight and will cause significant loss of insensible fluids
 TPN should be provided to patients with slow return of bowel function. Matted/inflamed bowels are
likely to be non-functioning.
 Post-reduction, abdominal compartment syndrome (low urine output, insufficient ventilation, positive
fluid balance) may occur. It should be monitored with intra-abdominal pressure monitoring.

3849/DiV: Esophageal Atresia with Tracheo-Esophageal Fistula

Presentation
 Excessive drooling with white/frothy mucus buildup in mouth/nose
 Cannot tolerate feedings with immediate gagging/choking and vomiting of food
 Oxygen desaturation with feeding – often implies severe abnormality in tracheo-bronchial anatomy
(some of feedings go into the lungs!)
o May result in respiratory distress/pneumonia development
 EA may manifest via polyhydramnios (failure of swallow) on prenatal ultrasound
Pathophysiology
 Esophageal Atresia: Abnormal development of trachea-esophageal fold which normally separates the
caudal primitive foregut into the esophagus and trachea
 TEF: thought to be due to defective epithelial-mesenchymal interactions in a lung bud that fails to
develop. This lung bud wants to hang out with the esophagus and the fistula is formed.
Types of TEF
 Many types with different combinations of defect/TEF
 Type C (proximal esophageal pouch with distal TEF) is most common (85%) with Type A (pure EA
without TEF) being next most common (8%)
Associated Abnormalities
 VACTERL, CHARGE, or Trisomy syndromes are often diagnosed
 VACTERL = vertebral, anorectal, cardiovascular, tracheoesophageal, renal, and limb abnormalities
 CHARGE = coloboma, heart defect, atresia choane, retarded growth, genital defects, and ear defects
Workup
  First Step: Placement of NG-tube with CXR (AP and lateral)
o Gastric bubble presence = some connection between air and stomach (no EA or EA + TEF)
o EA = shows NG-tube coiled in the esophagus/mediastinum or going into the trachea
o Checks for abnormal lungs = pneumonia, primary lung lesions, congenital diaphragmatic hernia
 Contrast esophagram may be used in equivocal findings; however, the concern of aspiration
pneumonitis should reserve this test only if truly necessary
 Diagnosis can be made simply with history and radiologic findings consistent with disease
Management
 First Steps: intubate if signs of respiratory distress, place NG-tube into esophageal pouch/elevate
child’s head (minimize vomiting thus aspiration).
 If pneumonia: broad spectrum Abx & gastrotomy tube for decompression should be placed
 Surgical repair: able to undergo repair surgery as soon as patient is stable/able to tolerate surgery
o Physical exam, cardiac/renal ultrasound, ECG, and X-rays for anatomic survey must be done
prior to surgery to ensure anesthesia tolerance/find all defects for repair
 Complications:
o Esophageal anastamotic leak (15%) – often heal with stricture needing surgical revision
o Strictures (80%) – need esophagostomy and balloon dilation
o GERD (100%) with increased risk of Barrett’s esophagus
 Prognosis: 100% survival rates, but often with significant GI complications that will be addressed
Areas of Trouble
 Interrupted IVC (IVC drains into the azygous vein to get to heart) – the azygous vein is typically divided
during EA/TEF repair. If interrupted IVC is present, this will cause cutoff of lower extremity venous
drainage & death of the patient
 Right-sided aortic arch – rare, but possible (esp. with developmental defects!). Right thoracotomy is
the typical approach for repair, thus right-sided AA would result in disaster. If present, a left
thoracotomy is the proper approach.
 Avoid intubation/ventilation if possible as the abnormal connections between the trachea and GI
tract may result in pumping air into the GI tract  abdominal distention. This distention will compress
lung volumes, leading to worsening lung function (the opposite of what you want!)

2480/3089/4302/4839/FA: Vitamin Deficiencies

 Vitamin A (retinoic acid; eyes/skin) – night blindness, corneal degeneration, Bitot spots (squamous
metaplasia of conjunctiva causing silvery-grey plaques) dry/scaly skin, immunosuppression, retardation
& fullness of the fontanelles in children
 Thiamine (B1) – classically from alcoholism or polished rice consumption in 3rd world
o Wet BeriBeri (heart) – dilated cardiomyopathy  high-output cardiac failure & edema
o Dry BeriBeri (PNS) – polyneuritis & symmetric muscle wasting
o Wernicke-Korsakoff syndrome (CNS) – metabolic damage to medial dorsal nucleus of thalamus
& mammillary bodies; confusion/opthalmoplegia/ataxia  confabulation, antero & retrograde
amenesia, personality changes. Must give thiamine before glucose in these patients (impaired
glucose metabolism = worsening of symptoms!)
 Riboflavin (B2; mouth/eyes) – cheilosis (inflammation of lips causing scaling/cracking at angles of
mouth), glossitis (inflamed/red tongue) & corneal vascularization (blurring/burning/itching of eyes)
 Niacin (B3) – glossitis  pellagra (4Ds = Diarrhea, Dementia, photoDermatitis, Death)
o Hartnup disease, carcinoid syndrome, isoniazid, and corn-based diet can all lead to this
 Pyridoxine (B6; brain/blood) – convulsions, irritability, peripheral neuropathy, sideroblastic anemia
o Isoniazid, OCPs, and goat’s milk can all cause this
  Biotin (B7) – rare but classically occurs with consumption of raw egg-whites (avidin); dermatitis,
alopecia, & gastroenteritis
 Folate (B9) – megaloblastic anemia, hypersegmented neutrophils, glossitis
o More common cause of megaloblastic anemia (low stores in the liver); differentiated from B12
by high homocysteine/normal MMA levels
o Caused by: Medications (phenytoin, sulfonamides, methotrexate) & goat’s milk
o Lack of supplementation in pregnancy increases risk of neural tube defects
 Cyanocobalamin (B12) – megaloblastic anemia, hypersegmented neutrophils, beefy-red tongue,
stocking-glove neuropathy paresthesias (myelin degeneration)  subacute combined degeneration
o More commonly due to lack on intrinsic factor/terminal ileum resection; rarely due to
veganism; differentiated from B9 by high homocysteine/high MMA
 Vitamin C (ascorbic acid) – poor collagen synthesis  scurvy (swollen gums, bruising, petechiae,
hemarthrosis, subperiosteal hemorrhage, anemia, poor wound healing, perifollicular hemorrhage with
corkscrew hairs) & weakened immune response
 Vitamin D – rickets (kids), osteomalacia (adults), hypocalcemic tetany (severe); must supplement in
exclusively breastfed babies
 Vitamin E (tocopherol) – hemolytic anemia, acanthocytosis (spikey RBC), muscle weakness (similar to
B12, but without characteristic hematologic findings!)
 Vitamin K (phylloquinone) – neonatal bruising, bloody stools, or intracranial hemorrhage occurring in
1st week of life; prolonged aPTT/PT
o Neonates are naturally deficient in Vit. K naturally due to lack of gut colonization, poor
placental transfer of Vit.K, immature liver function, & little Vit.K in breastmilk
o Denial of Vit.K shot, long-term use of Abx, or Cystic fibrosis (AEDK deficiency) are all common
scenarios where neonates are not Vit.K replete & complications occur
 Zinc – delayed wound healing, decreased adult hair, dysgeusia, anosmia, acrodermtitis enteropathica
(symmetric dry vesiculo-bullous scaly rash, FTT, chronic diarrhea)
 Copper – poor wound healing/connective tissue formation/microcytic anemia (poor Fe2+ absorption)
 Chromium – decreased glucose tolerance; typically caused by TPN
 Selenium – increased cell damage/poor wound healing/dilated cardiomyopathy; typically from TPN use
 Fluoride – dental caries
 Protein (Marasmus) – emaciation, edema, ‘broom-stick appendages’
 Calorie (Kwashiorkor) – malnutrition, edema, anemia, fatty liver, skin lesions (flaky/de-pigmented); this
is the classic starving African child

2480/4302/FA: Vitamin Excess

 Vitamin A (retinoic acid)
o Acute – nausea/vomiting/vertigo/blurred vision
o Chronic – classically occurs in person on isotretinoin for ance; alopecia, dry skin, hepatic
damage/hepatomegaly, arthralgia, pseudotumor cerebri
o Teratogenic – classically in teen on isotetinoin for acne; must be on two formed of birth control
for this medication; cleft palate/cardiac abnormalities
 Niacin (B3) – niacin flush; avoided by taking aspirin with niacin
 Vitamin C – nausea, vomiting, diarrhea, fatigue, calcium-oxalate nephrolithiasis
 Vitamin D – hypercalcemia, hypercalciuria, loss of appetite, & stupor
 Fluoride – chalky white/brown tooth enamel, ligamentous calcification, increased bone fracture risk

Ethics
3623/3624/4846: Informed Consent
  Medical Circumstances where minors don’t need consent: emergency care (unstable airway, blood
transfusion, or emergency surgery are classic examples!), STI treatment, substance abuse treatment,
prenatal care treatment, contraception
 Emancipated minors: homeless, parent, married, military, financially independent, high school
graduate or aged 18yr
 Often the hospital ethics committee gets involved if neither of the above situations are present & the
parent/legal guardian is incompetent or the medical decisions being made will likely harm the patient
 Refusal of vaccines is typically honored unless there is a high risk situation or need for vaccination is
part of emergency care (such as tetanus exposure)
o Consent may only be given by a parent with legal custody of the child
o If parents share joint custody, only one parent is needed to allow the medical decision (even if
the other does not want the medical decision to be made)
o If both parents refuse life-saving treatment, court-order should be sought for life-saving Tx

9848: Firearm Injury

 Risk Factors: male adolescent, behavioral/psychiatric problems, Hx of impulsive/criminal/violent
behavior, or low SES
 Firearm injury occurs almost always due to access in the home/relative’s home/friend’s home
 Prevention:
o Remove all firearms in the home (often the first & most important step)
o If removal is not possible, firearms should be 1stored un-loaded & 2weapon and ammo should
be stored in separate locked containers

4320: Child Abuse

 Presentation: can be different depending on situation and child
o Unexplained/unlikely injury (cigarette burns, scalding of the legs/buttocks, bruising of the
legs/buttocks, spiral fracture, shaken baby syndrome, etc.)
o Multiple fractures in different stages of healing
o Malnutrition
o Sudden changes in behavior or scholastic abilities
 Risk Factors:
o Caregiver: young/single parents, low SES, substance abuse, psychicatric conditions, Hx of abuse
o Home environment: unstable (divorce, conflict, poverty, etc.), recent loss of job, lack of social
support, domestic violence in/around the home
o Victim: intellectual disability, emotional/psychiatric illness, unplanned/unwanted child
 Remember that physicians are mandated reporters and must report suspected cases of child abuse to
Child Protective Services

3235: Refusal of Treatment

 While some treatments may be refused life-saving treatment refusal should not be honored (even if
rationale is for religious/cultural reasons)
 A typical situation is with a disease where treatment has a good prognosis, but lack of treatment would
surely result in death/disability (Acute Lymphoblastic Leukemia is a good example)
 In these situations, the physician should:
o Continue to explain the benefits of treatment and consequence of lack of Tx
o Seek aid from the Ethics Committee, Social Services, Risk Management, and possibly the Law (in
the form of a court ordered mandate for treatment)
o Not engage in un-consented treatment until the proper channels have been taken
Infectious Disease
2782: Different Forms of Infection Precautions
 Contact precautions (gown/gloves) – effective against contact (fecal-oral)
 Droplet precautions (surgical mask) – effective against short-range droplets (coughs/sneezes)
 Airborne precautions (N95 mask, negative pressure room) – effective against airborn pathogens
 Hand Hygiene – effective against fecal-oral, contact, droplets, & secretions

4353/4843: Lymphadenitis
 Presentation: fever, symptoms of infection (URI/etc.), & lymph node that becomes swollen, enlarged,
tender, erythematous, +/- poorly mobile (often affected submandibular nodes)
o Typically occurs in a well-appearing child <5yr old
o May progress into fluctuant/indurated mass
o Unilateral typically = bacterial & bilateral typically = viral
 Micro:
o Acute unilateral: S.aureus > S.pyogenes > Prevotella Buccae or Anaerobes (+dental caries) >
B.henslae (+history of nodule at site of cat scratch) > Kawasaki’s disease
o Acute bilateral: adenovirus (pharyngoconjunctivits) > EBV/CMV (+mono) > Toxoplasmosis > HIV
o Subacute: Mycobacterium avium complex (+slow onset; nodes non-tender)
 Dx: clinical presentation +/- throat swab & culture
o If unresponsive to treatment – TB/Toxoplasmosis may be considered
 Tx: empiric Tx with clindamycin (covers Staph/Strep spp) or directed therapy with culture if needed

2781/3642: Impetigo
 Presentation (micro)
o Non-bullous (S.aureus/S.pyogenes): painful, non-pruritic papules  pustules that easily
rupture forming “honey-crusted” skin lesions
o Bullous (S.aureus): rapidly enlarging bullae with yellow fluid & collar of scale surrounding
ruptured lesions
o Previous skin lesions (eczema, abrasion, bug bite) are risk factors due to breaking skin barrier
 Dx: clinical presentation
o ASO titer is not useful unless complications arise (takes weeks to rise)
o Skin swab is not useful (skin flora contamination would be extensive)
 Tx:
o Limited skin involvement: topical Abx (mupirocin)
o Extensive skin involvement: oral Abx (cephalexin, dicloxacillin, clindamycin)
o Thorough hand washing greatly decreases transmission & should be encouraged

2193: Pharyngitis
 Presentation: very common infection, which can present differently depending on etiology
o Common: sore throat, dysphagia, odynophagia, pharyngeal/tonsillar erythema
o Bacterial: +tonsillar exudates, edema, palatal petechiae, & lack of viral symptoms
o Viral: +viral symptoms (cough, rhinorrhea, conjunctivitis, oral ulcers)
 Micro: Strep. pyogenes (GAS); viruses vary
 Dx: rapid strep (RSAT) & throat culture (either + means bacterial infection)
o Note that the Centor criteria (use in adults) are NOT accurate in pre-adolescent children
o Centor Criteria looks for Tonsillar exudates, tender anterior cervical lymphadenopathy, absence
of cough, and history of fever.
 0-1 out of 4 (80% neg predictive): analgesics and supportive care only
  3 out of 4 (60% pos predictive): rapid strep/delayed strep testing with Tx if positive
 4 out of 4: Throat culture + antibiotics
 Tx:
o Bacterial: oral amoxicillin or penicillin
o Viral: supportive care only

3285/3286/4850: Rhinosinusitis
 Risk factors: antecedent viral URI (most common; inflammation = poor ciliary clearance of mucus); less
common include allergic rhinitis, anatomic obstruction, environmental irritants
 Presentation:
o Viral: URI symptoms lasting <7 days; symptom Tx is only needed Tx
o Bacterial: symptoms last >7 days; fever, thick/persistent nasal discharge (yellow/green
purulent), nasal congestion, inflammation & swelling of nasal turbinates, tender maxillary
sinuses, facial pain, maxillary tooth pain, cough/wheezes
o Alarm signs: epistaxis, turbinate destruction, palate eschar, maxillary cyanosis
 Micro:
o Acute (S.pneumo = non-typable H.flu > Moraxella catarrhalis)
o Chronic (S.aureus)
o Nosocomial/Immunosuppressed (Pseudomonas)
o Red flags present (Fungal)
 Labs: Nasal swab & Culture
o If failure to improve or worsening on Abx  needle aspiration of maxillary sinus with culture
 Imaging: CT sinuses (sinus opacification, mucosal thickening, air fluid levels)
 Dx: clinical presentation
o Acute: persistent symptoms >10 days; severe symptoms, fever >102, face pain >3 days;
worsening symptoms >5days following viral URI
 Tx: Amoxicillin-clavulanic acid, short course (<3 days) decongestants, and NSAIDs/Acetaminophen
o Failure to improve should prompt aspiration & susceptibility testing for change of Abx

3326/4845/8784: Pre-septal (Peri-Orbital) vs Orbital Cellulitis

 Risk Factors: sinus infection is the biggest risk factor via local spread of infection
 Presentation: these diseases differ only in a slightly different location (superficial vs deep to the orbital
septum) and are often confused. Unfortunately, they have VERY different clinical courses. Either of
these can result from existing infection or local trauma.
o Common: eyelid edema/erythema/tenderness, fever, leukocytosis
o Pre-septal: (no additional features)
o Orbital: opthalmoplegia, pain with extraocular movements +/- proptosis & vision impairment
(blurry vision or diplopia)  blindness, subperiosteal abscess, cavernous sinus thrombosis,
intracranial infection, or death!
 Pathophysiology: concern in orbital cellulitis is due to the valve-less ophthalmic venous system which
may allow infection to spread to the skull/brain
o Nasofrontal vein/anterior ethmoid vein/lacrimal vein  superior ophthalmic vein
o Posterior ethmoid vein  inferior ophthalmic vein
 Superior/inferior ophthalmic veins  cavernous sinus  brain
 Micro: S.aureus, Strep. pneumo, or other Strep spp.
 Imaging: CT of eye orbits used if differentiating the two is unclear
 Dx: clinical presentation +/- CT of eye orbits
 Tx:
 o Pre-septal: outpatient oral Abx
o Orbital: admission with IV abx & close monitoring

2196/2845/3288/3289/4891: Epiglottitis
 Presentation:
o Prodrome: URI (cough, congestion, rhinorrhea)
o Airway compromise: restlessness/anxiety, muffled “hot-potato” voice, “cherry red” epiglottis,
stridor/trouble breathing, dysphagia, drooling, “tripod” positioning (upright/forward
positioning with neck hyperextension)
o Most commonly occurs in unvaccinated children (didn’t get the Hib vaccine), however
vaccinated children can still contract the disease
 Pathophysiology: acute inflammation of the epiglottis/arytenoids/aryepiglottic folds
 Micro: Haemophilus influenza (type b) or S.pyogenes (less common)
 Imaging: lateral neck X-ray showing “thumbprint sign” (epiglottic swelling)
 Dx: clinical presentation +/- imaging
 Tx:
o Offer humidified O2 (while waiting on intubation) + avoid airway distress (no tongue depressor)
o Immediate endotracheal intubation (protect airway before it closes)
o Abx (based on most likely pathogen); if H.flu rifampin prophylaxis for family members needed

2424/3288: Laryngotracheitis (Croup)

 URI causing acute inflammation of the trachea/larynx; commonly in fall/winter months
 Presentation: low pitched "barking/seal-like" cough, stridor, hoarseness, and trouble breathing worse
at night/when excited/with exercise
o Most commonly occurs between age 6mo – 3yr
o May result in upper airway obstruction (prominent stridor, respiratory distress) from subglottic
edema and intercostal retraction on inspiration
o Spasmodic Croup: significant stridor/difficulty breathing only at night (better in daytime) with
croup-like symptoms; often relieves itself after onset
 Micro: parainfluenza virus
o May be spasmotic (not caused by infection), but instead due to nighttime laryngospasm
 Imaging: A-P/lateral neck X-ray showing steeple sign (sub-glottic edema/stenosis)
 Dx: presentation +/- imaging
 Tx: single dose of dexamethasone, either orally or intramuscularly, is appropriate to shorten disease
course, reduce croup scores and shorten hospital stays. Prolonged courses of corticosteroids provide
no additional benefit.
o Try to avoid irritating procedures (use of a tongue blade) unless necessary
o If upper airway obstruction present, aerosolized racemic epinephrine should be added
(mucosal arteriolar constriction) and demonstrable improvement must be shown for discharge
o Intubation may be necessary if improvement does not occur
o Spasmodic croup often treated with cool mist in the evenings to sooth the throat (classically
child is exposed to “cool night air” and relief is noted)

3288/3553: Bronchiolitis
 Acute inflammation of the lower respiratory tract (bronchioles)
 Presentation: fever, cough wheezing, labored breathing without improvement with bronchodilators;
spleen/liver may seem enlarged due to lung hyperinflation
o Onset age <2 years; may be recurrent, since an infection does not provide immunity
 o Often epidemics occur during November - April
o Typically, illness takes 10 days – 2wks to resolve entirely (2 day prodrome  3 day respiratory
distress  up to 2wk alternating OK/distress  resolution)
o Complications:
 Neonates (<2mo): apnea spells & respiratory failure
 Children: wheezing past age 5 (10%) & predisposition to asthma.
 Imaging: CXR (hyperinfiltration/air trapping, patchy infiltrates of atelectasis)
 Micro: respiratory syncytial virus (RSV)
 Dx: clinical presentation, ruling out life threatening problems
 Tx: supportive care (O2 supplementation, IV fluids) +/- bronchodilator treatment if helpful
o Typically, a trial of an inhaled albuterol, with treatment continued only if the initial dose proves
beneficial is recommended
o Aerosolized ribavirin may be considered in very sick infants
o Corticosteroids, antibiotics, and decongestants are of no benefit
 Prevention: palivizumab (anti-RSV monoclonal antibody) for infants with 1preterm birth <29wk,
2chronic lung disease of prematurity, or 3hemodynamically significant congenital heart disease

2869/3007/3131/3444/3611/4354: Infectious Mononucleosis (Epstein-Barr virus)

• Presentation: fever, malaise, lethargy, lymphadenopathy (tonsillitis, swollen cervical lymph nodes,
swollen eyelids), tonsillar exudate, +/- hepatosplenomegaly
o Complications: acute airway obstruction (intense tonsillitis), peritonsilar abscess
(superinfection), post-Abx rash after (amoxicillin or ampicillin; polymorphous/macropapular
pruritic rash covering entire body; poorly understood mechanism; not considered a true allergy,
pt may take these drugs in future without any concerns)
o Initial HIV infection can look similar but will be fever, malaise, lymphadenopathy, diarrhea, and
rash  it’s actually reasonable to test for HIV if monospot is negative
o Autoimmune hemolytic anemia/thombocytopenia is a complication of EBV-mono from EBV-
antibodies (IgM cold-agglutinin anti-I antibodies) cross-reacting with RBCs/platelets. Occurs
approximately 2-3 weeks post infection
o Nasopharyngeal carcinoma/Burkitt’s lymphoma both can we caused by EBV
• Dx: heterophile antibody (monospot) test; Anti-EBV antibody test
o Monospot has 25% false negative on first week of disease & poor sensitivity in children <4yr of
age; viral capsid antigen (VCA), early antigen, & Epstein-Barr nuclear antigen (EBNA) are
preferred in children <4yr (antibody formation isn’t reliable)
o Smear showing variant lymphocytes with convoluted nuclei and vacuolated cytoplasm
o Transient hepatitis (elevated transaminases)
• Tx: rest and avoidance of strenuous activities for >3weeks after onset (risk of splenic rupture)
o If acute airway obstruction: inhaled corticosteroids (decreased inflamed tonsils)
o Splenic rupture: abdominal pain and anemia

2270: CMV mononucleosis-like syndrome

• Presentation: mono symptoms (fever, fatigue, myalgias, arthalgias), no pharyngitis/lymphadenopathy.
o Negative heterophile antibody (monospot) test
o Atypical lymphocytes (large, basophilic, with vacuolated appearance)
• Dx: clinical presentation
• Tx: ganciclovir
4317: Cat Bites
 Pathophysiology: due to their long/sharp teeth, cat bites can easily deposit bacteria deep into the
dermis, resulting in an increased risk for infection & soft-tissue structural damage (nerve, tendon, etc.)
 Micro: Pasturella multocidia, anaerobic bacteria
 Tx: copious irrigation/cleaning + prophylactic amoxacillin/clavulanic acid (activity vs the two most
common bugs) + tetanus booster (if last dose >5yr ago) + avoidance of closure (allow for drainage)

11984: Cat-Scratch Disease (Bartonella henslae)

 Presentation: Hx of cat scratch/bite or flea bite with papule/nodule at site  fever of unknown origin
(>14 days), localized lymphadenopathy starting 1-2wk following initial presentation
o Kittens have a higher incidence of carrying this disease
 Dx: clinical presentation +/- serology
 Tx: azithromycin (reduced duration of lymphadenopathy)

3002/4814: Human Rabies

 Presentation: hydrophobia/aerophobia (causes involuntary pharyngeal muscle spasm), agitation,
aggression, disorientation, spastic paralysis  ascending flaccid paralysis
o Incubation time of 1-3mo; near 100% mortality once symptoms arise
 Pathophys: virus binds nACh receptors, enters into neurons moving retrograde via the dorsal root
ganglion into the Purkinje/pyramidal cells of of the hippocampus
o Transmission is from saliva from infected animal bite (bat >>> fox, skunk, raccoon)
o Often bat bites are small & go unnoticed; pt may have Hx of caving or camping
 Micro: rhabdovirus
 Dx: clinical presentation
 Post-exposure Prophylaxis (PEP) – Thorough cleansing of the wound (reduce risk by 90%) + Rabies
vaccine (if person hasn’t gotten it before) + passive immunization (human rabies Ig)
o High risk wild animal bite – includes bat, fox, raccoon, coyote, skunk
 If animal unavailable start PEP
 If animal available; euthanize it/test for rabies  PEP if positive
o Low risk animal bite – squirrel, chipmunk, mouse/rat, rabbit  No PEP
o Pet – if a pet (usually a dog) DOES have rabies, they’ll show signs within 10 days
 If available for quarantine  observe 10 days  if shows signs of rabies, euthanize pet
and do PEP immediately
 If not available for quarantine  start PEP
o Livestock or unknown wild animal – call the health department

2857/3329/3660/3758: Neonatal Conjunctivitis

 Chemical (<24hr) – mild conjunctival irritation and tearing
o Pathophys: irritation from any chemical; classically follows routine silver nitrate prophylaxis
o Tx: eye lubricant/supportive care
 Gonococcal (2-5 days; N.gonorrhea) – severe swelling/chemosis (conjunctival injection), profuse
purulent discharge  corneal edema, ulceration  scarring/blindness
o Pathophys: inoculation by infected vaginal secretions during birth; while moms are screened,
most cases occur with moms that become infected during their pregnancy
o Dx: gram stain + culture on Thayer-Martin agar of eye secretions
o Tx: IM injection of 3rd gen cephalosporin (ceftriaxone/cefotaxime)
o Prophylaxis: erythromycin ointment on the eyes (for all babies in the US) or silver nitrate
(babies in other countries; concern of chemical conjunctivitis)
  Chlamydial (5-14 days; C.trachomatis) – mild swelling/chemosis, discharge ranging from watery,
serosanguinous, or purulent  corneal edema, ulceration (Trachoma)  scarring/blindness
o Pathophys: inoculation by infected vaginal secretions during birth; while moms are screened,
most cases occur with moms that become infected during their pregnancy
o Dx: PCR of eye secretions for C.trachomatis
o Tx: oral macrolide (azithromycin preferred; erythromycin linked with pyloric stenosis!) to kill off
eye and nasal colonization (worry of Chlamydia pneumonia!)

Childhood Conjunctivitis

2857: Trachoma
 Presentation: eye swelling/chemosis with follicular conjunctivitis (clusters of follicles on the eye) &
pannus formation (neovascularization of the cornea)
o Typically occurs with concurrent nasopharyngeal infection (persistent runny nose)
o The #1 cause of blindness worldwide (repeated infections  scarring)
 Micro: C.trachomatis serovar Type A/B/C
 Dx: PCR for C.trachomatis or Giemsa stain of eye secretions
 Tx: topical tetracyclines or oral azithromycin

2428: Neonatal Sepsis

 Presentation: often subtle, most commonly with early decreased activity/poor feeding (esp. <28d old)
o Other signs: Temperature instability (hypothermia or fever), abnormal white count (high or
low), left shift (“bandemia”), jaundice, CNS disturbance (lethargy/irritability/apnea)
o Because it can be subtle & lack the common presenting signs, sepsis/serious infection should
always be high on the differential for neonates!
 Labs: CBC, blood smear/culture, CSF analysis/culture, urinalysis/culture
o CT is not needed prior to neonatal LP as the open fontanelles will simply budge with increased
intracranial pressure, stopping post-LP herniation
 Dx: presentation + labs
 Tx: parenteral empiric abx (gentamicin + ampicillin) after cultures drawn
o If neonate is critically ill, do not wait for cultures and give Abx

9849/SkM: Coxsackie Viruses

 Both viruses commonly come around in summer months (classically around when school is starting up)
& affects kids ages 3-10yr
 Coxsackie-A
o Herpangina: fever, pharyngitis, grey vesicles/ulcers on tonsillar pillars/posterior oropharynx
o Hand-Foot-Mouth Dx: (+)red vesicular rash of hands/feet
o Aseptic meningitis: typical meningitis signs/symptoms from progression of Dx
 Coxsackie-B
o “Devil’s Grip”: extreme unilateral throat pain causing difficulty breathing
o Dilated cardiomyopathy: often signs of heart failure with characteristic imaging
 Dx: clinical presentation
 Tx: supportive care (may need hospitalization & intense support if severe)
9849: Herpetic Gingavostomatitis
 Presentation: fever, pharyngitis, inflamed gingiva, clusters of small vesicles (dew-drops on rose petal)
of the anterior orophaynx/lips
o No seasonality; typically presents in children aged 6mo – 5yr
 Micro: HSV-1
 Dx: clinical presentation +/- Tzank smear or PCR testing
 Tx: oral acyclovir

3243/3257/3261/3636/3836/3900: Lyme disease (Borrelia Burgdorferi from the Ixodes Scapularis tick)
 Presentation
o Early local (days – 1 month): erythema migrans, fatigue/malaise, mild headache, neck stiffness,
myalgias/arthralgias
o Early disseminated (weeks – months): Heart (5%, AV-block, cardiomyopathy); CNS (15%,
uni/bilateral Bell’s palsy, meningitis, encephalitis); Muscle (60%, migratory arthralgia), Eye (10%
conjunctivitis), Skin (multiple erythema migrans!), regional lymphadenopathy
o Late (month – years): Muscle (60%, migratory polyarthritis), CNS (encephalomyelitis, peripheral
neuropathy)
 Labs: synovial fluid aspiration (if joint involvement; leukocytosis, negative gram stain, PCR for BB DNA,
ELISA for BB DNA, or Western blotting for BB DNA)
 Dx: Labs + clinical presentation following tick bite (25% report this) or travel to Lyme Endemic Area
(New England or Minnesota/Wisconsin areas)
o Classically occurs with hiking & direct contact with leaf litter/plants harboring ticks
 Tx:
o Oral Doxycycline – first line; good as it kills B.burgdorferi AND anaplasmosis (another tick borne
illness); bad as it can cause teratogenic mental retardation and teeth discoloration
 Bell’s Palsy: artificial eye drops and eye patching at night are recommended
o Oral amoxicillin – for pregnant women and children <8yrs (concern for doxycycline toxicity)
o IV ceftriaxone/cefotaxime – for disseminated dx, heart block, or meningitis caused by Lyme
Disease; hospitalization required to administer

4662: To prevent infection with Lyme Disease (B.burgdorferi), any person with a tick attached to their skin
should immediately remove the tick by taking tweezers, pinching as close to the skin as possible, and gently
remove the tick with upward pressure.
 Prevent tick attachment with tick repellants, protective clothing, tick checks, and bathing
 Removal of the tick in <24 hr has a low transmission rate even if the jaw/head are attached
 Pt should seek medical attention if erythema migrans rash pops up
 Pt should receive doxycycline (or other appropriate abx) prophylaxis if they meet ALL 5 criteria:
o Tick is ixodes scapularis
o Tick attached for >36 hrs and engorged
o Prophylaxis can be initiated with 72hr of tick removal
o Local Lyme disease infection rate is >20% (endemic area)
o No doxycycline contraindications (pregnancy, breastfeeding, <8yrs old)

3005/3571: Causes of Osteomyelitis in Children

 <2mo: GBS/E.coli
 2mo – 4yr: Kingella kingae
 >4yr: S.aureus
  Sickle cell: Salmonella spp./S.aureus

2447/3577: Septic Arthritis in Children

 Presentation: acute onset fever/joint pain, fatigue/malaise, absolute refusal to bear weight on affected
joint, pain with active/passive movement, swollen joint with erythematous/warm overlying skin
o Often preceded by skin infection or URI (hematogenous spread of bacteria into joint space)
o Complications: rapid/permanent joint destruction (4-6hr can result in this!)
o If joint fluid is sterile, consider transient synovitis
 Labs: CBC (elevated WBCs), blood culture, ESR/CRP (elevated), synovial fluid culture (below)
o Normal synovial fluid – clear, <200 WBCs, <25% neutrophils
o Non-inflammatory (OA) – clear, 200-2000 WBCs, 25% neutrophils
o Inflammatory (crystals/RA) – translucent or opaque, 2000-100,000 WBCs, >50% neutrophils
o Bacterial infection – opaque or purulent, >50,000-150,000 WBCs, >80% neutrophils
 Micro: <3mo (Staph spp, GBS, gram negative bacilli); >3mo (Staph spp, GAS, Strep. pneumo)
 Imaging: Ultrasound of joint to assess for joint effusion (if effusion present…tap it!)
o MRI of joint if pt fails to improve after 48hr of Abx (concern for osteomyelitis)
o Pain radiograph of the hip isn’t helpful for Dx, but may help in ruling out other hip problems
that may present with similar symptoms
 Dx: arthrocentesis with synovial fluid culture
 Tx: Immediate surgical drainage + IV empiric Abx (shown below) switching to targeted once
susceptibilities are available given immediately after arthrocentesis
o <3 mo: anti-staph (nafcillin or vancomycin) + GNR coverage (gentamicin or cefotaxime)
o >3mo: nafcillin, clindamycin, cefazolin, or vancomycin
o Surgical drainage/debridement/irrigation = most important factor in preventing disability

3441/3671/4833: Causes of Meningitis in Children

 Bacterial
o <3mo: GBS > E.coli (gram neg. bugs) > L. monocytogenes > Herpes simplex (HSV)
o 3mo – 10yr: S.pneumoniae > N.meningitis
o >11yr: N.meningitis
 Viral: non-polio enteroviruses (echovirus/Coxsackie virus)

2442/3441/3442/10904/SkM: Neisseria meningitides (‘meningococcus’)

• Gram (-), doughnut-shaped diplococcus; un-encapsulated
• At risk populations:
o Infants aged 6mo – 2 yrs - this is the time frame where mom’s antibodies to the bug are no
longer present in the baby, and it hasn’t had a chance to make it’s own yet
o College freshman/army recruits/inmates - lots of people getting crammed together in an
dorm/army barrack often will share their strains…which can make some sick
o People with C5,6,7,8,9 compliment deficiency - all needed to form the MAC complex which is
necessary for killing Neisseria spp.
Diseases it Causes
• Meningococcemia - entry of the meningococcus into the blood causing acute illness
o Abrupt spiking fevers, chills, joint/muscle pain, petechial rash
o Worry of acute illness spreading through the body/into the CNS causing further disease
• Fulminant meningococcemia (Waterhouse-Friderichsen syndrome) - septic shock from infection
o Bilateral hemorrhage into the adrenal glands  adrenal insufficiency
o Widespread inflammation  hypotension/tachycardia/large petechial rash
 o DIC/coma may occur with progression, with death following soon after (near 100% mortality)
• Meningitis - entry of meningococcus to the CSF, often following meningococcemia
o Young Infants - ever, vomiting, irritability, lethargy, bulging fontanelle
o Older Kids - fever, vomiting, photophobia, irritability, lethargy, stiff neck (older), Kernig sign
(back/neck pain with flexion of hip  extension of knee), Bruzinki’s sign (flexion at the knees
with passive flexion of the neck)
o Adults - fever, vomiting, photophobia, irritability, lethargy, stiff neck, Kernig/Brudzinki’s signs
petechial rash (specific for gonococcus)
o CSF findings:
 Neutrocytosis - chemotactic response to infection
 Reduced glucose levels - host stress response to limit energy substrates from bacteria
 Elevated protein - BBB breakdown to allow for chemotaxis
o Complications in children:
 Hearing loss (most common), intellectual disability, cerebral palsy, epilepsy, visual loss
(rare, typically in occipital lobe infection)
 All children with bacterial meningitits should have followup developmental and
audiologic testing
Diagnosis
• Often strong suspicion should prompt immediate empiric treatment
• Gram-stain/culture on Thayer-Martin VCN (A chocolate agar with Vancomycin, colistin, nystatin) or
rapid antigen test for pathogenic N.meningititis strains
• Maltose/glucose fermentation (specific for N.meningititis)
Vaccine
 First time age 11 – 12
 Booster age 16 – 21
 High risk: college dorm, military recruit, living in sub-Saharan Africa, Muslum Hajj to Mecca

3245/3633: Empiric Treatment for Meningitis

 Make the Diagnosis or Immediately treat?
o If child is sick but stable: LP for CSF analysis first; treat upon confirmation of infection
o If child is unstable: initiate IV Abx with stat LP for CSF analysis
 Empiric Treatment options
o Age <2: vancomycin + ceftriaxone/cefotaxime + ampicillin (Listeria coverage!)
 Cefotaxime better in neonates (won’t displace bilirubin from albumin mitigating the risk
for induced hyperbilirubinemia & kernicterus)
o Age 2-50: vancomycin + ceftriaxone/cefotaxime
o Age 50+: vancomycin + ceftriaxone/cefotaxime + ampicillin (Listeria coverage!)
o Recent Neurosurgery/shunt: vancomycin + cefepime (4th gen cef)
o Penetrating injury to skull: vancomycin + cefepime
o Immunocompromised: vancomycin + cefepime + ampicillin
o Note that all regimens should also treat with dexamethasone or methylprednisolone
(decreases risk of sensoneurial hearing loss)

4833/Neuro: CSF Fluid Analysis

 Normal: clear fluid; glucose is 2/3 of blood glucose; 40-50mg/dL of protein; <5 WBCs per mm3 with
lymphocyte predominance; Opening pressure 60-150 mm H2O in fetal position
 RBC presence:
o No xanthochromia: traumatic tap (may be some in first few samples of CSF)
 o Xanthochromia: yellowish discoloration of spun CSF supernatant due to lysed RBCs in the
sample from in vivo bleeding into the CSF
 Positive EBV on PCR: strongly suggests CNS lymphoma in immunosuppressed/AIDS patients
 14-3-3 protein: specific for Creutzfeldt-Jakob disease

Disease Cell Protein Glucose Other Findings

Bacterial Meningitis PMNs (neutrophils) High Low Culture/Gram stain may be
positive
Viral meningitis Lymphocytes Normal Normal Viral PCR may be positive
/Encephalitis - High
TB meningitis Lymphocytes Very Very Acid-fast bacilli positive
High low
Guillain-Barre syndrome Normal Normal Normal
- High
Multiple Sclerosis (MS) Lymphocytes Slight Normal Oligoclonal Bands may be present
increase
Acute Disseminated PMNs (neutrophils) High Normal Ologoclonal Bands often absent
Encephalomyelitis or lymphocytes (differentiates from MS)
Subarachnoid Hemorrhage Lymphocytes or Normal Normal Xanthochromia
many RBCs - High

3458/3905/3906: Pertussis (Bordatella Pertussis; Whooping Cough; “100 Days Cough”)

 Small Gram(-) coccobacilli; encapsulated
 Presentation: occurs in three stages of disease
o Catarrhal: mild cough/rhinitis/conjunctival bleeding (1-2wk)
o Paroxysmal: worsening cough with classic inspiratory “whoop” & post-tussive emesis (2-6wk)
+/- weight loss (vomiting); worsens with exercise/laughing/smoke/steam/at night
o Convalescent: slow resolution of symptoms (weeks-months)
o Children <6mo: present with apnea and risk of sudden death!
 Labs: CBC (leukocytosis with lymphocyte predominance)
 Dx: clinical presentation +/- nasopharyngeal swab for culture or PCR
 Tx: early Macrolides (azithromycin/clarithromycin/etc) + respiratory isolation
o If given in catarrhal stage  faster resolution; if after catarrhal stage  decrease transmission
o Anti-tussives are NOT recommended
 Post-exposure prophylaxis: even with proper vaccination, pertussis can still spread to close contacts.
Thus, all close contacts should receive Abx prophylaxis with macrolides
o <1mo: azithromycin (5 day course)
 Erythromycin associated with pyloric stenosis; clarithromycin is not studied in neonates
o >1mo: azithromycin (5 days), clarithromycin (7 days), or erythromycin (14 days)
o If any contacts are out of date with their vaccines, they should also receive proper vaccination
 Vaccines:
o DTaP: 5 doses from, early childhood – age 6
o Tdap: one dose every 10yr starting in adolescence & during any pregnancy
o Waning Immunity: neither vaccine confers lifelong immunity (thus the large number of
boosters); classically teens/adults who have not received their Tdap are at risk

3788: Neonatal Tetanus (Clostridia tetani)

 Gram(+) spore-forming cocci classically found in soil & rusty nails
  Presentation: classically occurs in children with unhygienic delivery or poor cord care practices (may
have infection of the cord stump in addition to tetanus)
o Jaw muscle contraction = trismus (lock-jaw)  difficulty feeding
o Facial muscle contraction = risus sardonicus (a creepy looking locked grimace)
o Extensor back muscle contraction = opisthotonos (pronounced arching of the back), clenched
hands & dorsiflexed feet can also occur
o Exaggerated reflexes = easier to stimulate response of muscles
o Diaphragm contraction = respiratory failure (most common cause of death)
 Pathophysiology
o Result of tetanus toxin (tetanospasmin)
o Enters at the NMJ end plate and is retrograde transported to the motor ganglia
o Binds tightly to ganglioside receptors on Renshaw cell interneurons to block glycine/GABA
(inhibitory) via cleaving SNARE proteins needed for their release  dis-inhibition of lower
motor neurons causing tonic muscular contraction (tetany)
 Dx: clinical history/presentation
 Tx: supportive care + wound debridement + Tetanus Ig (passive immunity) + Abx (penicillin)
 Vaccination:
o DTaP: 5 doses from, early childhood – age 6
o Tdap: one dose every 10yr starting in adolescence & during any pregnancy
o Waning Immunity: neither vaccine confers lifelong immunity (thus the large number of
boosters); classically teens/adults who have not received their Tdap are at risk

3423/3675/SkM: Malaria (Plasmodium spp; Anophales mosquito transmission)

 Presentation: cyclical fevers with non-specific symptoms (malaise, headache, N/V, diarrhea, jaundice,
hepatosplenomegaly, myalgia, pallor, anemia, petechiae)
o Cyclic fevers have three stages: cold (chills, shivering; incubation), hot (high fever, with RBC
lysis and spread of parasite); wet (sweating/resolution of fever with re-infection)
 P.vivax/P.ovale: Q3 fever (every 48hr)
 P.Falciparum: irregular fever pattern; banana-shaped on blood smear
 P.malariae: Q4 fever (every 72hr)
o Child complications: cerebral malaria (headache, seizure, coma), hypoglycemia, acidosis
o Adult complications: acute renal failure, pulmonary edema
 Dx: thin/thick peripheral blood smear + Giemsa stain showing Plasmodium
o Typically, travelers who did not adhere to chemo-prophylaxis will contract malaria even with
proper protective gear
 Tx/Prevention:
o Anti-malarial drugs: atorvaquone-proguanil, doxycycline, mefloquine, chloroquine,
hydroxychloroquine
o Insecticides & mosquito nets (stop bugs from biting)
o Sickle-Cell (sickled RBCs disrupt normal reproduction of Plasmodium spp)

3259: When traveling to a malaria endemic region two things must occur: minimize mosquito exposure and
malaria prophylaxis depending on the region. P.falciparum is a bitch and will dictate your prophylaxis.
 Chloroquine resistant P.falciparum (Brazil, Sub-saharan Africa/South, Southeast Asia)
o Atoraquinona-proguanil
o Doxycycline
o Mefloquine (weird dreams and good in pregnancy)
 Choloquine susceptible areas:
 o Chloroquine/hydroxychloroquine 1-2 weeks in advance
o Any agents that work with chloroquine resistant P.falciparum
 Areas without P.falciparum (Mexico/central America/Southern South America/Korea
o Primaquine (will cause crisis in G-6PD deficient pts)

3612/3791: Pinworm (Enterobius Vermicularis)

 Presentation: nocturnal perianal itching (pruritis ani)
o Additional symptoms: Vulvovaginitis (in prepubescent girls), abdominal pain, N/V
o Commonly occurs in school-aged children
 Pathophysiology: parasite worms live in the cecum/appendix, but migrate to the anus to deposit eggs
in the perianal region at night (hence the itching)
o Transmission from contaminated objects/unwashed hands after scratching the butthole
 Dx: “tape test” (application of clear tape to the perianal region at night/in morning  microscopic
visualization of pinworms/eggs)
 Tx: albendazole + household prophylaxis with pyrantel pamoate

4186: Varicella-Zoster virus (Chicken Pox)

 Presentation:
o Complications: pneumonia, cerebellar ataxia, superimposed skin infections
o Airborne transmission thus extremely contagious (90% develop if exposed & not immune)
 Dx:
 Tx:
 Vaccine: VZV vaccine (2 doses at 1yr & 4yr; live attenuated)
 Post-exposure Prophylaxis:
o Child >1yr, not immune, & exposed within last 5 days: simply receive VZV vaccine dose
o Exposed Child <1yr outside neonatal period: reassurance (low risk of dx development)
o Pregnant, immunocompromised, or signs/symptoms 5 days before – 2 days after birth of
child: varicella immunoglobulin (within 10 days of recognition)

3670: Infantile HIV/AIDS

o Presentation: FTT, chronic diarrhea, generalized lymphadenopathy, severe opportunistic infections
(PCP pneumonia, candida, etc.)
o Risks include high maternal viral load (most important) & breastfeeding by infected mother
o Transmission typically during delivery, but may be transplacental
o Labs: CBC (normal absolute lymphocyte count with deficient CD4+ cells)
o The normal lymphocyte count can also differentiate this from immunocompromised syndromes
o Dx: DNA PCR of fetal blood for maternal anti-HIV antibodies or HIV anti-body presence after 18mo
o Tx: HAART
o Prevention: maternal screening with anti-retroviral therapy for mom & immediately for baby

3969: Scarlet Fever

 Presentation: fever, chills, sandpaper rash (punctate/diffuse over neck/trunk; desquamates into fine
scales) with Pastia’s lines (petechiae localized to skin creases), strawberry tongue, circumoral pallor
(pale perioral region with red cheeks), & bacterial pharyngitis symptoms (sore throat, dysphagia,
odynophagia, pharyngeal/tonsillar erythema, grey-white tonsillar exudates)
o Can follow any Strep. pyogenes infection (pharyngitis or wound/burn/skin infection)
o Incubation time of 1 – 7 days & most often occurs in winter/spring
 Micro: Caused by GAS (Strep. pyogenes) that have acquired erythrogenic toxin
  Dx: clinical presentation + rapid response to penicillin
o Must be differentiated from Kawasaki’s disease, which often features bilateral
conjunctival injection, peripheral extremity changes, or no response to penicillin
 Tx: Penicillin V (preferred)
o If allergic to penicillin: Clindamycin, erythromycin, or 1st gen cephalosporins

2712/3443/3874/4836: Acute Rheumatic Fever

 Presentation: symptoms of the JONES criteria with Hx of Strep throat
o Most common in girls age 5-15yr
o Typically occurs a few weeks after a GAS pharyngitis (strep throat)
o Mitral stenosis/regurgitation: a late complication presenting as Hoarseness/cough
(compression of recurrent laryngeal), elevation of left mainstem bronchus on CXR, and atrial
fibrillation (abnormal conduction through stretch fibers)
o Aortic stenosis and left heart failure/pulmonary HTN may also occur more rarely
 Pathophysiology: Antibodies formed from infection cross-react with host antigens (notably in the
valves of the heart) due to molecular mimicry. ‘Incubation time’ is for antibodies titers to build
 Labs: ASO titer, Anti-DNase titer, Anti-hyaluronidase titer
 Dx:
o JONES major criteria
 J – joint pain from migratory polyarthritis
 ♥ – pancarditis initially with mitral/aortic valve damage over years
 N – nodules in the skin (often firm, but painless)
 E – erythema marginatum (rash with central clearing a distinct thin red border)
 S – Syndenham’s chorea (“St. Vitus’s Dance”; basal ganglia damage; chorea/emotionally
labile may be part of the picture!)
 An ASO titer being high can also be helpful to confirm diagnosis
o JONES minor criteria
 Fever, arthralgia, elevated ESR/CRP, or prolonged PR interval
 Tx: prophylactic IM benzathine penicillin G (eliminate S.pyogenes pharyngitis to limit antibody
formation) every 4 weeks for a length of time depending on situation:
o Rheumatic fever without endocarditis  5yr or till age 21 (whichever is longer)
o Rheumatic fever + endocarditis, but no residual heart/valvular disease on echocardiography 
10yr or till age 21 (whichever is longer)
o Rheumatic fever + endocarditis + persistent heart or valve damage  10yr or till age 40
(whichever is longer)
 Prevention: treat all cases of Strep Throat with Penicillin V

2241: Post-Streptococcal Glomerulonephritis

 Autoimmune disease in response to a GAS throat/skin infection occurring 10-20 days post-infection.
Classically happens in kids and young adults; rare before age 2yr
o Rarely may be caused by HIV or Hep B
 Presentation: Fever, rash, arthralgia, periorbital edema, hypertension, ‘tea-colored urine’, Hx sore
throat or impetigo
o Urine: oliguria, proteinuria, hematuria, sterile pyuria, eosinophiluria, WBC casts
o Blood: eosinophilia, low serum C3 compliment levels
o Biopsy: sub-epithelial humps due to complement deposition
 Micro: “nephrtiogenic strains” of GAS (carry M-protein)
 Dx: clinical presentation with elevated ASO titer or anti-DNase B (ADB) antibodies +/- renal biopsy
 o Light microscopy (H&E) – glomeruli enlarged with endocapillary proliferation. Also
hypercellular with neutrophils
o Immunofluorescence – “starry sky” or “lumpy bumpy” granular appearance from IgG, IgM, and
C3 desposition in GBM and mesangium
o Electron microscopy – sub-epithelial “humps” originating from conglomeration of
subendothelial complexes. Will progress into the urinary space and dissipate
 Tx: supportive care, should resolve on its own
o Prognosis good in children but very bad in adults often leading to renal failure

3742: Toxic Shock Syndrome

 Bacterial infection (S.aureus most common; GAS is less common) with Toxic-Shock Toxin-1 (TSST-1), a
super-antigen that results in massive T-cell activation/cytokine release, resulting in loss of intravascular
fluids to the extravascular spaces and shock!
 Presentation: rapid development of high fever, Hypotension (<90 systolic), diffuse red/edematous rash
(looks like sunburn), skin desquamation of palms/soles, multisystem failure
o Classically (50%) associated with a tampon left in post-menstruation, typically arising 2-3 days
after the last menstrual period
o Non-menstrual infections can also cause it (post-surgery, sinutitis, etc)
 Dx: clinical syndrome with history
 Tx: supportive therapy for shock, removal of foreign materials causing infection, anti-staph (penicillin +
vancomycin) are all part of treatment

2431/2782/3077/SkM: Measles (“Rubeola”)

 Presentation: prodrome (1-3wk post exposure)  exantherm  severe dx
o Prodrome: fever, cough, coryza (rhinitis), conjunctivitis, Koplik spots (irregular red spots on
buccal mucosa with white-blue centers)
o Viral Exantherm: blanching red-brown macropapular cephalocaudal spread; spares palms/soles
o Severe Dx: pneumonia (most common cause of death), subacute sclerosing panencephalitis,
blindness, gastroenteritis
 Dx: clinical presentation + anti-measles antibody titers (IgG/IgM x4 rise)
 Tx: supportive care + Vitamin A (promotes immune response; often used in hospitalized pts, infants,
pregnant women, elderly)
 Vaccine: MMR vaccine (1yr & 5yr doses)
 Prevention: airborne transmission (most contagious during prodrome) means suspected cases should
be under airborne precautions (negative pressure room + N95 facemask for healthcare workers)

3009: Mumps
 Presentation: fever/malaise  parotitis (painful swelling at angle of the jaw), orchitis (painful swelling
of testicles post-puberty  infertility), & aseptic meningitis (headache, fever, nuchal rigidity)
 Dx: clinical presentation +/- urine culture for Mumps
 Tx: supportive care
 Vaccine: MMR vaccine (1yr & 5yr doses)

3663/SkM: Rubella (“German Measles”)

 Presentation: may present or could be asymptomatic in children/adults
o Congenital: FTT, sensoneurial hearing loss, cataracts, patent ductus arteriosus (continuous
machine-like murmur), microcephaly, blueberry muffin rash, bone lesions, thrombyctopenia
o Children: fever, occipital/auricular lymphadenopathy, cephalocaudal macropapular rash
 o Adults: fever, cephalocaudal spread of macropapular rash, arthralgias/arthritis
 Dx: serologic evidence via neonatal IgM titers
 Tx: supportive care
 Vaccine: MMR vaccine (1yr & 5yr doses)

3256/4852: Congenital Syphilis

 Presentation:
o Symptoms occur within 2 years of age; Infection occurs trans-placentally after 1st trimester
(Prevented with Tx of mom in 1st trimester)
o Early symptoms: “Snuffles” at birth (runny nose), Bullous rash with desquamation, Snail track
lesions/condylomata lata of mucous membranes at birth, Hepato-splenomegaly
o Late symptoms: Neurosyphilis (similar to adult symptoms with CNVIII deafness), Eye infections
(corneal inflammation causing ‘gun barrel sight’) & Bone/teeth maldevelopment:
 Saddle nose – cartilage destruction of palate/nasal septum
 Saber shins – inflammation of the tibia leading to bowing
 Frontal bossing – inflammation of skull causing protrusion
 Hutchinson’s Teeth – widely spaced teeth with a central notch
 Mulberry molars – molars with too many cusps
 Dx: Clinical presentation + confirmatory testing
o Non-treponemal serologic tests (non-specific tests)
 Rapid Plasma Reagent (RPR) test – carbon particles coated with cardiolipin mixed with
patients serum to measure anti-cardiolipin titers in patient serum via agglutiniation
 Venereal Disease Research Laboratory (VDRL) test – similar to RPR but uses cardiolipin
bound to several different particles to help with visualization
 Cheap, sensitive, but can have false positives
 Great test to measure decreasing titers to monitor treatment
o Treponemal Tests (specific tests)
 Fluorescent Treponemal Antigen-Absorption (FTA-ABS) test – non-pathogenic
Treponema fixed to microscopic slide is mixed with patient serum to removed cross-
reacting antibodies to that non-pathogenic strain. You then add the serum to another
slide with killed Treponema Pallidum, then add fluorescent dye-tagged anti-human Ig.
Fluorescent visualization is definitive.
o Indirect dark-field microscopy of a sample from lesions can be done to visualize the tiny, tiny
spirochetes before antibodies are formed. Visualization via refracted light is definitive.
o Culture/gram stain is not useful
 Tx (any stage)
o First line: IM penicillin G
o If allergic to penicillin: oral doxycycline or ceftriaxone (3o only)
o If pregnant and sensitive to penicillin: desensitize  IM penicillin G in 1st trimester

2906: Vertical Transmission of Hepatitis B

 Any pregnant mom with HepB can pass it on to their child (typically during birth, but may occur trans-
placentally if infection occurs during 3rd trimester)
o Mom is HBeAg (-) – 20% chance of transmission overall
o Mom is HBeAg (+) – 95% chance transmission overall
 Infantile Hepatitis B results in chronic hepatitis in 90% of cases, thus all children of mothers with HepB
should receive HBIG (HepB Ig passive immunization) followed by HepB vaccine at birth
[click through all questions and snag the random/un-covered TORCHES infections]

Pregnancy/Childbirth/Puerperium
2485: Neonatal Clavicular Fracture
 Risk Factors: fetal macrosomia (>4000g, maternal diabetes, post-term pregnancy), instrumental
delivery (vacuum or forceps), shoulder dystocia
 Presentation: crying/pain with passive motion of extremity, crepitus over clavicle, asymmetric Moro
(weakness on affected side), pseudoparalysis (refusal to move from pain)
o Often child holds affected limb with opposite hand & tilts head away from injury
o Rarely may injure surrounding nerves or vessels
 Pathophysiology: difficulty in birth often places great force on the fetal shoulder, sometimes causing
fracture/displacement
 Imaging: X-ray showing fracture
 Dx: presentation + imaging
 Tx: reassurance, gentle handling, analgesia, long-sleeve shirt with arm pinned to chest/elbow at 90o
o Fracture typically heals on its own in 7-10 days without complication

4174: Immediate Evaluation and Care of the Neonate

 APGAR score – appearance, pulse, grimace, activity, respiration – ensures good respiration/circulation
 Clear airway secretions – ensures patent airway
 Dry/warm baby – thermoregulatory center in brain is underdeveloped; thus drying/warming/swaddle
are essential components of immediate care
 Erythromycin eye ointment + Vit. K shot – stop gonococcal conjunctivitis/neonatal hemorrhage

8820: APGAR Scoring & Respiratory Considerations

 APGAR score at 1 minute and 5 minutes
o Appearance – totally blue (0), blue at extremities (1), total pink (2)
o Pulse (palpate umbilical cord) – none (0), <100bpm (1), >100bpm (2)
o Grimace – none (0), suction/aggressive stimulation (1), cry on stimulation (2)
o Activity – none (0), some flexion (1), flexion that resists extension (2)
o Respiration - none (0), weak/irregular/gasping (1), strong cry (2)
 When respiratory interventions are needed
o Risk factors: young mom, Hx substance abuse, Hx diabetes mellitus/maternal HTN
o If APGAR is <7 (esp. if pulse & respiration scores are poor) you must resuscitate!
o Cyanosis of face or central body may indicate respiratory/cardiac problems
 Interventions
o APGAR <7 – pulse oximetry + positive pressure ventilation (bag-and-mask)
o If HR <60 – chest compressions required
o Failure to improve with pulse ox/pos. pressure – intubation

4889: Small for Gestational Age (SGA)

 Risk Factors
o Maternal: preeclampsia/eclampsia, malnutrition, placental insufficiency, multiparty, drug use
o Fetal: regular variant or chromosomal abnormalities, congenital infection, in-born error of
metabolism causing IUGR
 Presentation: birth weight <10th percentile
o Symmetric IUGR – all components (head, weight, length) are similarly decreased
o Asymmetric IUGR – weight affected > head/length
  Children with SGA are at increased risk for hypoxia/asphyxia/meconium aspiration (poorly
ventilated/compliant airways), hypothermia (low brown fat & overall fat content), hypoglycemia
(decreased glycogen stores), hypocalcemia (poor Ca placental transfer), & polycythemia (high EPO
from hypoxia!)
 Children with Very Low Birth Weight (<2600g) may have hyperglycemia (immature pancreas leading to
poor insulin production)

4223: Effects of Maternal Hyperglycemia (Diabetes) on the Neonate

 Pathophys: maternal hyperglycemia  high diffusion of glucose through placenta  fetal
hyperglycemia  fetal hyperinsulinemia (anabolic hormone)  abnormal/excessive growth
 1st trimester effects: congenital heart disease, NTDs, small left colon syndrome, craniofacial
malformations, spontaneous abortion
 2nd/3rd trimester effects
o Polycythemia – due to increased metabolic demand from anabolic effects, thus EPO
production; neonate appears plethoric upon birth
o Organomegaly – anabolic effects of insulin
o Neonatal hypoglycemia – continued hyperinsulinemia after exodus from high sugar womb
o Traumatic Birth – macrosomia from anabolic effect can lead to excessive stress on the fetus
during birth  shoulder dystocia/clavicular fracture/asphyxia/hypoxic encephalopathy

Neurology
2280/2680/3514/4841/NN: Seizures
 New onset seizures typically occur in children and elderly folks
o ALWAYS get head imaging on a new onset seizure to rule out an organic cause
o EEG may be useful to catch ongoing seizure or identify a seizure disorder through EEG waves
 Epilepsy: a tendency to have recurrent, unprovoked seizures
o Lennox Gastaut Syndrome: childhood seizures + retardation (1-2Hz spike-and-wave);
Tx: Valproate; lamotrigine; felbamate; rufinamide
o Benign rolandic epilepsy: childhood seizures often happening at night (centro-temporal spikes);
Tx: Carbamazepine (may not be treated)
o Absence epilepsy: childhood/teen absence seizures (“dropping the juice at breakfast”);
triggered by hyperventilation (3Hz spike-n-wave); Tx: Ethosuximide; valproate
o Juvenile myoclonic epilepsy: teen seizures often happening in the morning (4-6Hz spike-n-
wave); Tx: Valproate; lamotrigine; levetiracetam
 Simple Partial (Focal): seizure confined to one part of the brain; pt typically stays conscious but may
lose consciousness if both sides become involved
o Presentation:
 Motor (motor cortex): stiffening/jerking of a specific body part; Jacksonian March
(spread from fingertips to body as seizure activity moves along the motor homunculus
to involve a general side of the body)
 Sensory: visual (occipital), tactile (parietal), gustatory/olfactory (temporal)
 Autonomic: sweating/epigastric “rising” feeling
 Psychic (temporal lobe): déjà vu/jamais vu or feelings of fear/anxiety/excitement
o EEG may show specific, discreet changes
 Complex Partial: seizure is confined to one hemisphere and pt loses consciousness
o Arise in parietal or temporal lobes
o Automatisms (repetitive, purposeless motor movements) are a common feature
 o Pt will not respond properly to their environment due to impaired consciousness
 Generalized Tonic-clonic (Grand Mal):
o Risk factors: fever, hypoglycemia, sleep deprivation
o Presentation: typically occurs in four major phases +/- tongue biting, peri-oral cyanosis, or
urinary incontinence. Will always have eyes open during event.
 Aura: sensory stimulation (smells/visions); may or may not occur
 Tonic phase: whole body tenses up, sometimes with a “epipeltic cry” from pharynx
muscle contraction causing involuntary expiration
 Clonic phase: rhythmic jerking movements for 1-2 minutes, petering out after
 Post-ictal phase: confusion/somnolence following clonic phase
 Absence (Petit Mal): generalized seizure featuring unresponsiveness
o Presentation: Consists of staring period with immediate recovery; these spells are often not
noticed by the patient, but they are not aware of what’s going on around them during the spell
 May be thought to be learning disability or look like daydreaming on initial presentation
 Typically occurs in children
 Hyperventillation is a common trigger
 3Hz generalized spike-and-wave on EEG is characteristic
o Tx: ethosuximide
 Febrile: generalized seizures occurring within context of infection
o Risk Factors: fever, viral/bacterial infection, recent immunization (DTaP or MMR), FamHx
o Presentation: seizure (any type) with fever (100.4), no prior seizures, no CNS infection or other
organic cause for a seizure (metabolic disorder, seizure disorder, etc.)
 Only affect children 6 months – 5 years of age
 No major risk for epilepsy in the future if you get these
o Tx: reassurance/education; abortive therapy needed if lasting >5min
o Prognosis: no effect on intelligence/development; 30% recurrence & <5% epilepsy
 Psychogenic Non-epileptic Pseudoseizure: seizure that doe not follow any recognized EEG pattern,
often seen in pts with psychiatric history (often abuse)
o Typical pt is a young person under a lot of stress; thought to be a psychogenic defense
mechanism for extreme stress or trauma. Can be quite convincing.
o Bilateral limb movements, no confusion/loss of consciousness and no changes to the EEG
 Status Epilepticus – While most seizure activity is acute, some may take a prolonged course giving
significant risks to the patient cause in seizure. It’s called status epilepticus. Here’s the algorithm to
approach this event:
o Give normal first aid and protect the patient
o If pt continues to seize for more than a few minutes assess ABCs, check glucose levels, and
establish IV access
o Send blood lab studies; give 100mg thiamine IV, followed by 50% dextrose (may be B1 def.)
o Administer Lorazepam 0.1 mg/kg IV – benzo to chill them out
o [if seizure persists] Phenytoin/fosphenytoin 20mg/kg IV – anti-epileptics
o [if seizure persists] Intubate and give phenobarbital 20mg/kg IV – old school anti-epileptics
o [if seizure persists] Induce coma (barbiturates, midazolam, or propofol) and begin continuous
EEG monitoring

2680: Cardiogenic Syncope

 Overview of Syncope: basically passing out with no warning/prodrome/changes in posture due to poor
cardiac output; the resulting cerebral hypoxia results in pre-syncope symptoms, then full syncope if
hypoxia is persistent
 o Heart rate <35 and >150 beat/min don’t give enough cardiac output for consciousness
o Drug induced hypovolemia/peripheral vasodilation are classic causes of syncope
o Exertional syncope may be the result of outflow obstruction (aortic stenosis, etc.)
o Cough/micturition syncope (natural Valsalva maneuvers) may decrease venous return to heart
o Vasovagal syncope is an abnormal reflex with intense vagus nerve driven vasodilation resulting
in abrupt blood pressure drop and syncope. Typically pain/sight of blood/etc. trigger it
o Orthostatic syncope: loss of consciousness with changes in position (standing up from laying)
 Young pts: usually from a prolonged posture (standing at military attention)
 Old pts: usually standing up from laying down (pooling in the lower limbs) and often the
result of poly-pharmacy (b-blocker + diuretic + nitrate = pass out)
o Sick sinus syndrome: slow heart rate due to sinus node slowed function
 Presentation:
o Abrupt loss of consciousness with near immediate return to normal function. Many etiologies
o Pt may pee themselves (if they have a full bladder) but never poop themselves
 Can be confused for seizure
 Usually peeing + pooping themselves is classic of seizure
o Any form of convulsion, Post-ictal confusion, or Tongue biting/spiting are classic of seizure
 Dx: thorough history with investigation to possible precipitating factors
o Cardiogenic: consider ECG/echocardiography testing for arrhythmias/abnormal heart structures
o If orthostatic: consider positional testing or tilt-table testing to document orthostatic event
 Tx: basically treat whatever causes the disease; often volume repletion, anti-arrythmatics, and drug
review are mainstays of treatment depending on the cause

3657/3666: Neonatal Intraventricular Hemorrhage

 Presentation: acute onset lethargy/hypotonia, cyanosis/pallor, bradycardia, hypotension, high-pitched
cry, apnea, rapidly increasing head circumference, bulging fontanelles, focal neurologic deficits, seizure
o Complications: occur in higher grade bleeds (grade 3 or 4)
 Communicating (non-obstructive) hydrocephalus (blood irritation of arachnoid villi
causes failure of normal CSF flow)
 Neurodevelopmental disability (cerebral palsy)
o High risk in premature neonates born <30wk gestation or <1500g (3.3lbs)
o 25-50% are asymptomatic and will be caught on screening imaging
 Pathophys: permaturity results in increased fragility of the subependymal germinal matrix & immature
autoregulation of cerebral blood flow  increased chance for break/bleed
 Labs: CBC (decreased hematocrit), CMP (metabolic acidosis)
 Imaging: cranial ultrasound (bilateral ventriculomegaly, opaque/blood filed ventricles)
o Screening: serial cranial ultrasounds of at-risk premature children (25-50% asymptomatic!)
 Dx: imaging +/- presentation
 Tx: supportive care
 Prevention:
o All babies  prophylactic Vit.K shot to prevent coagulopathy of prematurity
o Premature babies  corticosteroids to help prevent premature labor in mom

4248/4865: Brain Abscess

 Presentation: preceding otitis media/mastoiditis, morning vomiting, nighttime headache, seizure,
fever, focal neurologic deficits (CN III/CN VI), papilledema
  Pathophys: preceding infection can directly spread into the brain causing abscess. Increased ICP gets
worse at night when laying head down to sleep (headaches)  stimulation of area postrema (morning
vomiting); growing abscess results in worsening ICP resulting in nerve deficits & papilledema
 Anatomy: location of preceding infection will likely dictate location of brain abscess
o Otitis media/mastoiditis – temporal lobe or cerebellum from direct spread
o Frontal/Ethmoid sinusitis – frontal lobe from direct spread
o Dental infection – frontal lobe from direct spread
o Bacteremia/Infective Heart Disease – multiple abscesses along the grey-white junction (MCA
distribution) via hematoengous spread
 Labs: CBC (leukocytosis)
 Imaging: CT with contrast or MRI (hypodense lesion with ring-enhancement & surrounding edema)
 Dx: presentation + imaging
 Tx: IV broad spectrum ABx +/- needle aspiration/surgical excision/removal of infected skull
(mastoiditis, otitis media, etc.)
o Corticosteroids may be used if significant inflammation is present (risk of brainstem herniation
outweighs risk of suppressing Abx therapy)
o LP is contraindicated if brain lesion present (concern of immediate brainstem herniation) unless
fontanelles are still open (pressure is equalized)

4871: Non-Communicating Hydrocephalus

 Presentation: poor feeding, irritability, decreased activity, vomiting, rapidly increasing head
circumference, tense/bulging fontanelles, prominent scalp veins, wide-spaced cranial sutures
 Imaging:
o Ultrasound – can be used for quick assessment, but only in children <6mo old
o CT – if acutely asymptomatic, these are faster/more available
o Sedated MRI – if stable, will give the best images
 Dx: presentation + imaging
 Tx: ventricular shunting

2472: Neonatal Abnormalities of the Skull

 Cephalohematoma (subperiosteal hemorrhage) – scalp swelling limited to the surface of one cranial
bone following birth; no skin discoloration/pulsations; hyperbilirubinemia may be present and require
phototherapy; spontaneous resolution in approx. 2-3wk
 Caput succedaneum – diffuse, eccymotic swelling of the scalp (crosses multiple skull bones); often
occurs in children with vertex delivery or vacuum-assisted delivery.
 Cranial meningocele – scalp lesion with spontaneous pulsations, increased pressure with crying, and X-
ray evidence of bony malformation
 Depressed fractures – thinning of calvarium in spots as a complication of foreceps-assisted delivery or
fetal head compression. Depress and pop with a ‘ping-pong ball’ like quality

3671: Migraine Headache in Children

 Presentation: bifrontal headache, nausea/vomiting/photophobia, visual aura
o Migraines are the most common type of headache in children <20yr
o No imaging is required if good clinical evidence of headache is present
o Occipital headaches, focal neurologic deficits, numbness, history of increasing headache
frequency, or headaches awakening pt from sleep  imaging with CT/MRI to rule out lesion
 Dx: clinical presentation, no imaging required
 Tx: sensory deprivation (lying in cool/dark room with cool cloth on forehead + NSAID
 o Triptans (oral, intranasal, or injectable) can all be used if the above fail to work

3658: Pediatric CNS Tumors

 Presentation by Location
o Supratentorial – increased ICP (awakening from headache, morning vomiting, papilledema,
macrocephaly), seizures, weakness, sensory changes
o Posterior fossa – increased ICP, cerebellar dysfunction (ataxia, clumsiness)
o Brainstem – ataxia, clumsiness, cranial nerve palsies
o Spinal Cord – back pain, weakness, abnormal gait
 Presentation by Type
o Astrocytoma (low grade) – the most common primary CNS tumor in children
o Glioblastoma (astrocytoma, high grade) – arise in cerebral hemispheres, rare in children
o Craniophayngioma – cystic structure with calcification in the sella turcica on imaging causing
visual defects (compression of optic tracts) & hormonal deficiency (compression of pituitary)
o Ependymoma – glial cell tumors arising in the ependymal cells lining brain ventricles; classicaly
arise in the 4th ventricle causing obstructive hydrocephalus
o Medulloblastoma – arise in cerebellar vermis causing cerebellar dysfunction (Opsoclonus-
myoclonus ataxia = “dancing eyes and feet”; rapid vertical/horizontal/rotational nystagmus
with marked ataxia +/- other neurologic impairments)
o Neuroblastoma – PNS tumors sympathetic ganglia in abdomen; may metastasize to CNS

3665: Pinealoma
 Presentation:
o Parinaud syndrome: limited upward gaze/downward gaze preference, upper eyelid retraction
(Collier sign; can see upper sclera but not lower), light-near dissociation (pupils accommodate
but don’t react to light)
o Obstructive hydrocephalus: persistent headache, vomiting, papilledema, ataxia
o “Trilateral retinoblastoma”: bilateral retinoblastoma + pinealoma
 Pathophysiology: mass effect causing pressure on pretectal region near CNIII/superior colliculi (eye
problems) & blockage of aqueduct of Sylvius (outflow obstruction causing hydrocephalus)
 Imaging: CT head/MRI brain showing mass in pineal region
 Dx: presentation + imaging
 Tx: ???

4872: Breath Holding Spells

 Presentation: episode of apnea caused by frustration/anger/pain in children 6mo – 5yr of age
o Cyanotic: provocation  crying/breath holding with forced expiration  apnea, falling limp, &
passing out  rapid return to baseline
o Pallid: minor trauma/provocation  passing out  breath-holding, pallor, diaphoresis for
<1min  return to consciousness with confusion and sleepiness for a few minutes
o Child may develop vasovagal syncope later in life
 Pathophys: intense vasovagal response during provocative event
 Labs: CBC (may show iron deficiency anemia)
 Dx: presentation + normal physical exam
 Tx: reassurance of parents that this is not serious and does not impact development
o Fe2+ supplementation if iron deficient
3907: Sudden Infant Death Syndrome (SIDS)
 Risk factors
o Mom: smoking during/after pregnancy, age <20yr, inconsistent prenatal care
o Baby: prone/side sleeping position, soft sleeping surface, loose bedding, bed-sharing,
prematurity, sibling that had SIDS
 Presentation: sudden unexpected death of child that cannot be explained with post-mortem autopsy
o #1 cause of death in children between 1mo – 1yr
 Prevention
o Mom: smoking cessation, routine prenatal care
o Baby: supine sleeping position, firm bed surface, room sharing, & pacifier use
o Home apnea monitors are NOT recommended if risk factors present (no efficacy!)

3985: Friedrich’s Ataxia (Spinocerebellar Ataxia)

 Presentation:
o Neuro: gait ataxia, frequent falling, dysarthria
o Cardio: concentric hypertrophic cardiomyopathy
o Endocrine: diabetes mellitus
o MSK: scoliosis & ‘hammer toes’
 Pathophysiology: autosomal recessive disorder causing progressive degeneration of spinocerebellar
tracts, posterior columns, & pyramidal tract + other deformities
 Prognosis: death within 20yr of onset from cardiomyopathy (90%) or rarely diabetes (10%)

3661/3669: Muscular Dystrophies (Duchenne, Becker, Myotonic)

 Duchenne (DMD)
o Presentation: onset at age 2-3yr; progressive weakness affecting legs first (Gower maneuver,
calf pseudohypertrophy with scar/fat replacement)
 Scoliosis/cardiomyopathy/mild cognitive impairment associated
 Wheelchair bound by adolescence & death by age 30 (heart or lung failure)
o Pathophys: deletion disrupting reading frame of dystrophin on Xp21 (X-linked recessive)
 Dystrophin is an anchoring protein for actin/other skeletal proteins; lack of this causes
weakness/rupture of the myocyte plasma membrane  injury/degeneration of muscle
 Damage = lymphocyte invasion  fiberous tissue/fat replacement
 Large deletion causes a more severe lack of structural integrity
o Labs: Creatinine Kinase assay (very high), serum aldolase level (high), EMG (weak/polyphasic
muscle impulses with normal nerve impulses), muscle biopsy (dystrophic pattern) totally
absent dystrophin levels (immunohistochemistery, Western blot, or genetic testing)
o Dx: presentation + genetic testing showing Dystrophin Gene deletion on Xp21
o Tx: oral steroids can help improve function transiently
 Becker (BMD)
o Presentation: onset at age 5-15yr; same as DMD, but less severe
 Cardiomyopathy associated; death by age 50 from heart failure
 Wheelchair bound in 20s/30s
o Pathophys: deletion preserving reading frame of dystrophin on Xp21 (X-linked recessive)
 Same as DMD, but smaller deletion results in less severe phenotype
o Labs: same as DMD but with decreased amount of dystrophin on IHC staining
o Dx: presentation + genetic resting showing Dystrophin Gene deletion on Xp21
o Tx: oral steroids can help improve function transiently
 Myotonic (Steinert Disease)
 o Presentation: onset at age 12-30yr, but possibly earlier in severe disease
 Fetal: polyhyraminos (poor swallowing), decreased fetal movements
 Neonatal: hypotonia/areflexia, feeding difficulty & respiratory problems
 Child/Adult: facial weakness/dysphagia (atrophy of masseter/temporalis), hand grip
myotonia (cannot release grip on handshake), weakness of extremities, arrhythmias,
testicular atrophy/infertility, balding, cataracts, mental retardation, insulin resistance
o Pathphys: CTG trinucleotide expansion on DMPK gene (Chrom 19 13.3; Autosomal dominant;
typically passed down by mother & subject to anticipation)
 Abnormal protein results in delayed muscle reaction & weakness
 Should be suspected in ANY child with hypotonia; mother should also be examined
o Labs: FISH study looking for specific mutation
o Dx: suspect in all children with hypotonia; presentation + DNA testing
o Tx: supportive treatment; high infant mortality due to respiratory failure

2445: Niemann Pick Disease

 Presentation: loss of motor milestones around ages 2-6mo, hypotonia, feeding trouble, protuberant
abdomen, hepatosplenomegaly, hypo/areflexia, & cherry-red macula
o 3 types (A,B,C) with type A being the severe/fatal type
o Increased incidence in Ashkenazi Jews
o Universally fatal by age 3yr
 Pathophys: sphingomyelinase deficiency (autosomal recessive)
 Dx/Tx: clinical presentation/supportive care; must differentiate from Tay-Sachs

2445: Tay-Sachs Disease

 Presentation: loss of motor milestones around ages 2-6mo, hypotonia, feeding trouble, protuberant
abdomen, hyperreflexia, hyperacusis & cherry-red macula
o Increased incidence in Ashkenazi Jews
o Universally fatal by age 4yr
 Pathophys: B-hexosaminidiase A deficiency (autosomal recessive)
 Dx/Tx: clinical presentation/supportive care; must differentiate from Niemann-Pick

3686/3687: Marfan syndrome

 Presentation:
o Marfanoid body habitus (tall/slender build, increased arm:height ratio, decreased upper:lower
segment ratio, arachnodactyly (long fingers, “thumb sign”), joint laxity, pectus excavatum,
scoliosis/kyphosis)
o Eye: Upward lens subluxation & retinal detachment
o Cardio: aortic root dilation, aortic regurgitation, increased risk of aortic dissection (esp. with
HTN or trauma), mitral valve prolapse, increased risk endocarditis
o Neuro: Normal IQ
 Pathophys: autosomal dominant mutation of fibrillin-1 gene (chom. 15)
 Labs: rule out homocytinuria
 Dx: presentation + FISH study for mutation + negative homocystinuria
 Lookalikes:
o Congenital Contractural Arachnodactyly – fibrillin-2 mutation; basically Marfan’s without the
heart problems & eye problems + contractures of large joints
3687: Homocysteinuria
 Presentation:
o Marfanoid body habitus (tall/slender build, increased arm:height ratio, decreased upper:lower
segment ratio, joint hyperlaxity/skin elasticity, pectus excavatum, scoliosis) – no arachnodactyly
o Eye: Downward lens subluxation, blue eyes
o Cardio: aortic & mitral regurgitation (no aortic dilatation)
o Heme: hypercoagulability (DVT, stroke, MI risk all increased), megaloblastic anemia
o Skin: fair complexion
o Neuro: decreased IQ
 Pathophys: autosomal recessive mutation of cystathioneine synthase
 Labs: urine/plasma methionine (increased), urinary cyanide nitroprusside test (+)
 Dx: presentation + labs
 Tx: methionine-restricted diet, dual anti-platelet/anti-coagulation (lower risk of clot), and Vit B6/B12
supplementation (lower homocysteine levels)

3912: Kallmann Syndrome

 Presentation: hypogonadotropic hypogonadism (no puberty, underdeveloped genitals, short stature, &
secondary sexual characteristics), anosmia (no sense of smell)
 Pathophysiology: x-linked recessive disorder resulting in failure of migration of GnRH neurons &
olfactory neurons from the olfactory placode  hypothalamus/olfactory bulb
 Labs: low FSH/LH levels
 Dx: presentation

2763: Sturge-Weber Syndrome

 Presentation: generalized seizures at early age, mental retardation, & nevus flammeus (“port wine
stain”) of trigeminal nerve distribution (congenital unilateral cavernous hemangioma)
o Complications: Hemianopia, hemiparesis, hemisensory disturbance, & ipsilateral glaucoma
 Imaging: X-ray head >2yr of age shows gyriform intracranial calcifications with ‘tram-line appearance’
 Dx: clinical presentation
 Tx: control of seizure, reduce intraocular pressure, argon laser therapy for skin lesions

2763: Tuberous-Sclerosis
 Presentation:
o Skin: ash-leaf spots (hypopigmented macules, illuminate with Wood’s lamp), adenoma
sebaceum (angiofibromas on nose/face), shagreen patches (thickened ‘orange-peel’ patches)
o CNS: infantile spasms (“West Syndrome”), intracranial calcifications, mental retardation
o Systemic: renal cysts, cardiac rhabdomyoma (#1 neonatal cardiac tumor), retinal
astrocytoma/hamartoma
 Pathophys: mutation of TSC1/TSC2 genes
 Dx: presentation
 Tx: (If West Syndrome  vigabatrin for infantile spasm Tx)

3871: McCune-Albright Syndrome

 Presentation: precocious puberty, large/irregularly bordered pigmented macules (“Coast of Maine”
spots), multiple fractures (fibrous dysplasia of bones)
o +/- Endocrine dysfunction (hyperthyroidism, pituitary adenoma, & adrenal hypercortisolism)
 Pathophysiology: sporadic mutation in G-protein cAMP causing constituent activation of FSH/LH
receptors on the gonads & in other areas
  Dx: presentation

3550: Neurofibromatosis
 Type 1 (von Recklinghausen disease)
o Presentation:
 Skin: café-au-lait spots (hyperpigmented macules), axillary/inguinal freckles, multiple
neurofibromas, Lisch nodules (Hamartoma of the iris)
 CNS: optic glioma, intracranial calcifications, neurofibromas, mental retardation
 MSK: osseus lesions, scoliosis
o Pathophys: mutation of NF-1 (tumor suppressor gene encoding neurofibromin) on Chrom 17
o Imaging: MRI brain if signs of intracranial lesion (chronic headache, early morning vomiting,
vision changes, etc.)
o Dx: clinical presentation
 Type 2 (central neurofibromatosis)
o Presentation: hearing loss + bilateral acoustic neuromas (Schwannoma) +/- skin stuff of NF-1
o Pathophys: mutation of NF-2 (tumor suppressor gene encoding merlin) on Chrom 22
o Labs: audiometry +/- MRI brain
o Dx: clinical presentation

2444: Fetal Alcohol Syndrome

 Presentation:
o Facial dysmorphisms: microcephaly, small palpebral fissures, long/smooth philtrum (lack of
vertical grooves on upper lip), thin vermillion border
o Neuro: Microcephaly, mental retardation, ADHD, social withdrawal, delay in motor/language
milestones
o Cardio: ventricular septal defect (most common)
 Pathophys: teratogenic damage from EtOH during fetal development
o The most common cause of mental retardation in the world
 Dx: clinical presentation
 Tx: aggressive speech/physical/occupational therapy

2444/2452/2467/4840: Trisomy 21 (Down Syndrome)

 Pre-natal Signs:
o 1st trimester: Associated with elevated hCG and decreased PAPP-A
 Combined with ultrasonographic imaging for nuchal transparency (fluid collection at the
fetal neck; an early sign of trisomy 21)
 When noting these markers, genetic council, 2nd trimester CVS/amnio are offered
o 2nd trimester:
 Quad screen – Decreased: AFP, unconjugated estriol & Increased: B-hCG, Inhibin A)
 Ultrasound – nuchal fold, ventriculomegaly, echogenic bowel, shortened
femur/humerus, absent nasal bone, pyelectasis
 Presentation:
o Craniofacial – epicanthal folds, upslanting palpebral fissures, Brushfield spots (speckling of
irises), low-set small ears, flat facial profile, short neck with skin folds, furrowed tongue
o Extremities – clinodactyly of 5th digit (hypoplasia/distal incurving), single transverse palmar
creases, sandal toe deformity (widened space between 1st/2nd toes)
o Spine – atlanto-axial instability +/- subluxation (unstable articulation between atlas/axis) 
spinal compression (torticollis, behavioral changes, urinary incontinence, dizziness/vertigo)
 o Neuro/Endo – mental retardation, early Alzheimer’s disease, hypotonia, obstructive sleep
apnea, conductive hearing loss, hypothyroidism
o Optho – cataracts, glaucoma, refractive errors
o Cardio – endocardial cushion defects (Complete A-V septal defect is most common)
o Heme – leukemia (ALL, AML)
o GI – duodenal atresia, Hirschprung’s disease, omphalocele, pyloric stenosis, Celiac’s disease
o Renal – horseshoe kidney
 Additional Screening
o Annual hearing screenings, ophthalmologic exams, & TSH
o Total IgA/IgA anti-endomysium antibodies (age 2)
o Flexion/extension cervical spine radiographs (age 3)
 Pathophys: nondisjunction (95%), Robertsonian translocation (4%), mosaicism (not mom’s fault; 1%);
increased risk with advancing maternal age due to increasing nondisjunction risk
 Dx: clinical presentation/screening + chromosomal analysis (karyotype)

2444/2468/2488: Trisomy 18 (Edwards Syndrome)

 Pre-natal signs:
o 1st trimester: decreased B-hCG/PAPP-A
o 2nd trimester: quad screen (all decreased)
 Presentation:
o Craniofacial – delicate/small facial features)/micrognathia
o Extremities – clenched hands, overlapping digits (2nd over 3rd & 5th over 4th), limited hip
abduction, dorsiflexed big toes, & rockerbottom feet
o Cardio: VSD (most common anomaly; >50%)
o Neuro – mental retardation, hypertonia, scissoring gait (leg swings circumfrentially around to
cross the other leg during a step, ‘scissoring’ with the other leg to maintain balance standing)
o Death within the 1st year of life (cardiac or respiratory failure)
 Dx: clinical presentation/screening + chromosomal analysis (karyotype)

2444/2488: Trisomy 13 (Patau Syndrome)

 Pre-natal signs:
o 1st trimester: decreased B-hCG/PAPP-A
 Presentation
o Craniofacial – cleft lip/palate, cutis aplasia (missing scalp)
o Extremities – polydactyly
o Ocular – microphtalmia (small eyes), retinal dysplasia, colobomas, & single eye (rare!)
o Neuro – holoprosencephaly (prosencephalon fails to divide into two hemispheres),
microcephaly, severe mental retardation, seizures
o Death within the 1st month of life
 Dx: clinical presentation + chromosomal analysis (karyotype)

2441/2444: Fragile X syndrome

o Presentation: mental retardation, long/narrow face, prominent forehead/jaw, large ears, thickened
nasal bridge, blue irises
o Macroorchidisim (Large testes) developing during puberty
o Behavior problems including emotional instability, autism, or ADHD
o Most common hereditary cause of mental retardation in the USA
 o Pathohys: X-linked disorder caused by CGG repeat increases; as the triplet increases rise, the X-
chromosome becomes less stable  damage/phenotype
o Dx: clinical presentation + southern blot for FMR-1 mutation

3123: Phenylketonuria (PKU)

 Presentation: initially asymptomatic, may progress to symptoms if not picked up early
o Mild: early developmental delay/hyperactivity
o Severe: mental retardation, developmental delay, seizure, hypotonia, eczema, mousey-musty
odor, hypopigmentation (blue eyes/blonde hair/lack of pigmented brain structures)
 Pathophys: autosomal dominant mutation of phenylalanine hydroxylase
o Failure of phenylalanine  tyrosine results in phenylalanine accumulation allowing it to enter
alternative metabolism pathways resulting in neurotoxic metabolites
o Lack of PHE  TYR also stops production of melanin (lack of pigmentation!)
 Dx: screening tests +/- clinical presentation
o Tandem Mass spectrometry: dried blood samples are used to detect PHE alternative pathway
metabolic products; best/most cost effective newborn screen
o Quantitative Amino Acid analysis: shows elevated phenylalanine levels (inc. PHE:TYR ratio)
 Tx: PHE-restricted diet initiated <1mo age (normal development if achieved)

3193: Galactosemia
 Presentation: vomiting, diarrhea, FTT, jaundice/hepatic dysfunction/hepatomegaly, cararacts (‘oil-
droplet appearance’), renal tubular acidosis, seizures
o Symptoms onset after breastfeeding/routine formula/cow’s milk ingestion for the 1st time
o Liver cirrhosis/Mental retardation occurs if left untreated
o Females suffer form ovarian failure
o Should be suspected in any newborn with 1hepatomegaly, 2hypoglycemia, or 3E.coli sepsis
 Pathophys: autosomal recessive galactose-1-phosphate uridyltransferase (full phenotype) but other,
less common mutations can result in this disease
o Galactokinase deficiency: only cataracts, no other symptoms
o Uridyl diphosphate galactose-4-epimerase deficiency: typical presentation + hypotonia +
sensoneurial deafness
 Labs: urinalysis (shows non-reducing substance in urine), RBC enzyme testing
 Dx: pre-natal screening +/- labs
 Tx: lactose/galactose free diet (Soy-based formula like Isomil or ProSobee are good ones)
o Early Dx/Tx stops & even reverses liver/renal damage and cataracts

3192: von-Gierke Disease (Type 1 Glycogen Storage Disorder)

 Presentation: hypoglycemic seizures, lactic acidosis, hyperuricemia, hyperlipidemia,
hepatomegaly/protuberant abdomen, enlarged kidneys doll-like faces (rounded cheeks, thin
extremities, short stature)
o Onset around age 3-4mo
o Increased risk of hepatocellular carcinoma
 Pathophysiology: Glucose-6-phophatase (G6P) deficiency in the liver, kidneys, and intestinal mucosae
(unable to break down glycogen  glucose) causing glycogen accumulation & damage
 Labs: urine ketones, metabolic acidosis, high serum triglyceride/uric acid
 Dx: presentation + labs
 Tx: frequent feeding with high complex-carbohydrate diet
Other Mentioned Genetic Diseases
o Fabry Disease – a-galactosidase deficiency; angiokeratomas, peripheral neuropathy, asymptomatic
corneal dystrophy; increased risk of thromboembolism (heart/renal risk is high)
o Krabbe Disease – galactocerebrosidase deficiency; early developmental regression, blindness,
deafness, paralysis/hypotonia, & reflexia; Tx: cord blood transplant before disease onset
o Gaucher’s Disease – glucocerebrosidase deficiency; hepatosplenomegaly, thrombocytopenia, and
classic Erlenmeyer flask-shaped distal femur; death by age 4yr is common; enzyme replacement
therapy is possible
o Hunter’s Syndrome – X-linked recessive lysosomal hydrolase deficiency
o Hepatosplenomegaly, mental retardation, hearing loss, progressively stiffening/contracted
joints, papules over the shoulder girdle, & dysostosis multiplex (skeletal malformations)
o NO blindness (to differentiate from Hurler’s syndrome)
o Dx: clinical presentation + heparin sulfate in urine
o Tx: early bone marrow transplant, but poor prognosis (death within 10-15yr)
o Hurler’s Syndrome – autosomal recessive lysosomal hydrolase deficiency
o Hepatosplenomegaly, mental retardation, kyphosis, progressively coarsening facial features,
progressively stiffening/contracted joints with corneal clouding
o Dx/Tx = same as Hunter’s syndrome
o Hereditary Fructose Intolerance – fructose-1-phosphate aldolase B deficiency; onset of hypoglycemia,
vomiting, diarrhea, FTT, and seizures with introduction of fruit juice. Avoidance of fructose, sucrose,
and sorbitol resolve problems
o Arnold-Chiari II malformation – downward displacement of cerebellum/medulla through foramen
magnum blocking CSF flow (hydrocephalus); associated with lumbrosacral meningomyelocele
o Tx: ventriculoperiotneal CSF shunt
o Dandy-Walker malformation – absent/hypoplastic cerebellar vermis/cystic enlargement of 4th
ventricle blocking CSF flow (hydrocephalus), mild mental retardation/language disorders
o Tx: ventriculoperiotneal CSF shunt
o Congenital Aqueductal Stenosis – X-linked stenosis of CSF outflow tracts; associated CNS abnormalities
(abnormal thumb development or spina bifida) & severe mental retardation
o Tx: ventriculoperiotneal CSF shunt

Ophthalmology
3681: Retinoblastoma
 Presentation: leukoria (absence of the red reflex) +/- strabismus, decreased vision, ocular
inflammation, eye pain, glaucoma, orbital cellulitis
o Tumor is highly malignant and will metastasize to liver or brain without prompt treatment
 Pathophys: inactivation of the Rb tumor suppressor gene (familial or sporadic)
 Imaging: CT or MRI of the brain showing brain mass with calcifications
 Dx: presentation + imaging
 Tx: referral to ophthalmology (this is out of the general pediatrician’s scope!)

4531: Regular Vision Assessment of Children

 Visual assessment should occur at EVERY well child visit for undiagnosed eye problems can result in
blindness. Visual testing modality based on age.
 Infancy
o Observation (pupil/cornial assessment, look for ptosis) fixing and tracking with eyes (normal
extraocular movements)
o Red reflex: looks for leucoria, a sign of retinoblastoma/cataracts
 o Corneal light reflex: shining light into eye produces symmetric light reflections; if not
symmetric, misalignment may be present
o Cover-uncover test: assesses eye deviations & pupil changes when eyes are covered/uncovered
 Age 3
o Monocular Snellen Chart or Tumbling E Chart
 20/40 or worse at age 3-5yr = refer to ophthalmologist
 20/30 or worse at age >6yr – refer to ophthalmologist

3711: Strabismus (ocular misalignment)

 Presentation: ocular misalignment represented by eye deviation after 4mo, asymmetric corneal light
reflexes, asymmetry of red reflex, deviation on cover-uncover test, torticollis/head tilt (compensatory)
o Nasal deviation (esotropia) or temporal deviation (extropia) are both possible
o Complications: amblyopia (permanent vision loss from dis-use of the eye), diplopia (double
vision, from imperfect alignment of eyes)
 Pathohys: asymmetric weakness/neurologic dysfunction of the extraocular eye muscles
o Below the age of 4mo, intermittent strabismus can be totally normal due to immaturity of the
extraocular muscles (ocular instability of infancy); it should resolve with time
 Dx: presentation
 Tx: occlusion therapy (eye patch of normal eye to encourage lazy eye to snap back into shape!) or
penalization therapy (cycloplegic eye drops to blur vision, similar effect to occlusion therapy)

Poisoning & Environmental Exposure

2378: Caustic Ingestion
 Presentation: chemical burn/liquefactive necrosis causing Laryngeal damage (hoarsness/stridor),
esophageal damage (dysphagia, odynophagia), gastric damage (epigastric pain/bleeding)
o Immediate complications: upper airway compromise, perforation, aspiration
o Short-term complications: esophageal stricture/stenosis (2-3wk)
o Long-term complications: ulcers/cancer of upper GI tract
 Imaging: see Tx
 Dx: history + imaging
 Tx: to be done in this order:
o Assess Airway, Breathing, Circulation & address in that order
o Remove any contaminated clothing
o CXR if respiratory signs/symptoms are present
o Hospitalization with upper GI endoscopy within 24hr to assess extent of damage (immediate
endoscopy may not show extent of damage & perforation risk is high).
 NG feeding tube may be placed under endoscopic visualization, but not blindly
o Barium swallow 2-3wk following acute ingestion if persistent swallowing issues remain present
o DO NOT provoke vomiting (milk, water, activated charcoal, vinegar, nasogastric lavage) as it
may push the caustic substance back into the esophagus/airway.
o DO NOT give vinegar to ‘neutralize’ an alkaline substance. It could invoke an exothermic
reaction causing worse damage to the upper GI tract

2655/3827: Iron Poisoning

 Presentation: often history of child eating someone’s pills, but they can’t remember which. Classically
pills belong to mom (prenatal vitamins) or grandma (Fe2+ pills)
o 30min – 2 days: abdominal pain, vomiting/hematemesis, diarrhea/melena, hypotensive shock,
metabolic acidosis/compensatory respiratory alkalosis
 o Around 2 days: hepatic necrosis
o 14 – 56 days: gastric scarring, pyloric stenosis
 Pathophys: Fe2+ is corrosive to GI mucosa in large quantities (abdominal symptoms/bleeding/scarring),
a potent vasodilator (hypotensive shock/metabolic acidosis) & causes lipid peroxidation at the cellular
level killing cells (liver necrosis, damage to GI tract)
 Labs: metabolic acidosis/respiratory alkalosis compensation, low bicarbonate level
 Imaging: abdominal X-ray showing radiopaque pills
 Dx: Hx/Presentation + labs + imaging
 Tx: whole bowel irrigation + deferoxamine (Fe2+ chelator) + supportive care for ABCs (fluids, intubation)

4837: Lead Poisoning (Plumbism) in Children

 Risk Factors: Home build before 1978, around construction/renovation of house (peeling paint), pica,
parent working with batteries/pottery, playmate/sibling with lead poisoning, low SES, immigrant
o Screen any child at 9mo with risk factors with fingerstick blood specimen (capillary lead)
o If screening (+), venous lead level is a confirmatory test for Pb2+
o While lead does accumulate throughout the body, hair, teeth, bone, or urine is not acceptable
 Presentation: often asymptomatic with appearance of learning deficits once school starts
o GI: abdominal pain, nausea/vomiting, constipation, anorexia
o Neuro (short term): listlistness, irritability, seizure, encephalopathy/loss of consciousness
o Neuro (long term): behavioral problems, cognitive impairment
o Heme: microcytic sideroblastic anemia (peripheral smear shows basophilic stippling; bone
marrow shows ringed sideroblasts); does NOT respond to Fe2+ replacement therapy
 Labs: CBC (microcytic anemia), venous lead levels (high), RBC protoporphyrin (high)
 Imaging: X-ray (abdomen shows flecks of lead, limbs show “lead lines” in knees/wrists caused by
increased density of metaphyseal bands due to lead deposit)
 Dx: presentation + venous lead level
 Tx:
o Mild (5-44 mcg/L) – minimize risk factors + repeat test in 1 month
o Moderate (45-69 mcg/L) – Meso-2,3-Dimercaptosuccinic acid (succimer/EDTA)
o Severe (>70 mcg/L) – Dimercaprol (British Anti-Lewisite) + Calcium Disodium Edetate (EDTA)

Miscellaneous Poisonings
 Acetaminophen – nausea/vomiting 24hr following ingestion. Sodium Bicarb is the antidote (alkaline
urine to help pull drug out of blood)
 Aspirin – tinnitus, fever, metabolic acidosis/compensatory hyperpnea (increase rate/depth of
breathing to make for a compensatory respiratory alkalosis); no radiopaque pills on abdominal X-ray
differentiates from Fe2+ poisoning. N-acetylcysteine is the antidote (minimize NAPQI production)

Miscellaneous Antidotes
 Lithium – hemodylasis (Li2+ is easily removed)
 TCAs – Sodium Bicarb (alkaline urine helps remove)
 Hyperkalemia – Calcium gluconate infusion (stabilize cardiac myocytes)

Dermatology
2746/4704: Tinea Corporis (Ring-Worm)
 Risk factors: athlete’s with skin-to-skin contact (wrestling/gymnastics), humid environments, contact
with infected animals
  Presentation: scaly/itch ring-shaped patches with centrifugal spread/well demarcated border  forms
central clearing with raised edge
 Micro: Infection with any dermatophyte, however Trychophyton rubrum is classic
o May illuminate with different colors under Wood’s Lamp
 Coral-red fluorescence = tinea infection by Corynebacterium
 Erythromycin, either systemic or topical, is the treatment of choice
 Green fluorescence = Tinea infection by Microsporum
 No fluorescence = Tinea infection by Epidermophyton or Trichophyton
 Dx: presentation + KOH scraping/prep showing hyphae
 Tx:
o 1st line/Local: 2% antifungal lotion/crème (clotrimazole or terbinafine)
o 2nd line/extensive: oral terbinafine or griseofulvin
 Note that extensive infection should prompt search for immunosupperative disease
 Lookalike: nummular eczema

10553: Tinea Capitis

 Presentation: scaly erythematous plaques of the scalp  patchy alopecia with residual regular broken
hair shafts (black dots) +/- inflammation/pruritis/lymphadenopathy/scarring
o Most common in African American people
 Micro: Trichophyton tonsurans or Microsporum Spp
o Transmission via skin-to-skin contact or fomites (shared combs)
 Dx: presentation + KOH scaping/prep showing hyphae
 Tx: Oral terbinafine, griseofulvin, itraconazole, or fluconazole
o Requires systemic therapy to penetrate the affected hair shafts.
o Household contacts should be given prophylactic selenium sulfide (selsun blue) or ketoconazole
shampoo (prevent penetration of hair follicles)
 Lookalikes:
o Alopecia areata – autoimmune alopecia without black dots
o Discoid lupus – well demarcated plaques causing alopecia/scarring/photosensitivity
o Pressure-induced alopecia – transient hair loss due to constant pressure, usually from surgery
o Trichotillomania – compulsive hair picking with irregular broken hair shafts

2747: Tinea Versicolor (pityriasis versicolor)

 Presentation: hypopigmented area noticed during summer months or vacation (infected skin fails to
tan due to acid production from the fungus), may also feature fine scale or pruritis
 Micro: Malassezia globose classically in hot/humid weather
 Dx: KOH scrape/prep showing hyphae & yeast cells (spaghetti and meatballs appearance)
 Tx: topical ketoconazole, topical terbinafine, or selenium sulfide (selsun blue)

4113: Sunburn
 Presentation: red/painful  peeling  blue/purple, bullous
 Complications: skin cancer (melanoma, basal cell, squamous cell) & photoaging
 Pathophys: UVA/UVB rays cause damage to skin cell DNA
 Dx: clinical presentation
 Tx:
o Mild-moderate: NSAIDs/cool compress, calamine lotion, aloe vera
o Moderate-severe: IV fluids/analgesia, wound care
 Prevention:
 o Avoid the sun: remain indoors between 10AM-4PM (peak sunlight hours), wear protective
clothes (hats, pants, long sleeves, dark/women cloth), & avoid tanning beds (“base tan” does
not protect againt sun damage)
o Sunscreen: apply sunscreen 30 min before exposure, re-apply sunscreen every 2hr; infants
<6mo should not be exposed to chemicals in sunscreen, SPF50 Broad Spectrum provides 98%
protection against UVA/UVB & higher SPF provides diminishing returns

3755: Dermal Melanocytosis (Mongolian Spots)

 Presentation: Benign, flat, blue-grey patches in infants classically over the lower back/buttocks
o Occurs most commonly in African American, Native American, Hispanic, Asian chidlren
o Fades spontaneously in the first decade of life
o Must be documented, as these may be mistaken for bruises
 Tx: reassurance

2758/4104: Atopic Dermatitis (Eczema; “the itch that rashes”)

 Risk factors: relatives with eczema, allergies, or asthma
 Presentation:
o Infant: persistent itch  red/scaly/crusted lesions on extensor surfaces, trunk, cheeks, & scalp
o Child/Adult: lichenified plaques on flexure creases
o Eczema herpeticum: HSV superinfection = fever, pain, lymphadenopathy, new
vesicular/pustular “punched out” eruption in area of eczema  hemorrhagic crusting
o Increased risk of: impetigo, molluscum contagiosum, tinea corporis
o Triggers: anything to dry the skin (dry air, excessive bathing, irritating laundry detergent, etc.)
 Pathophys: improper synthesis of the stratum corneum result in an incomplete epidermal barrier 
allergen infiltration into the skin causing localized allergic reactions
 Dx: presentation + relief with emollients/steroids
 Tx: topical emollients/topical steroids

4711: Seborrheic Dermatitis (“cradle cap”)

 Presentation: erythematous/plaques and yellow ‘greasy’ scales on scalp/eyebrows/eyelids/posterior
ear creases/nasolabial folds, umbilicus, or diaper area + mild itching
 Micro: Malassezia spp.
 Dx: presentation
 Tx: often spontaneous resolution, but appearance/itching can be eased by
o First line: emollients/non-medicated shampoos
o 2nd line or widespread: topical glucocorticoids/topical ketoconazole

2778: Staphylococcal Scalded Skin Syndrome (SSSS; “Ritter Disease”)

 Presentation: typically occurs in children <10yr; adults with kidney disease/immune compromise
o Prodrome: fever, irritability, skin tenderness
o Exantherm: facial erythema  generalized erythema (within 48hr)  superficial flaccid bullae
form (Nikolsky sign +, bursting with crusting common)
 Pathophys: exfoliative toxin targets/destroys desmoglein 1  failure of keratinocyte adhesion in the
superficial dermis resulting in bullae/exfoliation (approx. 1-2wk)
 Micro: S.aureus producing exfoliative toxin
o Cultures of bullae are often STERILE as the toxin is doing the damage, not the bacteria
 Dx: presentation
 Tx: anti-staphylococcal Abx (nafcillin, oxacillin, or vancomycin) + care of denuded skin
 o Low mortality in children; high mortality in adults

4404: Superficial Infantile Hemangioma (Strawberry Hemangioma)

 Presentation: bright red, sharply demarcated, blanching superficial plaque arising in the first
days/weeks of life and rapidly growing within 1st two years of life.
o May appear on any organ which may cause problems; eyelid (strabismus/disfigurement), liver
(bleeding), trachea (airway compromise)
o Most common benign vascular tumor of children
 Pathophys: bed of capillary growth separated only by bits of connective tissue
 Dx: presentation
 Tx: spontaneous regression with no treatment unless causing problems
o If causing problems: Propranolol

10742: Signs of Deliberate Scalding Injury

 Accidental: non-uniform depth, poorly defined margins, & “splash injuries”
 Deliberate: involving buttocks/back/legs with sparing of flexor surfaces (lowered into water), or a
stocking/glove distribution (forced limb into water); uniform depth of burns, sharp line of demarcation
& delay in seeking medical help; CPS must be contacted

3122: Erythema Toxicum Neonatorum

 Presentation: asymptomatic blotchy erythematous papules/pustules  more generalized/diffuse
pattern which spares palms/soles common to full-term neonates in the first two weeks of life
 Dx: presentation
 Tx: reassurance

Various Dermatologic Conditions

 Nummular Eczema: similar to tinea corporis; appears as itchy, red, annular rash, but improves with
emollients & topical corticosteroids (opposite of tinea)
 Nevus Simplex (macular stain, stork bite, salmon patch, angel kiss): blanching, pink-red patches often
appearing on the eyelid, glabella, or midline posterior neck presenting at birth; often regress
spontaneously but may persist as benign lesions
 Erythroderma (exfoliative dermatitis): erythema/scaling on over 90% of the body; individual plaques
pop up and coalesce
 Purpura fulminans: life threatening N.meninigidis or S.pneumo infection causing intense fever/shock,
DIC, and blue-purple hemorrhagic skin lesions

Psychiatric/Behavioral
3386: Pyromania
 Presentation/Dx: impulse control disorder consisting of deliberate fire setting >1 time, tension/arousal
prior to act with relief/pleasure witnessing fire, actions are for no external/secondary gain/attention
o Often fascinated with things tangentially related to fire (firefighters, fire stations, etc.)
 Tx: CBT

4924: Child Sexual Abuse

 Normal (Toddler): exploring own/others genitals, masturbatory movements, undressing self/others
 Normal (School aged): interested in sexual words/play, questions about reproduction/sex,
masturbatory movement (progressively sophisticated)
  Abnormal: repeated object insertion into anus/vagina, sex play depicting oral/anal/genital-genital
contact, use of force/bribes/threats in sex play, inappropriate sexual knowledge
o Abnormal behavior of sexual abuse should prompt further investigation
o May also coincide with anal/genital trauma (which should be assessed)
o Typically, perpetrator is male and knows the victim
o Girls are far more likely the be victims of such abuse; especially during pre-adolescence
o Considered the most invasive form of abuse, often leading to long-term sequelae
o If a child EVER mentions or hints at sexual abuse, it must be taken seriously immediately

2470/4855: ADHD
 Presentation/Criteria: inattentive or hyperactive symptoms >6mo, present before age 12, occurring in
>2 locations, and causing significant impairment
o Inattentive: difficulty focusing, distractibility, does not listen/follow instructions or may ‘half-
heartedly’ complete tasks, disorganized, forgetful, loses/misplaces objects
o Hyperactive: fidgety, unable to sit still, “driven by a motor’, hyper-talkative, interrupts, blurts
out answers even after prompting to stop
o Often getting a parent’s assessment (home) and a teachers assessment (school) with validated
ADHD scales gives good insight into the problem, aiding with diagnosis
 Tx: Pharmacotheray + Educational/Behavioral interventions (not just Adderall!)
o Pharmacotherapy
 First line: methylphenidate, dextroamphetamine, mixed amphetamine salts (stimulants)
 Second line: Atomoxetine (NE reuptake inhibitor)
 Guanfacine or Clonidine (a2-agonists) may be used as adjunct therapy
o Educational/Behavioral
 Behavior modification/social skills training
 Accommodation at school

2516/3379: Autism Spectrum Disorder

 Presentation: A wide-range of social impairment and restricted & repetitive behaviors/interests
o Can be mild (formerly known as Asperger's disorder) to very severe
o Often recognized between 1 and 2 years old
o Genetic correlates with fragile X syndrome, trisomy 21, Rett syndrome, tuberous sclerosis
 Criteria
o Problems with social interaction and communication including:
 impairment in normal social/emotional interactions
 deficits in nonverbal communication skills
 difficulty/lack of interest in establishing interpersonal relationships
o Restricted, repetitive patterns of behavior, interests, and activities including:
 intense, peculiar interests
 inflexible adherence to rituals ("rigid through patterns")
 stereotyped, repetitive motor movements (hand flapping)
 hyper/hyporeactivity to sensory stimulation (reactivity to certain textures)
o Begins in early childhood development
o Cause significant social/occupational impairment
 Tx: Level of intellectual impairment and level of language impairment is best predictor of prognosis
o Early interventions can help maximize these pts communication/ability to function socially
o Remedial education/behavioral therapy are mainstays
o Low dose atypical antipsychotics may be used to help limit aggression/irritability
 o Ultimate goal is to recover as much social skill as possible for these kids
o Assess for potential causes of pain/discomfort in the child. Apparently the pain can drive these
children to these more intense behaviors.

3760/8923: Obsessive Compulsive Disorder (OCD)

 Presentation: Disorder comprised of obsessions and compulsions:
o Obsessions: recurrent/intrusive/undesired thoughts that cause anxiety
o Compulsions: repetitive behaviors or mental rituals; failure to complete a compulsion = anxiety
 Performed in response to an obsession
 Done to relieve stress or avoid disaster
 Not realistically linked with their trying to prevent
 Criteria
o Pt experiences obsessions and/or compulsions that consume >1hr of their day or cause
significant distress
o Not from substance/medication/disease
 Tx: CBT + Pharmacotherapy
o CBT focuses on gradual exposure to stimuli that trigger rituals and prevention of the
compulsion done to alleviate it
o Pharmacology
 1st line: SSRIs (often high dose)
 2nd line: serotonin selective TCAs or clomipramine
 Antipsychotics may be used in augmentation
 Last resort: brain surgery or ECT

4898: Imaginary Friends are common in children aged 3-6yr but may persist throughout school age. These
serve no detriment to social relationships and often aid in developing communication/story-telling skills.
These are totally normal development for these ages.

3384: Trichtillomania
 Presentation: Chronic compulsion to pull out hair
o More common in women (10:1 ratio)
o Usually onset with puberty/associated with stressful events
o Often involves scalp, eyebrows, eyelashes, but can be any hair
 Criteria:
o Recurrent pulling of hair, resulting in hair loss
o Repeated attempts to stop/decrease pulling hair
o Causes significant stress/not caused by something else
 Tx:
o CBT is the best evidenced therapy
o SSRIs, anti-psychotics, N-acetylcysteine, or lithium all can have some benefit

4893: Neonatal Abstinence Syndrome

 Opiates/Heroin: irritability, high-pitched cry, tremors, seizures, sweating, sneezing, tachypnea, poor
feeding, loose stools, vomiting
o Heroin (48hr post-natally), Methadone (72hr post-natally) present at different times, but may
be delayed up to 4wk post-natal
o Tx: small/frequent feeds, swaddling, low stimulation +/- heroin weaning
 Cocaine: jitteriness, excessive sucking, hyperactive Moro reflex
  Phenytoin (fetal hydantoin): nail/digit hypoplasia, dysmorphic facies, mental retardation, poor growth
 Valproic Acid: increased risk of NTD, cardiac malformations, and abnormal facies (cleft lip, narrow
head, midface hypoplasia, broad/depressed nasal bridge, long philtrum)

3380: Selective Mutism

 Presentation: Rare condition where a patient does not speak in specific situations
o often manifests in childhood
o usually occurs in social situations
o pt may be silent, quietly whisper, or only use non-verbal means of communicating
 Criteria:
o Consistent failure to speak in select social situations despite normal speech in others
o Mutism not the result of language difficulty or communication disorder
 Last >1 month (cannot be the 1st month of school)
 Significant impairment in academic/occupational/social function
 Tx:
o 1st line: CBT or family therapy
o SSRI may be used if anxiety is present (not uncommon for these pts)

3375: Tourette’s Disorder

 Presentation: A severe tic disorder comprised of both motor and vocal tics
o Tics are common at some point in childhood, but persistent tics are abnormal
o Often onset around age 5, sometimes alongside a stressful life event
o Tics may wax or wane/change in type
o Often tics lessen in adolescence and diminish in adulthood
o Increased incidence of development of Obsessive compulsive disorder (OCD)/ADHD
 Criteria
o Multiple motor tics AND at least 1 vocal tic occurring for >1yr after onset of 1st tic
o Onset prior to 18 years old
o Not caused by a substance or another medical condition
 Tx: Behavioral interventions (habit reversal therapy) to minimize tics are a mainstay of treatments +
Medications are used if the tics begin to impair function
o First line: Guanfacine (a2-agonist)
o Second line: Clonidine (a2-agonst; more sedating)
o Atypical/typical antipsychotics may be used in severe cases

Oppositional Defiant Disorder

 Presentation: Irritability/anger, defiance, or vindictiveness causing dysfunction/distress
o Commonly seen in pre-adolescent boys
o May transform into Conduct Disorder (most do not however)
o Classically the child has no trouble with peers but lots of trouble with teachers/parents
o Does NOT involve physical aggression or violation of others' basic rights
 Criteria
o Anger/irritable mood (losing temper, touchy, often angry)
o Argumentative/Defiant Behavior (breaks rules, argues with authority figures, annoys others)
o Vindictiveness (spiteful at least 2x in past 6 months)
o Behavior causes distress or has negative impact on pt or people around pt
 Tx:
o For the Child: Behavior modification/problem-solving skills training
 o For the Adult: Parent Management Training (improve limit setting/enforcement)

Conduct Disorder Criteria

 Serious disorder where pt will willfully violate the rights of people/animals
o May be cruel to animals or cause physical/sexual violence without remorse
o Associated with anti-social personality disorder (should be assessed for this at age 18)
 Criteria
o Must be younger than age 18
o Aggression to people and animals (bullying, threats, physical fights, cruelty, theft, forcing
people to undergo sexual acts)
o Destruction of property (Fire setting or other modes of destruction)
o Deceitfulness or Theft (Engaging in break-ins, stolen items with/without confrontation)
o Serious violation of rules (stays out late before 13 years old, run away from home overnight at
least twice, truant from school before age 13)

Hematology/Oncology
3172/3571/3640/3713/3785/3786/3838/3916/4341/4342/4439/4468/4825: Sickle Cell Disease
 Presentation: vaso-occlusive pain crisis
o Acute, severe pain somewhere in the body, low-grade fever, redness/warmth of affected
region, sometimes after a trigger (exercise, dehydration, etc.)
o Dactylitis (hand-foot syn; symmetric swelling & tenderness of hands/feet) is the earliest visible
manifestation of a pain crisis
o X-ray may show soft tissue swelling/mottled bone (recurrent)
 Complications:
o Isothenuria – polyuria, nocturia, and hematuria (microscopic or gross)
 Infarction of renal vasa recta  impaired concentrating ability of kidney
 Most common complication of sickle cell disease
o Acute Chest Syndrome – cough, SOB, chest pain, hypoxemia + new pulmonary infiltrate
resulting from damage to pulmonary vasculature/vascular congestion
o Megaloblastic Anemia – due to folate deficiency from high RBC production to compensate for
high RBC turnover (B12 can occur but rare)
o Aplastic Crisis – acute severe anemia (<6 g/dL), low reticulocyte ct (<1%), no splenomegaly;
normal WBCs and platelets; may have functional heart murmur from hyperdynamic flow
 Secondary to Parvovirus B19 infection (Fifth’s disease: fever, nausea, flu-like symptoms,
slapped cheek rash); virus infects RBC bone marrow precursors and halts erythropoiesis
 Tx: Blood transfusion to keep counts up till virus resolves
o Splenic sequestration crisis – acute severe anemia (<6g/dL), thrombocytopenia, high
reticulocyte count, rapidly enlarging spleen; normal WBC count
 Vasoocclusion/outflow obstruction causing pooling of RBCs within the spleen
 Can becomes severe enough to cause hypovolemic shock
 Occurs prior to autoinfarction of spleen
o Functional Asplenia – by age 5, susceptibility to encapsulated organisms; Howell-Jolly Bodies
o Priapism – penile outflow obstruction (common in children/adolescents)
o Other – Osteomyelitis (S.aureus most common; Pseudomonas more common than average
person), avascular necrosis of the femoral head (sickling occlusion), pediatric stroke (SCD is
most common cause), Increased risk of MI (chronic anemia/overworking heart), gallstones
(increased RBC turnover causing pigment overload),
 Pathophysiology: autosomal recessive mutation in the B-globin gene for Hb (Glu  Val) producing HbS
 o Sickle cell Disease = both hemoglobin genes affected and encode for HbS
o Hb distribution: HbA (0%), HbS (95%), HbF (5%)
o Low O2 tension causes polymerization of Hb  sickling of RBCs  adhesion  occlusion
 Micro: functional asplenia results in difficulty fighting off encapsulated organisms
o S.pneumo (Non-vaccine serotypes) – most common cause of pneumonia (even with vaccines)
o H.flu/N.meningitidis – encapsulated, but rarely cause problems in vaccinated kids
o Salmonella/S.aureus – most common causes of osteomyelitis
 Dx: presentation + hemoglobin electrophoresis (shows HbS)
 Tx:
o Acute Crisis – hydration/analgesia +/- RBC transfusion
o Long-Term Maintenance
 Regular baseline CBC + regular CBC/reticulocyte counts; CXR at 2yr of age + periodically
 Hydroxyurea (increase HbF to >15%; concern of reversible myelosuppression)
 Vaccination against encapsulated organisms (S.pneumo, N.meningititis, Hib, etc.)
 Prophylactic penicillin until age 5 (helps protect against S.pneumo)
 Folic acid supplementation (prevents megaloblastic anemia)

3967/3787/4825: Sickle Cell Trait

 Presentation: typically, no features of sickle cell trait, but sub-clinical damage may contribute to long-
term complications of disease
o May have family members or relatives with sickle-cell anemia
o More common in African, Middle-Eastern, and Mediterranean people
 Complications:
o Renal:
 Episodic renal papillary necrosis (massive hematuria that resolves spontaneously)
 Inability to concentrate urine (infarction of vasa recta)
 Distal renal tubular necrosis
 Renal medullary carcinoma
o Splenic infarction (more common at higher altitudes)
o Venous thromboembolism
o Priapism
 Pathophysiology: autosomal recessive mutation in the B-globin gene for Hb (Glu  Val) producing HbS
o Sickle cell Trait = only one hemoglobin gene affected and encode for HbS
 Dx: gel electrophoresis showing HbA & HbS with higher proportion of HbA

4436: Hyposthenuria
 Impaired ability to concentrate urine in the glomerulus often resulting in frequent urination and
frequent nocturia seen in patients with sickle cell trait/disease
o RBC induced blood thickening within the thin vasa recta along the glomerulus in the inner
medulla (high solute concentration), causes impaired countercurrent exchange with the
glomerulus inhibiting free water absorption
 NOTE that this does not damage this kidney in any way. It’s really a blood/vascular problem. The
kidney is actually functioning just fine!

4249/4861: Hemophilia A & Hemophilia B (Christmas Disease)

 Presentation: delayed/prolonged bleeding after minor trauma/procedure
o Hemarthroses (bleed into joint), intramuscular hematomas, GI bleeding, hematuria (without
kidney damage), and spontaneous bruising are all common signs
 o Hemophilic arthopathy: chronic worsening joint pain, swelling, limited range of motion
 Hemarthrosis  deposition of iron/hemosiderin into joint  synovitis/fibrosis
 Best seen on CT scan of affected joint (shows fibrosis/deposition)
 Labs: Prolonged aPTT, decreased Factor VIII or Factor XI, normal platelet count/bleed time/PT
 Pathophysiology: X-linked recessive disorder causing lack of clotting factors (A = factor VIII def; B =
factor IX def); male severely affected; females mildly affected
 Dx: presentation + labs
 Tx: Administration of missing factor through injection
o Desmopressin can promote Factor VIII production and be used in mild Hemophilia A

4112/4183: Vitamin K Deficiency

 Vit K is a critical co-factor for enzymatic carboxylation of clotting factors II, VII, IX, X. Typically vitamin K
stores can last 30 days but in sick folks only last about 1 week!
 Presentation: bleeding diathesis with evidence of pathologic anticoagulation
o Classically lack of supplementation at birth, malabsorption for any reason, or liver disease will
lead to Vit.K deficiency
 Dx: clinical presentation
 Tx: Fresh Frozen Plasma administration with vitamin K injection

4819: Neonatal Polycythemia

 Presentation: neologic signs (irritability, jitteriness), ruddy skin, hypoglycemia/hypocalcemia/
hypomagnesemia (increased RBC metabolism), respiratory distress/cyanosis/apnea, or abdominal
distention
o Often child’s glucose levels stabilize by 24-48hr
o Hypocalcemia may result in tetany which will not resolve until 72-96hr (calcium gluconate
infusion may be necessary to stop deterioration)
 Pathophysiology: extremely high hematocrit (>65%) causing increased viscosity of blood causing
‘sludging’ and poor flow to end-organs
o Increased erythropoiesis from neonatal hypoxia from placental insufficiency (maternal
diabetes, maternal HTN, smoking, & IUGR)
o Erythrocyte transfusion: delayed cord clamping or twin-twin transfusion syndrome
 Labs: CBC (hematocrit >65%), CMP (hypocalcemia/hypomagnesemia/hypoglycemia)
 Dx: presentation + hematocrit >65%
 Tx:
o Asymptomatic: hydration (feeding or IV fluids)
o Symptomatic: partial exchange transfusion (take out whole blood & infuse normal saline) until
hematocrit normalizes

3647/4359: Characteristic Findings on Peripheral Blood Smears

 Basophilic Stippling: multiple blue granules in RBCs resulting from ribosome precipitation from lead
poisoning, heavy metal poisoning, or thalassemias
 Howell-Jolly Bodies: basophilic dots within RBC seen with Wright Stain; consist of residual DNA left
over from cell division, typically are removed by the spleen; occur due to asplenia/functional asplenia
 Pappenheimer Bodies: basophilic clusters of heme-Fe2+ in RBCs that stain with both Wright/Prussian
Blue stains. Appear most frequently with increased hemolysis, but are found in normal smears
 Heinz Bodies: basophilic dots on RBCs peripherally caused precipitation of Hb proteins from G6PD-
deficiency due to oxidative damage form lack of glutathione to serve as a reducing agent
  Degmacyte (Bite Cell): RBCs with small “bites” taken out of them; result of normal functioning spleen
removing precipitated Heinz bodies splenic macrophages (they bite out the Hb, leave RBC intact)
 Spherocyte: smaller RBCs with no central clearing, result of blebbing off the RBC membrane resulting
in increased surface area & loss of central clearing; hereditary spherocytosis
 Schistocytes (Helmet cells): fragmented RBCs typically due to microangiopathic hemolytic anemia
(RBCs get sheared in intravascular platelet clots due to some patholologic process)
 Echinocyte (Burr cells): spiny RBCs with small spines of uniform size/shape; classically occurs in uremia,
but may also occur in anorexia nervosa, long-distance running, dialysis, or other things
 Acanthrocyte (spur cells): spiny RBCs with large spines of varying size/shape; wide variety of pathology
can cause these (must look at clinical picture)
 Dacrocyte (Teardrop cells): occur with hematopoiesis outside of the bone marrow after myelofibrosis;
may occur in Thalassemias, esp. post-splenectomy
 Sickle Cells: smooth, ‘sickle-shaped’ cells caused by abnormal B-globin chain precipitation in SCD
 Target Cells: abnormal RBCs with central clearing and small cleared out ring; result of abnormal RBC
membrane interactions due to thalassemia
 Microcytosis/Hypochromia: small RBCs with more prominent central clearing; iron deficiency anemia
(less Hb to fill up the RBC ‘doughnut’)

4331/3609/4347: G6PD deficiency (glucose-6-phosphate dehydrogenase)

 X-linked recessive disorder which can result in acute anemic crises in response to certain situations.
G6PD typically used to generate glutathione to minimize oxidation damage to RBCs. Should a
oxidizing stressor come on, G6PD deficiency pts are not able to compensate.
o Classically triggered by infection, oxidant drugs (anti-malarials, sulfa drugs, etc.), and fava bean
 Presentation: acute hemolytic crisis (fever, jaundice, abdominal pain, dark urine) due to hemoglobin
denaturation and disruption/lysis of RBCs.
o Labs: normal G6PD levels are typical (as the deficient cells were destroyed and new
reticulocytes have normal G6PD levels)  re-test in 3 months after crisis
o Smear: degmocytes (“bite cells”) and Heinz bodies (denatured basophilic hemoglobin)
o Urine may stain with Prussian Blue (+ is presence for iron, thus hemolysis is occuring
 Dx: clinical scenario/blood smear
 Tx: supportive care during crisis with avoidance of precipitating substances

3440/4383/4860: Immune Thrombocytopenia (ITP)

 Presentation: recent viral infection, asymptomatic petechiae/ecchymosis, mucocutaneous bleeding
(epistaxis, hematuria, GI bleeding)
o In children; occurs most common between 2-5yr
 Pathophysiology: Platelet destruction/inhibition of megakaryocyte production by IgG anti-platelet
membrane glycoprotein antibodies
 Labs: isolated thrombocytopenia (<100,000)
 Peripheral Blood Smear: megakaryocytes with no other abnormalities
 Dx: clinical presentation, CBC, Labs with HIV/HCV testing (may be cause of disease)
 Tx:
o Kids: Skin only = observe | bleeding = IVIG or glucocorticoids
o Adults: Plt >30k + no bleed = observe | Plt <30k or bleed = IVIG or glucocorticoids

2870/3062/3282/4333: Hereditary Spherocytosis

 Presentation: hemolytic anemia, jaundice, splenomegaly classically in European-descent folks
o Complications:
  Aplastic anemia in Parvovirus B19 infection
 Pigmented gallstones (increased hemolysis causing increased bilirubin)
 Overwhelming sepsis from encapsulated organisms if spleen has been removed as Tx
 Pathophysiology: Autosomal dominant defect in spectrin or ankyrin RBC structural proteins resulting in
RBC membrane blebbing and eventually deformation into fragile spheres (not bi-concave disks)
 Labs: anemia, inc. MCHC (>36%)/dec. MCV (small RBCs), indirect hyperbilirubinemia
 Peripheral Blood Smear: abundant spherocytes with some shearing of RBCs
 Dx: Osmotic fragility test (increased fragility), acidified glycerol lysis test (increased lysis), or abnormal
eosin-5-maleimide binding test, with negative Coomb’s test and blood smear
 Tx:
o Definitive: splenectomy (stop RBC destruction) with following additional interventions
 Anti-pneumococcus, Haemophilius, and meningococcus vaccines before splenectomy
 Folate supplementation
 Daily oral penicillin for 3-5yrs after surgery due to risk of sepsis post-splenectomy, which
apparently lasts for >30yrs even though our prophylaxis only goes on for about 5 years.
o Symptomatic: blood transfusions (often needed in neonates who cannot produce new RBCs
quickly enough)

3774: Anemia of Prematurity

 Presentation: asymptomatic (most common); tachycardia, apnea, poor weight gain
o Diagnosis of exclusion after ruling out hemolysis, enzyme defects, Hb-opathies, infection
o Typically, physiologic RBC nadir in childhood is around 2-3mo
 Pathophysiology: low EPO/decreased reticulocyte production (increased O2 after birth limits EPO
production), short RBC lifespan (HbF only lasts 50 days), & frequent phlebotomy if in NICU (lab draws)
 Labs: CBC (low Hb/Hct/reticulocytes), smear (normocytic, normochromic RBCs)
 Dx: presentation + labs
 Tx: iron supplementation, minimize blood draws, RBC transfusions (only if necessary; will prolong
disease course from further EPO suppression)
o EPO administration is NOT effective for decreasing need for RBC transfusion

2875/2877/4358: Iron Study Characteristics in Microcytic Anemias

 Iron Deficiency: not much iron around, thus the body is looking to take up as much as possible
o Decreased: MCV, serum iron, ferritin, transferrin saturation (iron/TIBC)
o Increased: TIBC
 Thalassemia: poor production of hemoglobin leaves iron out in the blood
o Decreased: MCV, TIBC
o Increased: iron, ferritin, transferrin saturation
 Anemia of Chronic Disease: the body takes inflammation to mean “bacterial infection” and sequesters
iron in hopes that it’ll limit bacterial reproduction.
o Decreased: MCV, iron, TIBC, transferrin saturation
o Increased: ferritin
o Typically, a chronic inflammatory disease (autoimmune is classic!) can be noted from vignette.
Treatment is as follows:
 Underlying condition treatment (autoimmune disease will be immunosuppressed)
 If no improvement  administer EPO to stimulate RBC production
 If no improvement  packed RBC transfusion to get RBC count back up

2857/4858/4876: Iron Deficiency Anemia

  Risk Factors: prematurity, lead exposure, consuming low-iron formula
o <1yr: consuming low-iron formula, cow/soy/goat milk, exclusive breastfeeding after 6mo
o >1yr (toddler): >24oz cows milk/day, <3 servings of iron rich foods/day
o Also classically occurs in teenage girls (poor diet, rapid growth, menstruation losses)
 Presentation: tiredness, pallor, pica, koilonychias (spoon nails)  CHF/cardiac dilatation (very severe)
o The most common nutritional deficiency in childhood
o Must be differentiated from thalassemias (very common cause of childhood anemia)
 Pathophysiology: many many reasons (bleeding, RBC problems, poor intake, etc.)
o Cow’s Milk <24oz (700mL)/day: low Fe2+ content & bioavailability; may induce milk-protein
colitis causing blood loss in stool (children cannot handle the milk protein)
 Labs: CBC (anemia (Hct <30%), low MCV, high RDW >20%), iron studies (decreased iron/ferritin,
increased TIBC), normal Hb elecrophoresis
o RDW elevations occur in nutrient deficiencies because nutrient levels vary through the day;
often RDW is the 1st abnormality that can be spotted in iron deficient anemia
o Mentzer index (RDW/RBC) usually >13 (due to decline in RBCs)
 Peripheral Blood Smear: hypochromia/microcytosis of RBCs
 Dx: presentation + labs + smear
o Childhood Screening: CBC of all children 1yr of age
 Tx: empiric oral iron supplementation (4-6mg/kg/day) + Vitamin C (enhance iron absorption)
o Re-check CBC in 4 weeks following iron initiation; if Hb has risen by 1g/dL then continue for 2-
3mo and make appropriate diet changes. Re-check at next well-child visit
o Blood transfusions are rarely needed in children, even if Hb <4g/dL
o If oral iron does NOT resolve anemia, Hb electrophoresis (thalaseemias), colonoscopy (GI
bleed), or serum creatinine (renal dysfunction) may be indicated

4348: Pica/Pagophagia
 Pica – appetite for substances other than food (clay, dirt, or paper are common)
o May have exotic appetite (hair, light bulbs, etc.) when associated with psychiatric disease
 Pagophagia – appetite for ice
 Both classically associated with iron deficiency anemia and may appear before iron deficiency is
present, thus any patient with these signs/symptoms should have bloodwork done

4343/4440/4875: A & B-Thalassemia Minor

 Presentation: fatigue/mild microcytic anemia which does NOT respond to iron supplementation
o Often anemia is picked up on 1yr screening & doesn’t respond to supplemental iron!
 Pathophysiology: Defect in one of the genes for a or B-hemoglobin resulting in reduced hemoglobin
production, thus mild chronic anemia refractory to iron supplementation
o More severe variants (major variants) involve more than 1 globin genes
o Classic in people of Mediterranean origin
 Labs: CBC (low Hct (>30%), low MCV, normal RDW/RBCs), iron studies (normal-increased iron/ferritin),
Hb electrophoresis (Alpha-thal = normal, Beta-thal = increased Hb-A2)
o Mentzer Index (MCV/RBC) <13 due to normal/increased RBCs
 Peripheral Smear: target cells & dacrocytes (teardrop cells)
 Dx: failure to respond to Fe2+ supplementation, genetic testing or or elevated HbA2 on electrophoresis
(if B-thalassemia minor)
 Tx: symptomatic treatment

3818: Diamond-Blackfan Anemia (Congenital Pure Red Cell Aplasia or Congenital Hypoplastic Anemia)
  Presentation: neonate with progressive pallor, FTT, congenital anomalies (webbed neck, cleft lip,
shield chest, triphalangeal thumbs; 50% of cases), mental retardation (50%)
 Pathophysiology: sporadic mutational defect in erythroid progenitor cells resulting in accelerated
apoptosis (some AD & AR defects, but much less common 15%)
 Labs: CBC (macrocytic anemia, low reticulocyte ct), Hb electrophoresis (elevated HbF)
 Smear: macrocytic RBCs without hypersegmentation of neutrophils
 Dx: presentation + labs + smear
 Tx: corticosteroids (limit apoptosis) or blood transfusions (if unresponsive to steroids)

3200/4438: Aplastic Anemia

 Presentation: pallor, fatigue, weakness, appetite loss, easy bruising, petechiae, mucosal bleeding, fever
 Pathophysiology: injury to the bone marrow results in severely impaired hematopoiesis
o Chemotherapy, Abx (chloramphenicol), drugs (NSAIDs, sulfonamides, carbamazepine),
insecticides, toxins (benzene, glue, CCl4), infections (HIV, EBV, parvovirus B19), thymoma and
MANY other things can cause this
 Labs: CBC (normo/macrocytic anemia, leukopenia, thrombocytopenia, low reticulocyte ct)
 Dx: bone marrow biopsy (marked hypocellularity in all lines, fatty infiltration)
 Tx: (depends on cause)

4438: Fanconi Anemia

 Presentation: congenital aplastic anemia (most common cause) + congenital abnormalities
o Bone marrow: aplastic anemia & progressive bone marrow failure
o MSK: short stature, microcephaly, microphthalmia, absent/hypoplastic thumbs, hypogonadism
o Skin: café-au-lait spots, hypo/hyperpigmented areas, large freckles
o Eyes: strabismus
o Ears: low-set ears, middle ear abnormalities (hemorrhage, poor development, chronic
infections, deafness)
 Pathophysiology: autosomal or X-linked recessive mutations in DNA repair genes
 Labs: CBC (pancytopenia), bone marrow biopsy (marked hypocellularity, fatty infiltration)
 Dx: presentation + genetic analysis showing chromosomal breaks
 Tx: hematopoietic stem cell transplant

3437/3438: Hemolytic Uremic Syndrome (HUS)

 Presentation: antecedent bloody diarrhea followed by classic triad:
o Microangiopathic hemolytic anemia: jaundice, pallor, fatigue
o Thrombocytopenia: petetchiae, bruising, increased bleeding
o Acute kidney injury: poor urine output, edema, elevated BUN/Creatinine
 Pathophysiology: Shiga toxin invades colonic endothelium & kills the cells causing bloody diarrhea &
damages endothelium of vasculature (platelet activation/shearing of RBCs)
o Classically child ate undercooked hamburger, unwashed fruits or vegetables, or visited a petting
zoo before the EHEC started
 Micro: E.coli (EHEC) producing Shiga-like toxin (O157:H7) or Shigella (Shiga toxin)
 Labs: CBC (anemia, thrombocytopenia, inc reticulocyte ct), indirect hyperbilirubinemia, iron studies
(normal-increased ferritin, decreased haptoglobin), renal function (increased creatinine, proteinuria,
microscopic or gross hematuria)
 Smear: schistocytes (helmet cells)
 Dx: presentation + labs + smear
 Tx: supportive care (fluids  blood transfusions,  dialysis)
 o Do NOT use anti-motility agents in EHEC (will retain toxin = worse damage)
o Do NOT use antibiotics for Tx of hemorrhagic diarrhea (may increase incidence of HUS)

2867/3284: Acute Lymphoblastic Leukemia (ALL)

 Presentation: non-specific systemic symptoms +/- bone pain, lymphadenopathy, hepatosplenomegaly,
pallor (from anemia), petechiae (thrombocytopenia)
o Most common childhood cancer (occurs typically age 2-5yr; male predominance; ^Down syn.)
 Pathophysiology: abnormal proliferation of lymphoblasts in bone marrow causing WBC
hyperproduction and crowding out of erythroid progenitor cells
 Labs: CBC (anemia, thrombocytopenia, leukocytosis with lymphocyte/lymphoblast predomience)
 Imaging: CXR showing widened mediastinum (thymic hyperplasia)
 Smear: lymphoblasts/atypical lymphocytes/lymphocyte predominance
o Lymphoblasts can be confirmed with staining (PAS+, TdT+)
o Myeloblasts (like in AML) would stain positive for peroxidase+ granules
 Dx: bone marrow biopsy with >25% lymphoblasts
 Tx: corticosteroids + multi-drug chemotherapy/bone marrow transplant

ENT
2830/3972: Acute Otitis Media (AOM)
 Risk Factors: formula intake (in lieu of breastmilk), cigarette smoke exposure, allergic rhinitis, recent
URI, craniofacial abnormalities, chronic middle ear effusion
 Presentation: fever, URI symptoms, unilateral or bilateral ear pain (tugging on ear), decreased hearing,
immobile/inflamed/distorted tympanic membrane
o Pus/drainage may occur if rupture of tympanic membrane
o Complications: Bullous Myringitis (serous, fluid-filled blisters on the tympanic membrane),
chronic supprative otitis media, eardrum perforation/conductive hearing loss, mastoiditis,
labrinthitis, cholesteatoma, tympanic sclerosis, meningitis
 Pathophysiology: accumulation of infected fluid in the middle ear; common in children aged 6-36mo
due to Eustachain tubes being short/easily clogged
 Micro:
o Most common: Streptococcus pneumoniae, Haemophilus influenzae, and Moraxella catarrhalis
o If persistent/recurrent: Penicillin-resistant S. pneumoniae (B-lactamase production)
 Dx: inspection of the ear +/- pneumatic otoscopy showing abnormal movement
o Tympanocentesis may be done to drain/culture, esp. with failure to standard therapy
 Tx: 10-day course amoxicillin (80 mg/kg/day); close follow-up
o If mild/unilateral, child >2yr, normal immune system: observation
o If not responding to amoxicillin (return of symptoms with 1 month): amoxicillin-clavulanic acid
o If allergic to penicillins: azithromycin 5-7 days
o If recurrent despite Abx (>3 inf in 6mo; >4 inf in 12mo): myringotomy with tympanostomy tube
+ tympanocentesis/culture
o Decongestants/antihistamines are NOT appropriate as part of treatment

2839: Otitis Media with Effusion (OME)

 Presentation: Middle ear effusion resulting in mild conductive hearing loss without infectious
symptoms. Ear canal shows dull tympanic membrane with hypomobility on pneumatic otoscopy
o The most common middle ear pathology in HIV/AIDS due to lymphadenopathy obstructing the
Eustachian tube
 Dx: presentation +/- pneumatic otoscopy
  Tx: Children with serious otitis media (usually from a Hx of sinus/ear infections) can likely be observed
for spontaneous resolution.
o Tympanostomy tubes: If hearing changes persist for 3 months or greater; aid in draining middle
ear fluid and offset obstruction
o Surgery: helpful, but only used in chronic cases
o There is NO medical therapy shown to help serous otitis media

Otitis externa (“Swimmer’s Ear”)

 Presentation: ear discomfort/pain/itching with traction (pulling on the ear), tenderness with tragus
manipulation, inflammation of the external ear canal +/- white discharge; overall otherwise healthy
o Classically occurs with some impairment of regular protective mechanisms (swimming,
cerumen removal, trauma, etc.)
o Tympanic membrane will appear normal
 Dx: presentation
 Tx:
o Mild: topical application of acetic acid (vinegar) to restore natural acidic environment
o More severe: topical Abx (floroquinolone)/corticosteroid + wick insertion
o Perforated oral & topical Abx + wick insertion

2828/3260: Malignant (necrotizing) Otitis Externa

 Presentation: intense, unrelenting ear pain that’s worse at night & does not respond to Abx
o Purulent ear drainage/feeling of fullness; Ear canal shows granulation tissue/edema.
o Complications: osteomyelitis of the skull base with cranial nerve involvement (facial droop) or
TMJ involvement (pain radiating to jaw & worsened by chewing)
o Associated with poorly controlled diabetes/immunosuppression in elderly patients
 Micro: 95% of these are caused by P.aeroginosa (classic if you’re also diabetic!)
 Dx: clinical presentation with CT/MRI evidence of infection
 Tx: IV ciprofloxacin (first line)
o Fluoroquinolone resistant: other IV anti-pseudomonals (Pip-tazo/cefepime/ceftazidime)
o Failure to respond to Abx: surgical debridement/biopsy to exclude cancer

2831: Cholesteatoma
 Presentation: chronic ear discharge +/- formation of heterogenous mass of ear debris
o Should be suspected in any pt with chronic ear drainage despite proper Abx therapy
o Complications: Hearing loss, cranial nerve palsies, vertigo, brain abscess/meningitis
 Pathophysiology: collection of debris within the middle ear against the tympanic membrane that can
lead to surrounding damage/destruction of local tissue
o Congenital: collection of debris/etc present from birth
o Acquired: chronic middle ear disease forms a contraction pocket within the tympanic
membrane; over time granulation tissue/skin debris collect in this pocket
 Imaging: CT head (assess damage to surrounding structures)
 Dx: presentation + full otologic exam + visualization
 Tx: removal of cholesteatoma by ENT

4090: Hearing Impairment in a Child

 Etiology: recurrent ear infections (most common), congenital hearing loss, etc.
 Presentation: inattentiveness, not responsive to commands until modality other than speech is used
(tapping on the shoulder), poor language development, social isolation
 o ADHD kids will have strong language development and are often quite social
 Dx/Tx: full otologic workup & addressing underlying problem

4201: Non-Allergic vs Allergic Rhinitis

 Non-allergic Rhinitis
o Nasal congestion, rhinorrhea, sneezing, post-nasal drip
o Red, boggy nasal mucosa
o No obvious allergic trigger with symptoms year-round
o Typical onset >20y/o
o Tx: intranasal anti-histamine and/or intranasal glucocorticoid
 Allergic Rhinitis
o Watery rhinnorhea, sneezing, with eye symptoms (red, watery, itchy eyes)
o Pale/bluish nasal mucosa
o Obvious allergic trigger or associated allergic disorder with seasonal patterns
o Typical onset <20y/o
o Tx: intranasal glucocorticoid

2195/2847: Peritonsilar Abscess (‘Quinsy’)

 Presentation: fever, chills, sore throat, muffled “hot potato” voice, uvular deviation, unilateral
lymphadenopathy, pooling of saliva, and trismus (unable to open jaw) from muscle spasm
o Airway obstruction and spread to parapharyngeal space (carotid sheath involvement)
 Dx: clinical scenario with signs on oropharyngeal exam
 Tx: immediate abscess drainage via needle aspiration with culture/empiric antibiotics
o GAS and respiratory organisms should be covered

2432: Laryngomalacia
 Presentation: otherwise health infant (4-8mo most commonly) with stridor/”noisy breathing”
worsening when supine/feeding/URI & improving when prone or upright
o GERD symptoms are very common
 Pathophysiology: laxity of the supraglottic structures
 Dx: presentation + direct or flexible laryngoscopy (omega-shape epiglottis, collapse of supraglotic
structures during inspiration)
 Tx: spontaneous resolution by 18mo with normal function until then
o If severe: surgical supraglottoplasty
o Appropriate treatment of GERD symptoms should always be attended to

Pulmonary/Critical Care
2466/3531/3830/3926/4030/4183/4187/8952: Cystic Fibrosis
 Presentation: extremely wide-spread effects throughout multiple organ systems
o Disrupted Growth: early normal growth  deceleration of weight gain  deceleration of
length (poor feeding, poor absorption, recurrent sinopulmonary illness, etc.)
o Respiratory: chronic rhinosinusitis/nasal polyps, wheezing, extremely thick mucous, pan-
opacification of sinuses on X-ray, obstructive lung disease  bronchiectasis/”barrel chest” with
distant breath sounds, recurrent pneumonia
o GI: meconium ileus (inspissated meconium), pancreatic insufficiency/fibrosis with exocrine
dysfunction/pancreatitis (25%) (thick secretions/blockage  steatorrhea, AEDK deficiencies 
FFT, poor growth/development, epistaxis/easy bruising often of extremities) & endocrine
dysfunction (Diabetes, 25%), biliary cirrhosis/liver failure, anal prolapse
 o Heme: Vitamin K deficiency (lack of Factors V, VII, IX, X & protein C/S) = bleeding diathesis
o Renal: nephrolithiasis/nephrocalcinosis (fat malabsorption  sequrestration of gut Ca2+ 
increased free oxalate  oxalic acid hyper-absorption  hyperoxaluria  Ca2+ oxalate stones)
o Repro: men (infertility from obstructive azoospermia >95%; congenital absence of Vas
deferens; failure of canalization due to inspissated mucus in genital tract; sperm production
normal), women (infertility 20%; thick cervical mucous, secondary amenorrhea from nutritional
deficiency)
o MSK: osteopenia/fractures/kyphoscoliosis (Vit. D deficiency), digital clubbing (lung dx)
o Ears: hearing impairment (50%) secondary to ototoxic Abx (aminoglycosides for Pseudomonas)
 Pathophysiology: mutation of CFTR (cystic fibrosis transmembrane conductance regulator) protein
(chrom. 7) = defective Na/Cl transporter causes inadequate passage of water into mucous secretions
 extremely viscous secretions of lungs/GI/UG systems
o The most common autosomal disorder of white people
o ∆F508 mutation most common; but many different mutations are possible
 Micro: recurrent pneumonia most commonly features S.aureus (0-20yr) or Pseudomonas (+20yr);
sometimes fungal infections of the lungs can occur as well (Aspergillus most common)
 Imaging: CXR may be indicated for pulmonary disease, abdominal x-ray/enema for GI disease
 Dx: clinical presentation +/- specific mutation for CF
 Newborn Screening: sweat chloride test (elevated sweat chloride), immunoreactive trypsinogen assay
(trypsinogen in pancreas is poorly release, thus backs up into blood)
 Tx:
o Lung Problems: chest physiotherapy, bronchodilators, corticosteroids, DNA-ase
 Lung transplant is an option for very severe disease
o Caloric supplementation: offset high metabolic demand & malabsorption
o Pancreatic insufficiency: AEDK & pancreatic enzyme supplementation +/- diabetes treatment
 Pancreas transplant is an option for severe disease
o Liver failure: liver transplant
o Empiric Abx for pneumonia: Cefepime (covers MSSA/Pseudomonas) + Vancomycin (MRSA)
 Fungal Pneumonia: itraconazole or voriconazole (Aspirgillus)
 Prophylaxis: Azithromycin or Ibuprofen (decreased inflammation & to slows
development of bronchiectasis)
o Nasal polyps: intranasal corticosteroids or surgical removal

4638/4699: Anaphylaxis
 Presentation: sudden development of respiratory distress, hoarseness, & urticarial following some
food/substance exposure
 Pathophysiology: abnormal immunologic response to certain normally tolerated proteins; pre-formed
IgE antibodies against these proteins results in rapid Type 1 reaction anaphylaxis (bronchoconstriction,
wide-spread inflammation and vasodilation/edema/hypotension) when encountered
 Dx: presentation
 Tx: IM epinephrine (Epi-pin)
o B2 agonist activity – bronchodilation & decrease in inflammatory mediator release
o A1 agonist activity – vasoconstriction (minimize upper airway edema)
o Pts should carry a rapid injection of IM epinephrine on them at all times
o If Bee-Sting (hymenoptra) allergy is cause of anaphylaxis  venom immunotherapy from an
allergist can be done to decrease anaphylaxis risk from 30%  5%
4617/3027: Asthma Classification and Treatment
 Intermittent: daytime symptoms <2x week | nighttime symptoms <2x month | short-acting B-agonist
use <2x week with normal baseline PFTs and no impairment of function
o Tx: PRN albuterol
 Mild Persistent: symptoms >2x week but NOT daily | nighttime symptoms 3-4x month | normal PFTs
baseline with minor limitations of activities
o Tx: PRN albuterol, inhaled corticosteroid
 Moderate Persistent: daily symptoms, weekly nighttime awakenings, moderate limitation of activities,
with FEV1 60-80% predicted value
o Tx: PRN albuterol, inhaled corticosteroid, inhaled LABA
 Severe Persistent: symptoms throughout day, frequent nighttime awakenings, very limited activity,
FEV1 <60% predicted value
o Tx: PRN albuterol, high-dose inhaled corticosteroid, inhaled LABA, +/- oral prednisone

4105/4706: Acute Asthma Exacerbation

 Presentation: dyspnea, SOB, cough, accessory respiratory muscle use, difficulty speaking,
hyperventilation/tachypnea (respiratory alkalosis, low PaCO2), lung hyperinflation, tachycardia
 Pathophysiology: airway reactivity toward some irritant results in acute inflammation,
bronchoconstriction, and mucus plugging causing a failure of ventilation
o Common irritants are dust mites, animal dander, smoke, pollution, allergens, URIs, GERD,
exercise, Aspirin (AERD)/medications, or many other things
o Exacerbations cause an acute release of IgE causing inflammation/fluid accumulation/
pulmonary constriction/mucus production
o 2-4hr after an exacerbation, the Late-Phase Reaction (LPR) occurs allowing for inflammatory
WBC infiltration, ultimately resulting in more long-term airway hyper-responsiveness
 Labs: blood gas, O2 monitoring
 Dx: clinical signs/symptoms with history of asthma; concerns for airway collapse are following:
o Drowsiness/lack of breath sounds – person is failing to move air (likely severe obstruction) and
retaining CO2 causing altered mental consciousness
o Normal PaCO2 on arterial blood gas – everyone will hyperventilate, BUT if they’re so fatigued
from the attack that they’re starting to wear out, they can no longer hyperventilate, PaCO2 will
go back to normal and they’re getting towards the point where they’ll stop breathing from
fatigue.
 Tx:
o Assess ABCs  does patient need oxygen? Intubation?
o SABA (albuterol)  +IV corticosteroid (prednisone)  +ipratropium nebulizer  +one-time IV
infusion of magnesium sulfate (after 1-hr without response to other therapies) 
intubation/mechanical ventilation
 Wheezes may actually increase as air starts to move again
 Note that B-agonists will halt acute reactivity, but fail to stop late-phase reactions and
the subsequent airway hyper-responsiveness

4335: Asthma exacerbation due to GERD

 Presentation: recent worsening of asthma symptoms with normal lung exam. Often sore throat,
morning hoarseness, worsening cough when laying down (at night is common), need for inhaler
following meals, dysphagia, chest pain/heartburn, regurgitation sensation
 o Result of microaspirations causing irritation and vagal hypersensitivity resulting in proclivity to
bronchospasm
o Often coincides with weight gain (possibly due to a stomach ulcer!)
 Tx: PPI trial

3050: Exercise Induced Bronchoconstriction

 Presentation: Bronchoconstriction/difficulty breathing often triggered by high volumes of dry, cold air.
o Classically occurs in athletes with current or previous diagnosis of asthma!
 Tx:
o First line: Albuterol (short acting B-agonist) inhaler 10-20 before exercise
o Second line: Anti-leukotriene inhaler 15-20 minutes before exercise (cannot tolerate albuterol!)
o Can be combined in high-performance athletes

2842/4065: Aspirin-Exacerbated Respiratory Disease (AERD)

 Presentation: asthmatic symptoms (cough, wheezing, chest tightness), allergic symptoms (chest
congestion, rhinorrhea, periorbital edema), and facial flushing within 30 min – 3hr of NSAID use
o Associated with Nasal polyp, asthma, and chronic rhinosinusitis
o Very similar to allergic/asthmatic flare-up, thus symptoms may not be attributed to NSAID
o Nasal polyp development can cause bland tasting food (caused by anosmia), recurrent nasal
discharge with grey-glistening mucoid mass in the nasal canal.
o Considered a pseudo-allergic reaction that is not IgE mediated. Instead the aspirin diverts the
arachidonic acid pathway to produce high amounts of leukotrienes = inflammation
 Dx: Clinical scenario

3531/3974: Primary Ciliary Dyskinesia (Kartagener Syndrome)

 Presentation:
o Pulmonary: nasal polyps, chronic sinopulmonary infections, bronchiectasis
o Cardiac: situs inversus/dextrocardia (50%; displaced PMI on right)
o MSK: digital clubbing; normal growth
o Repro: infertility (immotile spermatozoa)
 Pathophysiology: autosomal recessive mutation in cilia dynein arms  absent/immotile cilia causing
poor mucociliary clearance & other symptoms of disease
 Labs: low nasal nitric oxide levels
 Imaging: bronchoscopy (direct view of poor mucociliary clearance) or electron microscopy (directly
view lack of cilia movement)
 Dx: presentation + labs/genetic analysis/imaging
 Tx: ???

4753/4467/12419: Pleural Effusion

 Basically a transudate or exudate moving form the lung airspace into the lung pleural cavity
 Transudate – the result of increased hydrostatic or decreased oncotic pressure. Requires no further
workup outside of treatment of underlying condition causing the exudate
 Exudate – due to inflammation/irritation of the pleural lining. Defined by the Light Criteria (having only
ONE of these three means its an exudate):
o Fluid Protein/Serum protein ratio >0.5  high protein in fluid
o Fluid LDH/Serum LDH >0.6  high LDH level in fluid
o Pleural LDH >2/3 the upper limit of normal serum LDH  high LDH in fluid
 o Note that low glucose (<60mg/dL) is a classic sign of WBCs/bacteria using the glucose for
energy, denoting another sign for exudate. <30mg/dL is highly suggestive of empyema!
 Don’t forget! If the pleural fluid shows exudate, that often means there’s an infection and local
cytokine release has increased capillary permeability to allow for WBC transit!

4087: Malignancy Pleural Effusion

 Presentation: progressive SOB with signs of malignancy (weight loss, fatigue, etc) and consolidation
that eliminates the costo-vertebral angle on CXR
o Typically, due to Lung carcinoma, Breast Carcinoma, or Lymphoma
 Dx: diagnostic thoracocentesis with pleural fluid analysis
o Biggest first step is transudate vs exudate (Light’s Criteria)
o May show malignant cells indicating underlying cancer
 Tx: drainage of fluid with treatment of underlying cancer

12419: Chylothorax Pleural Effusion

 Presentation: pleural effusion (increased work of breathing, tachypnea, hypoxia, percussion dullness)
 Pathophysiology: obstruction/disruption of lymphatic outflow causes buildup of chyle in pleura
 Etiology: surgical/accidental trauma, congenital malformation, Down syndrome/Noonan syndrome,
malignant obstruction of lymphatic tracts
 Dx: thoracocentesis with pleural fluid analysis (milky-white exudative effusion with predominant
lymphocytes and triglycerides
 Tx: drainage of effusion + chest tube + limitation of dietary fat +/- thoracic duct ligation

4829: Thymus on CXR

 The Thymus is a pediatric organ responsible for development/maturation of T-lymphocytes
 It’s located in the anterior mediastinum behind the sternum and in front of the heart
 In children <3yr, the thymus can be seen on CXR as a uniform mass in the upper thorax, often
appearing as a triangular extension of the cardiac silhouette (sail sign)
o The thymus often shrinks during illness and undergoes rebound hyperplasia after recovery!

3457: If you ever get a child with severe coughing fits and you note subcutaneous emphysema (crackles) of the
anterior chest  always get a CXR immediately to rule out pneumothorax

2473/4831: Respiratory Distress Disease (Hyaline Membrane Disease)

 Risk Factors: prematurity, maternal diabetes, very low birth weight (<1500g), C-section without labor,
perinatal asphyxia, male sex, Caucasian race
 Presentation: tachypnea, intercostal retractions, grunting, nasal flaring, & cyanosis at birth
o Acute complications – pneumothorax, pulmonary interstitial emphysema, hemorrhage, sepsis,
persistent PDA
o Chronic complications – bronchopulmonary dysplasia (progressive pathologic dysplasia of lung
tissue requiring prolonged ventilatory support from failure for lung tissue to mature) &
retinopathy of prematurity (early supplemental oxygen gets eyes ‘used to’ high O2 levels;
withdrawal causes retinal vascular hyperplasia  worry of hemorrhage/bleeding into eye)
 Pathophysiology: inadequate surfactant production  alveolar collapse  respiratory failure
o Prematurity results in inadequate amount of surfactant (begins at wk 23-24 but not enough
produced until week 32 for proper function)
o Maternal diabetes/hyperglycemia  neonatal hypoglycemia  neonatal hyperinsulinemia 
insulin antagonizes cortisol blocking maturation of sphingomyelin (vital part of surfactant)
 o C-section without labor results in decreased stress on neonate  decreased cortisol
 Labs:
o Pre-natal Lecithin:Sphingomyelin ratio – higher ratios point to more mature lungs
o Pre-natal phosphatidylglycerol detection – a phospholipid component of surfactant. Presence
is the best indicator of fetal lung maturity
 Imaging: CXR (diffuse ground-glass opacities + air bronchograms)
 Dx: presentation + CXR/pre-natal labs
 Tx: maternal antenatal corticosteroids (speed surfactant production) + respiratory support (early CPAP
or intubation if severe + supplemental oxygen) + exogenous surfactant till lungs mature

2473: Other Causes of Respiratory Distress in a Newborn

Persistent Pulmonary Hypertension of the Newborn
 Presentation: variable respiratory distress & cyanosis due to any non-heart malformations
o Commonly occurs in term/post-term babies
 Pathophysiology: increased Right-to-Left shunting due to increased pulmonary resistance = hypoxemia
 Imaging: CXR (clear lungs with decreased pulm. vasculature), echocardiogram (rule out heart defects)
 Tx: respiratory support (O2, PEEP, intubation, ECMO) & nitric oxide to cause pulmonary vasodilation
Transient Tachypnea of the Newborn
 Presentation: respiratory distress in the newborn with tachypnea resolving by day 2 of life
 Pathophysiology: inadequate pulmonary fluid clearance at birth  pulmonary mild edema
 Imaging: CXR (bilateral perihilar streaking)
Meconium Aspiration Syndrome
 Presentation: aspiration of meconium causing respiratory distress/respiratory failure
 Pathophysiology: in-utero distress can result in passage of meconium manifested as meconium-
stained amniotic fluid (can be slightly green  thick ‘pea soup’ stuff). This meconium in the amniotic
fluid can be ‘gulped’ and aspirated into the lungs
 Workup: examination of amniotic fluid (shows meconium staining), CXR (increase lung volume with
diffuse patches of atelectasis), sometimes pneumothorax/pneumomediastinum can occur
 Tx: suction of the perineum/trachea to remove as much meconium as possible. Respiratory support if
needed.

2435/DiV: Congenital Diaphragmatic Hernia

Differential Dx:
 Transient Tachypnea of Newborn: most common cause of respiratory distress in term babies; residual
pulmonary fluid remains in lungs after birth
o Benign and should only last hours-days
o CXR: diffuse pulmonary infiltrates + “wet silhouette” around the heart
 Hyaline membrane disease (Respiratory distress syndrome): most common cause in premies
o Poor surfactant production in premature Type II alveolar cells
o CXR: homogenous pulmonary infiltrates + ‘air bronchograms’
 Meconium aspiration syndrome: meconium stained amniotic fluid will be noted at birth
 Persistent pulmonary HTN, bronchial atresia, pulmonary agenesis, pneumonia, and non-pulmonary
etiologies are less common but possible
Presentation
 Prenatal Screening: will be picked up at the latest around 24wk gestation on ultrasound (bowel loops
in thoracic cavity, contralateral displacement of heart/mediastinum)
 Displaced heartbeat: loops of bowel is moving the heart/mediastinum away from hernia
  Tachypnea/tachycardia/absent breath sounds/bowel sounds in chest: displacement/poor
development of lung tissue from infiltrating bowel causing respiratory distress/poor formed lung tissue
 Scaphoid abdomen/ Barrel shaped chest: loops of bowel moving out of abdomen and into the chest
 Supracostal retractions/grunting: sign of severe respiratory distress/impending cardiovascular
collapse. Baby should be intubated and placed on mechanical ventilation.
Pathophysiology
 Failure of the septum transversum to divide the pleural & coelomic cavities during development
(typically finished by week 12) allows for bowel herniation during critical lung development resulting in
lung hypoplasia.
 Mediastinal shifting also causes compression of the contralateral lung
 When the baby takes their first breath; normally pulmonary circuit pressure goes from high resistance
 low resistance, allowing for pressure changes in the heart to allow for adult circulation to be
established (closure of foramen ovale, ductus arteriosis, etc.)
 Lung hypoplasia + contralateral lung compression keeps pulmonary vasculature resistance high.
Resultant hypoxemia/acidosis/hypotension cause pulmonary vasoconstriction, further worsening flow
into the pulmonary circuit
 The poor pulmonary flow results in acute respiratory distress/hypoxemia/retention of CO 2
Anatomy
 Side of defect: Left side most common (85%), right side (10%), and bilateral (5%) is most rare.
 Portion of diaphragm affected:
o Bochdalek hernia: posteriolateral defect (most common; cause classic symptoms)
o Morgagni hernia: parasternal or retrostenal (rare; often no pulmonary problems, but
symptoms of bowel obstruction)
o Diaphragmatic eventration: thinning of intact diaphragm due to poor muscularization (rare!)
o Diaphragmatic agenesis: no diaphragm; very severe
 Many children have additional accompanying anatomical defects (malrotation/non-rotation, ASD/VSD,
horseshoe kidney, polydactyly, NTDs, hydrocephalus, Trisomeies, etc.)
Workup
 Child unstable  immediate intubation
 Child stable or recently intubated  undergo NGT/OGT tube placement
 NGT tube placement where NGT fails to pass  Choanal atresia
 NGT/OGT passes past pharynx + CXR
o Tube won’t pass through esophagus + gas in abdomen  esophageal atresia + TEF
o Tube won’t pass through esophagus & no gas in abdomen  esophageal atresia & no TEF
o Tube in stomach but abdominal contents in thorax  CDH
o Tube in stomach with normal abdomen  cystic lung lesion or bronchopulmonary sequester
Prognosis
 Survival rate between 60-80% and directly correlates with degree of hypoplasia
Management
 First Step: intubate if in respiratory distress
o Best to intubate immediately without bag-mask oxygen delivery, as the air rush of the bag-mask
can cause significant barotrauma to the already poorly functioning lung tissue & cause
increased air distension of the invading bowel
 Second Step: placement of NGT/OGT with suction to decompress stomach (open up more space for
compressed lungs) & search for atresias
 Third step: admission to NICU with proper blood pressure/ventilator support
o FiO2 100%; PEEP at 3-5cmH2O; permissive hypercarbia (PCO2 <60mmHg) and O2 saturation
levels between 80-95% are acceptable to minimize barotrauma of aggressive ventillation
 o Nitric oxide inhalation may be used to decreased pulmonary HTN
o Extracorporeal membrane oxygenation (ECMO) may be used if child is refractory to these things
 Surgical Repair of Defect: delayed until evidence of lung maturation in NICU (simply with time and
support). Whenever pt is being weened down on vent settings, surgery can be considered.
 Work-up for further congenital anomalies is also warranted

Endocrine, Diabetes, Metabolism

2171/2184: Diabetic Ketoacidosis (DKA)
 Often can be the initial presentation of a young person with Type I diabetes mellitus. Often pt will
have weight loss/polydipsia and be able to compensate by simply drinking more. However, anything
disrupting oral intake (recent illness) can throw this off and send them into DKA
 Presentation: polydipsia/polyuria, burred vision, weight loss, altered mentation, hyperventilation,
abdominal pain
o Labs: hyperglycemia (250-500s), bicarb <18 (acidosis), elevated anion gap, (+)serum ketones
 Dx: presentation with specific labs
 Tx: High-flow IV fluids, IV insulin, close watch/replacement of potassium
o Note the ketone level (B-hydroxybutryate) or anion gap are the best methods by which you
track response to treatment

4247/4514: Hyperkalemia in DKA [HIGH YIELD]

 When DKA occurs, pts often show paradoxical hyperkalemia due to 1extra-cellular shift of K in
exchange for H+ ions to limit the acidosis and 2impaired K+ entry into cells due to low insulin levels
(insulin helps K+ enter into cells
o Called “paradoxical” because the body is actually wasting K+, and overall levels are low,
however serum concerntration is high due to extracellular shift
 Thus pts in DKA should be given supplemental K+, insulin, and IV fluids because once insulin is on
board, the K+ level can tank quickly, unless it’s very high

3662/3721: Congenital Hypothyroidism

 Presentation: initially normal (mom’s thyroid hormone still present) with gradual development of
apathy, sluggish movement, weakness, hypotonia, macroglossia (large tongue), abdominal bloating,
umbilical hernia +/- jaundice, difficult breathing, hoarse/weak cry, dry skin, poor feeding, hypothermia,
or persistent macrocytic anemia
o Cretinism: severely stunted growth/mental retardation from maternal hypothyroidism in-utero
or failure to replete thyroid hormone; will be obvious at birth (mom’s thyroid hormone was
never present) or with development (thyroid hormone not replaced)
 Pathophysiology: thyroid dysgenesis (aplasia, hypoplasia, or ectopic gland; 85%), error of thyroixin
synthesis (10%), or maternal trans-placental thyrotropin-receptor blocking antibodies (5%)
 Screening: mandated neonatal T4 (low)/TSH (high) levels
 Dx: presentation or (+) screening test
 Tx: levothyroxine (10mcg/kg titrated up as needed)

3867/3868/3875: Precocious Puberty

 Presentation: premature adrenarche (body odor, oily hair/skin, acne, increased appetite), pubarche
(axially/pubic hair growth), premature menarche, & secondary sexual characteristics before age 8
(girls) or 9 (boys)
o Most common in African American and Hispanic children
o Complications: PCOS, Type II DM, metabolic syndrome
  Pathophysiology:
o Peripheral: activation of the gonads outside of the HPG axis (low FSH/LH)
 Typically caused by functional peripheral tumor (adrenals or gonads)
o Central: premature activation of the HPG axis (high FSH/LH)
 Typically idiopathic (80%) but may be driven by functional brain tumor
o Obesity: large adipocytes in childhood obesity drive increased insulin & leptin secretion
 Insulin stimulates adrenal activation (adrenarche) & ovarian estrogen production
(thelarche) stimulating peripheral activation
 Leptin weakly stimulate the HPG axis increasing FSH/LH causing central activation
 Labs:
o Common: advanced bone age
o Central: high basal or post-GnRH stimulation test FSH/LH, high estrogen/testosterone,
o Peripheral: low FSH/LH, increased DHEA-S
 Imaging: MRI brain (if central), ultrasound adrenals/gonads (if peripheral)
 Dx: presentation + labs/imaging
o If bone-age is normal, then presentation may be isolated adrenarche/thelarche/etc. and NOT
precocious puberty
 Tx:
o Central/no tumors: GnRH agonists (inhibitory feedback) to maximize growth potential
o Tumor (central or peripheral): surgical resection

3600/4239: Congenital Adrenal Hyperplasia (Andrenogenital Syndrome)

 Cortisol deficiency resulting in bilateral growth of adrenal glands
o Cortisol is the major negative feedback drug in the HPA axis (constant stimulation from ACTH
on the adrenals)
o Results in marked thickening/lobulation of adrenal glands
o Often due to a key enzyme deficiency
 21-hydroxylase deficiency (impaired aldosterone/cortisol production; 90%)
o Classical presentation (Neonatal)
 Virilization/ambiguous genitals (females) due to androgen exposure
 Hypernatremia/hyperkalemia/hypovolemia/life-threatening hypotension due to
impaired mineralocorticoid production
o Non-classical presentation (Childhood)
 Precocious puberty (males) or hirsutism/irregular menstruation (females)
 Normal electrolytes & blood pressure
 Later in life  diagnosed with ACTH stimulation test/17hydroxyprogesterone test
o Pathophysiology: Most common (90%) due to mutation in CYP21A2 gene
 Steroidogenesis shunting toward androgens because aldo/cort production is blocked
 High 17-hydroxyprogesterone level
 11B-hydroxylase deficiency (impaired aldosterone/cortisol production; 9%)
o Presentation:
 Virilization (shunting toward androgen production)
 HTN (hypernatremia/mild hypokalemia because 11-DOC is a weak mineralocorticoid)
o Labs: low renin/angiotensin/aldosterone/cortisol; mild hypernatremia/mild hypokalemia
 High 11-deoxycorticosterone (11-DOC) & 11-deoxycortisol
 17a-hydroxylase deficiency (impaired cortisol/androgen production; 1%)
o Presentation
  Pseudohemaphodism or phenotypic female (boys) or primary amenorrhea/no pubic hair
(girls) due to loss of androgen production
 Severe HTN (hypernatriemia/hypokalemia) due to shunting to aldosterone production
o Labs: low renin/angiotensin/aldosterone/cortisol; mild hypernatremia/mild hypokalemia
 High corticosterone (weak mineralocorticoid)
 3B-hydroxysteroid dehydrogenase (<1%)
o extremely rare form causing failure of all adrenal hormone production
o High 17-hydroxypregnenolone
 Screening:
o Increased 17-hydroxyprogesterone levels = 21 or 11-hydroxylase
o Decreased 17-hydroxyprogesterone levels = 17-hydroxylase
 Treatment:
o Replace what’s missing – glucocorticoids (all) with mineralocoticoids (21) or sex steroids (17)

Pathways of Adrenal Steroidogenesis

Female Reproductive System
3543/4142/4764/4765/9563/9566: Turner’s Syndrome
 Presentation:
o MSK: short stature, shield/square chest, widely spaced nipples, decreased bone mineral
desnsity/fractures, cubitus valgus (forearm is angled away from body), narrow/high-arched
palate, low hairline, nail dysplasia
o Cardiovascular: bicuspid aortic valve, aortic coarctation, aortic root dilation/dissection risk
o Lymphatics: webbed neck (lymphatic malformation), congenital lymphedema
o Renal: horseshoe kidney
o Repro: delayed puberty, primary amenorrhea or normal puberty with early menopause,
infertility, infantile uterus, absent thelarce, primary ovarian dysgenesis (‘streak ovaries’)
 Complications
o Decreased breast cancer but increased other cancers (meningioma & gonadoblastoma)
o Osteoporosis (lack of protective estrogen)
 Pathophysiology: complete or partial deletion of one X-chromosome in a female (45X0 or Mosaic)
o Short stature result of lost X-chromosome, NOT GH deficiency
o Primary ovarian dysgenesis  lack of sex hormones  “menopause before menarche”
 Labs: hormonal studies (decreased estrogen/progesterone, high FSH/LH, low Inhibin A, normal GH)
 Imaging: Echocardiography or Thoracic MRI (assess aortic valve & aorta); Pelvic ultrasound (streak
ovaries)
 Dx: karyotype (30 blood lymphocytes showing 45X) or fluorescence in-situ hybridization (45X/46XX
mosaic) if clinical phenotype is present but karyotype is normal or chromosomal microarray to detect
mosaic chromosomal imbalance
o Buccal swab for Barr Bodies is an old test that is outdated by modern techniques
 Tx: Hormone replacement (GH, estrogen, testosterone) & Vit. D/Ca2+ supplement (help offset
osteoporosis) + addressing any other issues (cardiac, renal, lymphatic, etc.)

4830: Constitutional Growth Delay

 Presentation: normal birth height/length/head circumference  “dropping off” of growth velocity
between age 6mo – 3yr  normal growth tracking around the 5-10% until puberty  late puberty
with normal growth spurt and normal adult height
o The most common cause of childhood short stature and puberty delay
 Pathophysiology: slower rate of maturation of the hypothalamus
 Labs: Bone age younger than chronologic age
 Dx: presentation + labs
 Tx: reassurance and continued follow-up to ensure normal growth
o Hypothyroidism will show an abrupt drop off in growth when it develops; usually doesn’t occur
at the young age that Growth Delay will occur
o Pts are not deficient in sex hormones or GH, thus supplementation is not needed

8871: Refeeding Syndrome

 Presentation:
o K/Mg Deficiency: Arrhythmias (sustained V.Tach), CHF (SOB/JVD/edema), Seizures
o Thiamine Deficiency: Wernicke’s Encephalopathy (retrograde/anterograde amnesia,
confabulation, rotational nystagmus)
 Pathophysiology:
 o Catabolic (starvation): Decreased insulin/increased glucagon & cortisol  ketone body use in
brain  glycogenolysis/lipolysis/protein catabolism  depletion of fat, minerals, vitamins, and
intracellular electrolyes
o Anabolic (re-feeding): Insulin surge  abrupt glycogen synthesis (sugar), protein synthesis
(amino acids), & intracellular uptake of Phos (ATP)/K/Mg/thiamine (DNA)  precipitous drop in
serum phos/K/Mg/thiamine  metabolic derangements
 Dx: presentation
 Tx: slow re-feeding (oral or parenteral) with aggressive electrolyte resuscitation to prevent

4242: Fibroadenoma
 Presentation: firm, rubbery, single, unilateral, mobile breast mass, typically in the upper/outer
quadrant of the breast
o Typically, tenderness/size increase just prior to menses (estrogen responsive)
 Workup
o Child/adolescent – serial examinations throughout menstrual cycle; if decreasing in
size/tenderness after menses, be reassured as it’s likely benign
o Young adult or persistent mass – breast ultrasonography (breast tissue often too dense to be
well assessed by mammogram
o Adult – mammogram

3773/4244: Maternal Withdrawal of Estrogen

 Presentation: neonatal vaginal discharge/bleeding, breast buds (boys & girls), vaginal engorgement
 Pathophysiology: maternal estrogen crosses placenta  neonatal uterine lining grows  after birth,
withdrawal from estrogen causes sloughing & resolution within a few days
 Dx: presentation
 Tx: reassurance, observation, & routine neonatal care

4870: Vaginal Foreign Body

 Presentation: foul vaginal discharge, vaginal bleeding or spotting, pelvic discomfort, urinary complaints
o Examination of the genitals in knee-to-chest or frog-leg positions for obvious foreign bodies
o NEVER do a pelvic exam on a pre-pubertal child (extremely painful, risk of hymen perforation)
 Pathophys: toilet paper (most common), small toys/objects cause irritation
 Imaging: CT pelvis may be needed if foreign body is not visualized on physical exam
 Dx: presentation + visualization of foreign body
 Tx: topical anesthetic + calcium alginate swab or warm saline irrigation
o Examination under Anesthesia + removal may be needed with larger objects or if above
techniques are unsuccessful
Dysmenorrhea
 Primary – excessively painful menstruation (disrupting normal activities) without discernable
underlying pathology; commonly occurs in young women
o Pathophys: release of prostaglandins causing intense uterine contractions (physiologically to
clamp spiral arteries to slough off endometrium)
o Tx: NSAIDs (first line); prostaglandin synthase inhibitors (2nd line)
 Secondary – excessively painful menstruation due to some underlying pathology (often pt previously
had normal menstrual pain/bleeding)
o Endometriosis – endometrium outside of the uterus; often presents with uterosacral nodularity
(growth of extrauterine endometrium) and adnexal tenderness preceding menses by 1-2 days
 o Adenomyosis – endometrium growing into the myometrium of the uterus; often presents with
boggy/globular/tender/enlarged uterus
o Pelvic infection – cervical motion tenderness/purulent cervical discharge + infection signs
o Uterine leimyomata (fibroids) – abnormal growth of endometrial smooth muscle; associated
with heavy bleeding and irregular/lumpy uterine contour

2388/9566: Amenorrhea
 Primary – pt aged >15yr has never had a menstrual period
o Pelvic ultrasound  uterus or no uterus
 Uterus  Serum FSH  increased or decreased?
 Increased  concern of gonadal dysgenesis  karyotype
 Decreased  concern of central dysregulation  MRI brain
 No Uterus  Karyotype + testosterone
 46XX & female testosterone level  Muellerian dysgenesis
 46XY & male testosterone level  Androgen insensitivity syndrome
 Secondary – pt has menstruated but has now ceased
o Let the search for an underlying cause begin

4217: Complete Androgen Insensitivity Syndrome

 Presentation: primary amenorrhea despite normal female phenotype, absent uterus/ovaries, short
vagina (distal 1/3 present), larger than average breasts, no pubic or axillary hair, cryptorchid palpable
testes in labia or present in inguinal canal/abdomen, no penis/scrotum
o Complications: dysgerminoma/gonadoblastoma (5% risk)
 Pathophys: XY male with X-linked mutation in androgen receptor, thus developing as a female
phenotypically; high testosterone is aromatized peripherally allowing for estrogen driven development
 Tx: testicular removal post-puberty (allow for attainment of adult height, then remove due to risk of
malignant transformation in gonads) + post-op estrogen replacement + psychosocial counselling
o Pre-puberty gonad removal may be done if concern for cancer presence (large mass, enlarging
mass, B-signs of cancer, +imaging, or +tumor markers)

3911: Müellerian Agenesis (Mayer-Rokitanski-Küster-Hauser Syndrome)

 Presentation: female phenotype, normal secondary sexual characteristics (breasts, hips, axillary/pubic
hair), regular functioning ovaries, primary amenorrhea, short vagina, absent uterus/cervix/upper vag.
 Pathophysiology: 46XX genotype with failure of Muellerian ducts to form proper internal female
genitals; gonads and external sexual anatomy are normal
 Imaging: pelvic ultrasound showing abnormal internal gentials
 Dx: presentation + imaging
 Tx: ???

2390: Abnormal Uterine Bleeding

 Teens  immature HPA axis causing cycles of anovulation followed by heavy bleeding
 If stable: high-dose combined OCPs or high dose progestin (if contraindication to estrogen)
 If unstable: emergency D&C

3241: Emergency Contraception

 Copper IUD: copper-induced inflammatory reaction killing sperm/ova & stopping implantation;
effective 0-120hr following intercourse with 99% efficacy
 Ulipristal Pill: anti-progestin (delays ovulation); effective 0-120hr after intercourse with >85% efficacy
  Levonorgestrel pill/OCPs: progestin (delays ovulation); effective 0-72hr after sex with 85% & 75%
efficacy (respectively)

4230: Granulosa Cell Tumor of Ovary

 Presentation:
o Child: precocious puberty (begins <8yr), leukorrhea, large adnexal mass
o Adult: abnormal uterine bleeding, endometrial hyperplasia, large adnexal mass
 Pathophysiology: malignant estrogen producing neoplasm
 Labs: elevated estrogen levels
 Imaging: pelvic ultrasound (shows adnexal mass/thickened endometrium)
 Dx: presentation + labs/imaging
 Tx: surgical removal

Cardiovascular
3546: Innocent Heart Murmurs
 Presentation: heart murmur with normal appetite/energy/growth patterns/activity, no significant
family history, & structurally normal heart
o Typically maneuvers that decreased blood return to the heart (Valsalva, sudden standing)
decrease the intensity of the murmur
o Nearly 50% of children will have a benign (‘innocent’ or ‘functional’) physiologic heart murmur
 Types of Murmurs
o Still’s Murmur: Grade I-III/VI at Left Mid-sternal border vibratory/twanging/buzzing murmur
loudest when supine or exercising
o Pulmonic Ejection Murmur: Grade I-II/VI upper left sternal border blowing/high-pitched
systolic murmur loudest when supine or exercising
o Venous Hum: continuous murmur heard at the neck/infraclavicular regions due to ‘buzzing’ of
the jugular vein; only appreciated when pt is sitting or standing, but disappears when supine
 Pathophysiology: simply caused by turbulent blood flow in the growing heart tissue
 Dx: presentation
 Tx: reassurance

4497: Vascular Ring/Pulmonary Artery Sling

 Presentation: symptoms onset age <1 and depend on structure compressed
o Tracheal: coughing, wheezing, and biphasic stridor (expiration > inspiration; not relieved with
albuterol or epinephrine; improves with neck extension)
o Esophageal: dysphagia, difficulty feeding, vomiting
o Other cardiac defect: may show murmur (up to 50%)
 Anatomy:
o Complete Vascular Ring – formation of double aortic arch or other anomaly that wraps
circumferentially around surrounding structures
o Aberrant Aortic Vessel – aortic vessel branches off earlier than normal running against
surrounding structures
o Pulmonary Artery Sling – L. pulmonary artery aberrantly runs between the trachea/esophagus
 Pathophysiology: abnormal development of aortic arch or other major vessels resulting in vasculature
wrapping around & compressing the trachea, bronchi, and/or the esophagus
 Imaging: ultrasound or X-ray may show aberrant vessels
 Dx: presentation
 Tx: surgical correction
4826: Post-Pericardectomy Syndrome
 Presentation: abdominal pain/vomiting/decreased appetite (infants); pericardial friction rub/pleuritic
chest pain exacerbated by laying supine (older kids) in kids with Hx cardiac surgery
o Cardiac Tamponade: Beck’s triad (hypotension, JVD or scalp veins in infants, muffled heart
sounds), tachycardia, narrowed stroke volume, hepatojugular reflex, pulsus paradoxus, &
electrical alterans; CXR shows cardiomegaly
o Pleural Effusion: SOB, chest pain; CXR shows blunted costovertebral angles
 Pathophysiology: inflammation from tissue damage during surgery leads to reactive pericarditis or
pleuritis  fluid accumulation within those tissues
 Dx: presentation
 Tx: supportive care + addressing any emergent complications

4854: Myocarditis
 Presentation:
o Viral prodrome/flu-like illness (as most cases are due to viral etiology)  worsening respiratory
distress (progression into heart failure)
o Heart failure (dyspnea, syncope, tachycardia, nausea, vomiting, hepatomegaly)
 Etiology: many, many things
o Viruses (most common): Coxsackie B virus, adenovirus
o Bacteria: C.diptheriae, S.pyogenes, S.aureus, M.tubeculosis
o Fungi: Candida spp., Cryptococcus spp
o Protozoa: T.cruzi (Chagas’ disease)
o Autoimmune: SLE, rheumatic fever. Sarcoidosis
o Kawasaki’s disease
 Pathophysiology: infective infiltration/autoimmune inflammation & damage to myocardiocytes
causing damage  systolic & diastolic dysfunction
 Labs: elevated CRP/ESR, elevated CK-MB
 Imaging: Endomyocardial biopsy (Gold Standard; ID organism or inflammation type), EKG (T-wave/ST-
segment changes, sometimes arrhythmias develop), echocardiogram (global ventricular
dysfunction/hypokensis, decreased ejection fraction), CXR (cardiomegaly, pericardial effusion)
 Dx: presentation + labs + imaging
 Tx: supportive care (diuretics/inotropes) + treatment of underlying etiology; treatment-refractory
cases require heart transplant eventually
o Mortality: newborns (75%; heart is poorly adapted for insult), older children/teens (25%)
o Full recovery (66%) & long-term heart failure (33%)

2678/2688/2691/2711/4673: Hypertrophic Obstructive Cardiomyopathy (HOCM)

 Presentation: young person experiencing dyspnea, chest pains, syncope, chest pain with exertion;
classic reason for young athlete to suddenly collapse and die on the field
o More common in African Americans
o Increased risk of ventricular fibrillation (aberrant myocardium = abnormal conduction)
o May be totally symptomatic (50%) & should be screened for:
 In all sports physicals (history/physical exam)
 If pt has Family Hx of sudden, unexplained death at <50yr (No sports until H&P + EKG)
o Murmur: creshendo-decreshendo murmur best heard on the left, lower sternal border/apex
 Decreased with increased blood in the left atrium
  Sustained handgrip (increased afterload), squatting from standing (increased
afterload/preload) or passive leg raise (increased preload)
 These all increase distention of the ventricle, minimizing outflow obstruction
 Increased with decreased blood in left atrium
 Valsalva, abrupt standing (decreased preload), and nitroglycerin
 All increased obstruction, thus the intensity of the murmur
 Can sound like aortic stenosis; however AS would be quite rare in a young person if they
have no family Hx or risk factors for it.
o Dual Impulse Carotid upstroke may be noted (mid systolic cardiac obstruction) & strong apical
impulse (isolated LVH) may be noted on exam
 Pathophysiology: autosomal dominant mutation typically of myosin binding protein C or cardiac beta-
myosin heavy chain gene resulting in abnormal myocardial hypertrophy in left ventricle/septum
o Physical activity causes increased flow along the narrowed ventricle, which can pull the mitral
valve leaflets into the ventricle creating outflow obstruction
o Outflow obstruction commonly occurs when resting just after physical activity (physiologic
ventricular dilation starts to wane, accentuating the obstruction)
 Imaging: echocardiography (eccentric LVH), EKG (signs of LVH)
 Dx: presentation + imaging
 Tx:
o Everyone: refrain from sports/physical activity
o If symptomatic: CCBs, antiarrythmatics  pacemakers, and surgical myomectomy can all be
used depending on situation

3910: Congenital Long-QT Syndrome

 Presentation: lightheadedness/syncope/palpitations incited by exercise or sudden surprise
o Seizures/sudden death can all also occur (less common)
o Jervell-Lange-Nielsen Syndrome: AR; Long-QT syndrome + sensoneurial deafness
o Romano-Ward Syndrome: AD; Long-QT syndrome (no deafness)
 Pathophysiology: caused by dysfunction of ion-channels responsible for cardiac conduction within the
myocardium; different types are caused by different dysfunction
 Imaging: EKG (shows QT segment >450ms)
 Dx: EKG +/- presentation
 Tx: refrain from vigorous exercise/surprise; Propranolol (class II antiarrhythmic, shortened QT),
pacemaker treatment, & avoidance of QT-prolonging drugs/electrolyte derangements (listed below)

3910: Non-Congenital Causes of QT Prolongation (>450ms)

 Electrolyte derangements: hypocalcemia, hypokalemia, hypomagnesemia
 Abx: floroquinolones, macrolides
 Psychiatric Drugs: all antipsychotics, all SSRIs, all TCAs
 Opioids: methadone, oxycodone
 Antiemetics: ondasetron, granisetron
 Antiarryhmatics: quinidine, procainamide, flecainide, amiodarone, sotalol

4661: Classic Signs Associated with Congenital Heart Defects

 Left to Right Shunting (L-R) – pushing oxygenated blood into the pulmonary circuit often causing
pulmonary HTN and CHF if left untreated
o Tachypnea, poor weight gain, & sweating during feeds are all classic signs
  Right to Left Shunting (R-L) – pushing deoxygenated blood into systemic circuit, lowering the O2
content of the systemic blood
o Central cyanosis is a classic sign
 Interruption of Left Ventricular Outflow – pallor/shock/severe acidosis

[Acyanotic Congenital Heart Disease]

Atrial Septal Defect (ASD)
 Presentation: often is asymptomatic unless involving other structures of the heart
o Ostium Primum defect: less common (20%); defect in lower portion of atrial septum; may
cause malformation of mitral valve anterior leaflet causing mitral regurgitation
o Ostium Secundum defect: most common (70%); defect in middle portion of atrial septum;
often totally asymptomatic + murmur
o Sinus venosus: rare (10%); right pulmonary veins drain into SVC or R.atrium (brings oxygenated
blood from right lung into heart) instead of L.atrium = L-R shunt; asymptomatic + murmur
o Murmur: systolic ejection murmur heard at ULSB (high pulmonic flow) with fixed splitting S2
(always increased filling of R. ventricle) +/- systolic rumble (increased flow across tricuspid)
o Complications: CHF, pulmonary HTN, atrial arrhythmia, paradoxical embolism
 Imaging: echocardiography or CXR (R. atrial enlargement), EKG (R. ventricular hypertrophy)
 Dx: presentation + imaging
 Tx: surgical closure to prevent complications

3990/4705: Ventricular Septal Defect (VSD)

 Presentation: the most common congenital heart defect (25% of all defects)
o Small VSD: likely no symptoms + grade IV/VI holosystolic murmur
o Moderate VSD: signs of CHF/growth failure + grade I-II/VI holosystolic & diastolic murmur
o Large VSD: signs of CHF/growth failure + diastolic murmur +/- mild holosystolic murmur
o Murmur: holosystolic murmur at LLSB (turbulence through L-R shunting) or diastolic rumble at
the apex (increased flow across mitral valve from L-R shunting)
 The larger the VSD, the less turbulence, the softer the murmur
o Eisenmenger Syndrome: chronic L-R shunting results in high flow through pulmonary
vasculature causing pulmonary HTN. Increasing pulmonary vascular resistance (PVR) results in
physiology right ventricular hypertrophy. Eventually the R. ventricle gets strong enough that it
overwhelms the left, causing R-L shunting  late cyanosis/dyspnea
 Anatomy:
o Inlet (3): occurs near & may involve the mitral/tricuspid valve (areas of
in-flow to the venticles); may be part of an AVSD
o Trabecular (muscular; 4): most common/least concerning; hole through
muscular septum (lower portion); if small, may close on its own
o Membranous (2): through the membraneous septum (upper portion);
most concerning type as it’s likely the result of endocardial cushion
defects; higher chance of concomitant defects
o Outlet (supracristal; 1): occurs near & may involve the pulmonic/aortic
valves (areas of out-flow from the ventricles)
 Pathophysiology: L-R shunting causes increased bloodflow into the pulmonary
circulation (also causing less outflow into systemic circulation)  heart failure
 Imaging: echocardiogram (evaluate size/character of defect)
 Dx: presentation + imaging
 Tx:
 o Spontaneous closure suspected  medical management of CHF (diuretics/propranolol) &
serial Echocardiograms to ensure closure; 75% of small VSDs close by age 2 without sequelae
o Spontaneous closure not suspected  surgical closure; indicated with:
 CHF refractory to to medical Tx
 Large VSD with pulmonary HTN (closure at 3-6mo)
 Small/moderate VSDs not suspected to close spontaneously (closure at 2-6yr of age)

3539: Complete A-V Septal Defect (CAVSD)

 Presentation: FFT/poor feeding (newborns), exercise intolerance (older children), tachypnea,
cough/wheezing/rales/crackles, tachycardia, cardiomegaly, sweating/pallor with feeding or activity,
peripheral edema, hepatomegaly  all signs of CHF
o Most common heart defect in Down Syndrome (trisomy 21); stigmata of disease present
o Murmur: loud S2 (pulmonary HTN), systolic ejection murmur @ LUSB (high flow across
pulmonic valve) +/- holosystolic murmur at LLSB (VSD; will be absent if very large)
 Pathophysiology: poor endocardial cushion formation results in an ASD, VSD, and common A-V valve
(poor mitral/tricuspid valve formation)  L-R shunting causes increased pulmonary blood-flow &
return to the heart  ventricular overload & CHF
 Imaging: echocardiography
 Dx: presentation + imaging
 Tx: surgical repair

4912: Patent Ductus Arteriosus (PDA)

 Presentation:
o Small PDA: often asymptomatic + murmur
o Large PDA: may cause CHF/pulmonary HTN + murmur, widened pulse pressure, brisk pulses,
and sometimes an end-diastolic rumble at the apex (increased flow across mitral valve)
o Murmur: continuous ‘machine-like’ murmur best hear in LUSB
 Pathophysiology:
o In-utero: Ductus arteriosus serves as a R-L shunt; diverting blood away from immature lungs
o Normal neonatal: PDA contracts and scars down to the ligamentum arteriosus
o Abnormal neonatal: PDA remains open & the change in circulation pressures reverses it into a
L-R shunt, diverting flow into the pulmonary circuit
 Imaging: echocardiogram showing abnormal flow
 Dx: presentation + imaging
 Tx: indomethacin (NSAID) typically helps the PDA clamp/scar down
o Surgical resolution may be needed in larger/persistent PDAs

11968: Coarctation of the Aorta

 Presentation:
o Neonates: minimally symptomatic at birth  CHF (poor feeding, fussy, tachypnea, lethargy) 
cardiogenic shock (hypotension, cyanosis, metabolic acidosis, prolonged capillary refill,
diminished urinary output)
 Severe pre-ductal coarctation severely off bloodflow into the aorta; PDA is only source
of good systemic bloodflow (R-L shunt from low post-coaractation pressure)  cut off
when PDA closes causing systemic outflow failure
o Older Children: upper extremity HTN (R arm > L arm), decreased lower extremity flow
(decreased O2 sat in LE, decreased BP in LE, diminished/delayed femoral pulses), bicuspid aortic
valve (50%), “bruit of turbulence” audible in upper left back near left scapula
 o Adults: Older children signs/symptoms + lower extremity claudication & palpable pulsations of
intercostal arteries
 Pathophysiology: thickening of the tunica media of the aorta, typically around the ductus arteriosus
(can be pre- or post-ductal) resulting in compromised bloodflow distally
 Dx: presentation/bruit
 Tx: immediate PGE2 + low-dose dopamine (+inotrope)  surgical repair (end-to-end anastomosis)
o If “re-stenosis” following surgery occurs: Symptoms should return; Check all extremities BP 
Balloon angioplasty (widen the narrowed segment)

[Cyanotic Congenital Heart Disease]

2429/3541/4842: Tetralogy of Fallot
 Presentation: the most common cyanotic congenital heart disease with following features:
o Cyanosis: pulmonic stenosis & L-R shunting cause deoxygenated blood to flow into systemic
circulation; PDA closure results in severe hypoxia resulting in a blue baby!
o 4 classic defects:
 1. Over-riding aorta (overlies a portion of ventricular septum  pulmonic stenosis)
 2. Pulmonary stenosis/atresia (right ventricular outflow tract obstruction)
 3. Right ventricular hypertrophy (reactive to pulmonary outflow obstruction)
 4. Ventricular septal defect (VSD; allows for R-L shunting & into PDA if present)
 Often, but not classically, Patent Ductus Arteriosus present (PDA; aids with oxygenation)
o Hypercyanotic “Tet” Spells: sudden cyanosis/decreased murmur intensity due increased
pulmonary vascular resistance (agitation, feeding, crying, hyperventilation from playing/running
around) causing increased shunting away from pulmonary circulation; child becomes
irritable/cries/becomes dizzy & learns to squat down (increased SVR & transient increased
venous return causes increased flow to lungs = better oxygenation)
o Murmur: creshendo-decreshendo at left-upper upper sternal border (pulmonic stenosis) +
single S2 (aorta snapping shut, pulmonic valve inaudible)
 Pathophysiology: poor blood oxygenation due to limited flow through pulmonary vasculature
 Imaging: echocardiography (RVH), CXR (“boot-shaped heart”, decreased pulmonary vascular markings,
right-sided aortic arch)
 Dx: presentation + imaging
 Tx: surgical repair around 4-8mo
o Tet Spell – knee-chest position (“squatting”) + IV fluids, oxygen, propranolol if needed

4260: D-Transposition of the Great Arteries

 Presentation: central cyanosis in first 24hr (most common to present in neonatal period!)
o Murmur: single S2 (aortic valve abnormally set in anterior position; sound overshadows
pulmonic valve closure) + VSD (holosystolic, LLSB) or PDA (continuous ‘machine-like’ murmur
radiating to neck/arms/supraclavicular region) depending on defect present
 If ASD is present allowing for survival, no murmur is heard
o Note that L-transposition of the Great Arteries reverses the vessels & the heart (double negative
that cancels each-other out!)
 Pathophysiology: abnormal rotation of the septum dividing the aorta/pulmonary arteries due to
failure of neural crest cell migration  two independent circulatory systems
o Not compatible with life unless PDA, ASD or VSD are present to allow mixing between systems
 Imaging: CXR (“egg on a string” narrowed mediastinum), echocardiography (abnormal connections)
 Dx: presentation + imaging
  Tx: immediate PGE2 (keep patent ductus)  emergent balloon septoplasty (enlarge defect to ensure
blood mixing)  definitive repair with ‘arterial switch operation’ (switch around great vessels &
incise/re-implant coronaries to proper bloodflow)

3991: Tricuspid Atresia

 Presentation: central cyanosis, clear lung sounds, murmur/EKG findings
o ASD/VSD must be present for survival
 VSD Present: L-R shunting allows for acceptable oxygenation
 VSD Absent: cyanosis as PDA constricts with eventual hypoxia w/out intervention
o Murmur: holosystolic murmur at Left Lower Sternal Border (if VSD present)
o EKG: left axis deviation (hypoplastic R. ventricle/LVH), small/absent R-waves in pre-cordial leads
(V1, V2, V3; hypoplastic R. ventricle), large ‘peaked’ P-waves in lead II (R. atrial hypertrophy)
 Pathophysiology: lack of communication between the R. atrium/ventricle & concomitant septal
defects results in the left ventricle doing the work in-utero that the right ventricle normally does. This
causes greater development of the left ventricle & a hypoplastic R. ventricle
o Normally, neonates are born with right-axis deviation & prominent R-waves in V1/V2/V3 due to
shunting away from the left ventricle in neonatal circulation
o Decreased R. ventricular flow results in poor pulmonary circulation, thus decreased pulmonary
valve/artery development  decreased pulmonary markings
 Imaging: CXR (normal sized heart, decreased lung markings), echocardiography (hypoplastic R.
ventricle, ASD, VSD)
 Dx: presentation + imaging
 Tx: Surgical repair (Glenn shunt + Fontan Procedure)

Persistent Truncus Arteriosus

 Presentation: mild cyanosis + murmur
o Murmur: single S2 (single pulmonic-aortic valve), systolic ejection murmur at LUSB, & diastolic
murmur at apex
 Pathophysiology: malformation of the pulmonary arteries/aorta so that there is only one big outflow
vessel from the ventricles; VSD is nearly always present
 Imaging: Echocardiography (shows abnormality); CXR (enlarged heart +/- right-sided aortic arch)
 Dx: presentation + imaging
 Tx: Tx for CHF + surgical repair

Total Anomalous Pulmonary Venous Return (TAVR)

 Presentation: severe cyanosis within 24hr of birth + murmur
o Murmur: pulmonary ejection murmur heard in LUSB (right sided over-filling)
 Anatomy:
o Supracardiac: lungs feed into SVC or innominate artery
o Cardiac: lungs feed into R.atrium
o Infracardiac: lungs feed into portal system
 Pathophysiology: venous return from lungs only feeds into the right heart (not into left heart); R-L
shunting occurs across the PFO or ASD to fill the left heart after
 Imaging: CXR (enlarged heart with “snowman appearance” from anomalous drainage)
 Dx: presentation + imaging
 Tx: surgical revision

Rheumatology/Orthopedics/Sports Medicine
12422: Juvenile Idiopathic Arthritis (JIA)
 Presentation: child <16yr with chronic, symmetric polyarthritis/fatigue/inflammation of joints +/- other
constitutional symptoms (fever, rash, etc.) occurring for >6weeks
o Oligoarticular (<5 joints affected) can be early onset (<8yr) or late onset (>8yr)
 Early onset – females, ANA+, uveitis/blindness (50%), hips/sacroiliac joints spared
 Late onset – males, HLA-B27+, spondyloarthropathies risk, hips/sacroiliac joints involved
o Polyarticular (>5 joints affected) can be Rheumatoid factor (RF)+ or RF-
 RF+  females, late onset, often severe widespread joint involvement
 RF-  females, early or late onset, may cause deformity of joints
o Systemic (Still’s Disease) – high spiking fevers (often ‘of unknown origin’), transient salmon
colored rash on trunk/extremities with fevers, hepatosplenomegaly, & lymphadenopathy
Pathophysiology: autoimmune attack of joints
o Females more commonly have overall; but men more likely to have oligoarticular
o Anemia due to inflammatory stimulation of hepcidin (inhibits gut iron absorption, limits release
of iron from liver reticuloendothelial system & macrophages)
 Labs: ESR/CRP elevation, anemia of chronic disease (chronic inflammation), elevated acute phase
reactants (hyperferritinemia, hypergammaglobulinemia, thrombocytosis), +RF or +ANA
 Dx: presentation
 Tx: NSAIDs/immunomodulatory drugs (steroids, MTX, etc.) + Physical therapy (joint mobility)

4873: Supracondylar Fracture of Humerus

 Presentation: child age 2-12yr with Hx of fall onto outstretched arm with elbow extended. Immediate
pain, swelling, refusal to move arm at elbow
 Complications:
o Median nerve damage: runs near the bone; nerve deficit in distribution of median nerve
(palmar aspect thenar compartment/digits 1/2/3/half of 4 + dorsal aspect tips of digits 1/2/3)
o Median artery damage: runs through this area directly adjacent to bone; always check the
distal radial/ulnar pulses to ensure this has not occured
o Compartment syndrome: severe pain (despite analgesia), pallor, pokilothermia, paresthesias
+/- late findings (pulselessness/paralysis) due to intense inflammation
 Imaging: plain X-ray (fracture of the bone + anterior/posterior triangular lucency from fat pad
inflammation “posterior fat pad sign”)
 Labs: compartment pressures (if concern for compartment syndrome)
 Dx: presentation + imaging
 Tx: setting of bone + address any complications

4064: Spondylolisthesis
 Presentation: child with slowly developing back pain +/- neurologic dysfunction (urinary dysfunction,
loss of dermatomal cutaneous sensation) & palpable “step off” of the lumbosacral area
 Pathophysiology: developmental disorder causing forward slipping of vertebrae (typically L5 slipping
over S1) causing spinal cord compression
 Imaging: AP/lateral/oblique views of the spine (shows anterior subluxation)
 Dx: clinical presentation + imaging
 Tx: surgical resolution (if nerve impingement, persistent pain, or progression)

3404/4533: Legg-Calvé-Perthes disease (idiopathic avascular necrosis of femoral capital epiphysis)

  Presentation: persistent hip/groin/knee pain of insidious onset + antalgic gait (stance-phase shortened
vs swing phase; done to avoid pain; “anta – alga” = pain avoidance), thigh muscle atrophy, decreased
range of motion
o Most common in boys ages 4-10 (pre-puberty)
 Pathophysiology: unknown; but suspected to be underlying thrombophilia
 Imaging: X-ray hips (flattened/fragmented femoral head “Crescent sign”, loss off femoral joint space,
head contained within the acetabulum; often alternating areas of lucency and density representing
necrotic/new bone)
o Often early X-rays are negative and mis-diagnosis of transient synovitis may occur
o MRI: must be done to confirm Dx
 Dx: presentation + labs
 Tx: conservative bracing/observation with avoidance of weight bearing by the hip girdle +/- surgery if
femoral head dislodged

3079/4834/4835: Kawasaki’s Disease (Mucocutaneous Lymph Node Syndrome)

 Presentation: persistent high fever (>5 consecutive days, refractory to antipyretics)
o Diagnostic criteria: 1cervical lymphadenopathy, 2bilateral non-exudative conjunctivitis,
3swelling/inflammation/peeling of palms & soles, 4mucositis (strawberry tongue/fissured lips),
5widespread rash

o Classically occurs in children 18-24mo, especially of east-Asian descent; almost always occurs in
children <5yr (rare to occur afterward!)
o Complications: coronary artery aneurysm  thrombosis/myocardial ischemia/death; hydrops
of the gallbladder (RUQ pain), arthritis/uveitis/urethritis
 Pathophysiology: poorly understood but thought to occur in three phases:
o Acute Phase: 1-2wk; classic presenting signs for diagnosis
o Subacute Phase: weeks-months; palms/soles rash/formation of aneurysms/thrombocytosis
o Convalescent Phase: weeks-years; gradual resolution of aneurysms
 Labs: elevated ESR/CRP, leukocytosis with neutrophilia, reactive thrombocytosis, sterile pyuria
 Imaging: echocardiography at time of Dx & 6-8wk later (rule out coronary artery aneurysm)
 Dx: characteristic fever + 4 out of 5 diagnostic criteria
o Atypical presentation may be suspected with lab findings
 Tx: high-dose aspirin + IVIg (minimize inflammation to decrease cardiovascular problems) within 10
days of fever (acute phase); low-dose aspirin (subacute or convalescent if aneurysms present for the
anti-platelet effects to limit thrombotic occlusion)
o Spontaneous resolution within 12 days

3403/4844: Slipped Capital Femoral Epiphysis (SCFE)

 Risk Factors: Obesity (#1), endocrinopathies (#1 for bilateral), renal failure, radiation of the hips
 Presentation: limping/pain with activity typically of upper-anterior thigh, but may be referred into the
lower thigh/knee (33%)
o Limited internal rotation of the hip + obligate external rotation when hip is flexed to 90° is a
hallmark & often limited hip extension/abduction are also found
o Most common hip disorder between ages 8 and 15; more common in boys/overweight/obese
children undergoing physical activity (obesity = greatest risk factor)
o Note that hypothyroidism puts pts at especially high risk of bilateral SCFE
o Complications: avascular necrosis of hip (33%), SCFE of contralateral hip (33%), or chrondrolysis
 Pathophysiology: Slipping from disruption of the proximal growth plate causing displacement
medially/posteriorly often without acute injury
 o The physis (junction between femoral neck/head) weakens due to rapid expansion of growth
plate cartilage during pubertal growth (not as strong as bone)
o Being overweight causes excessive traction
 Imaging: frog-leg & lateral X-ray hips (epiphysis widening posterior displacement of femoral head;
epiphyseal cap appears as “scoop slipping off the ice cream cone”; Klein Line doesn’t pass thru
epiphysis)
 Dx: clinical presentation + imaging
 Tx: Pt should not bear weight; emergent referral to orthopedic surgery (surgical pinning/fixation of the
femoral head to stop slippage)
o Close follow-up for other hip & weight loss should occur

2486: Rickets
 Risk Factors: dark skin complexion, exclusive breast feeding (without supplementation), poor
absorption of Vit.D (CF, etc.), anticonvulsant medications (interfere with liver metabolism)
 Presentation: delayed fontanelle closure, craniotabes (“ping-pong ball skull”), skull frontal bossing,
“rachitic rosary” (palpable bone ‘bumps’ on ribs), “pidgeon-chest deformity” (sternal protrusion),
“wrist widening”, & genu varum (“bow legged”)
 Pathophysiology:
o Vit. D dependent: Vitamin D deficiency or Ca2+ deficiency (less common) causing weak
formation for hydroxyapatite crystals, thus poor bone strength & deformity
o Vit. D independent: familial hypophosphatemia (X-linked dominant disorder) causing low
phosphorus due to renal wasting  failure of hydroxyapatite crystal formation
 Labs: 25-OH Vit.D (low), Ca (low-normal), phos (low-normal), alk.phos (very high), PTH (high)
 Imaging: X-ray (osteopenia, metaphyseal cupping/fraying, epiphyseal widening from lack of bone)
 Dx: presentation + imaging
 Tx: Vit.D repletion (1000-2000 IU/day) with maintenance of 400 IU/day after repletion

3684/3685: Congenital Foot Deformity

 Metatarsus Adductus
o Presentation: bilateral medial deviation of the forefoot with neutral hindfoot position
 Foot able to be corrected with passive or active motion (“flexible foot”)
 The most common congenital foot deformity
 More common in 1st born infants (less space in primigravid uterus)
o Pathophysiology: crowding in uterus causes deviation of foot bones
o Dx: presentation
o Tx: reassurance (spontaneous resolution with normal use)
 Congenital Clubfoot
o Presentation: rigid medial/upward deviation of both forefoot & hindfoot (does not correct with
active or passive movement)
o Pathophysiology: several etiologies; congenital/teratogenic/uterine crowding can all occur
o Labs: karyotyping to rule in/out congenital genetic problem should be sought
o Dx: presentation
o Tx: orthopedic examination + serial manipulation/casting soon after birth

3770: Osteogenesis Imperfecta

 Presentation:
 o Structurally brittle bone – often multiple fractures (may mimic child abuse), short stature,
scoliosis, hearing loss (fracture of the conducting bones of the ear), & dentogenesis imperfecta
(small/misshapen teeth with opalescent blue-grey or yellow-brown discoloration)
o Weakened connective tissue: joint instability, easy bruisability
o Blue sclerae – decreased collagen in the eye revealing choroidal veins
 Pathophysiology: Autosomal Dominant genetic defect in COL1A1 gene (α1 or α2 chain of Type 1
collagen synthesis)
o Type I = normal lifespan with defects; may not be noticed
o Type II = perinatal lethal from in-utero fractures
o Type III/IV = moderate defects; often recurrent fractures/full phenotype
 Dx: presentation
 Tx: bisphosphonate use (even in children <2yr) with internal fixation of long bones

3555: Growing Pains

 Presentation: bilateral lower extremity pain occuring at night/resolving by morning in an otherwise
unaffected & healthy child
o Typically occurs in children 2-12yr (pre-puberty)
 Pathophysiology: unknown cause; but totally unrelated to growth (despite name)
 Dx: presentation
 Tx: education, massage/muscle stretching exercises/OTC NSAIDs + monitoring for changes in pain

4584: Serum Sickness-like Reaction

 Presentation: fever/urticarial/polyarthralgia with no mucosal involvement 1-2wk following exposure to
new medication
o Less commonly: headache, edema, lymphadenopathy, splenomegaly
o Most commonly occurs with antibiotics (B-lactams/sulfa drugs)
 Pathophysiology: type III hypersensitivity reaction (not a true allergy)
 Labs: elevated ESR/CRP
 Dx: Presentation
 Tx: cease/avoidance of offending drug +/- steroids if severe
o Resolution typically occurs within 48hr of offending agent

4399/4761: Congenital Torticollis

 Presentation: infant (1-6mo) with head tilt to one side/chin tilt toward the other (contraction of SCM),
limited range of neck motion, & a neck mass (does not trans-illuminate; on inferior portion of
contracted SCM, often bleeding into the muscle)
o Positional plagiocephaly (flattening of occiput/forehead with ipsilateral anterior ear
displacement) may result if not corrected causing craniofacial asymmetry
o Risk Factors: multiple gestation, oligohydramnios, breech positioning (uterine crowing)
 Pathophysiology: crowding within the uterus causes abnormal posture and formation of the neck mass
causing pulling on the SCM
o Associated with other conditions also caused by uterus crowding (developmental dysplasia of
the hip, metatarsus adductus, and clubfoot
 Dx: presentation
 Tx: positioning (tummy time), passive stretching, and physical therapy
 Lookalike: Acquired Torticollis may be the result of a posterior fossa tumor. Tonsillar herniation or
compensation for visual disturbance from the tumor can result in secondary head tilt. This is extremely
rare and would like present with other neurologic sequelae.
2629/4642/8772/11441: Characteristics of Common Childhood Bone Tumors
 Common Symptoms: bone pain in a teenage boy without constitutional symptoms; may have
pathologic fracture leading to discovery
 Osteosarcoma -
o Presentation: chronic localized bone pain with swollen soft tissue mass; most common bone
tumor of children
o Imaging: X-ray showing mix of radiodense/lucent areas +/- sunburst pattern/Codmann triangle
o Dx: presentation + imaging
o Tx: excision/chemotherapy to treat
 Ewing Sarcoma – extremely malignant tumor of bone; typically occurring in the lower extremity (femur
most often); 2nd most common bone tumor of children
o Presentation: bone pain/swelling/inflammation of local area
 May have osteomyelitis-like symptoms (intermittent fever, leukocytosis, anemia, ^ESR)
 Lung or lymph node involvement may be present on initial exam
o Imaging: X-ray showing lytic lesion with endosteal scalloping + periosteal retraction causing
“onion skin appearance”  “moth-eaten” mottled appearance + involvement of soft tissue
o Dx: presentation + imaging
o Tx: surgical resection + chemoradiation
 Osteoid Osteoma - Benign tumor typically in proximal femur; other long-bones/spine may be affected
o Presentation: focal bone pain/tenderness worse at night, unrelated to physical activity
 Children may develop swelling/deformity; this is rare in adolsecents/adults
o Imaging: X-ray showing sclerotic bone lesion with obvious central lucency
o Dx: imaging + bone pain relief with NSAIDs
o Tx: serial X-rays of lesion every 4-5mo; most resolve spontaneously, surgical excision is reserved
for refractory symptoms
 Langerhans Histiocytosis (LCH, Langerhans Cell Granulomatosis, or Histiocytosis X)
o Presentation: focal bone pain/swelling + hypercalcemia/pathologic fracture
o Imaging: Xray showing solitary lytic long-bone lesion
o Dx: presentation + hypercalcemia + imaging
o Tx: conservative management (will spontaneously resolve)

3402/4534: Developmental Dysplasia of the Hip (DDH)

 Risk Factors: breech presentation, female sex, Caucasian, family history of DDH
o Most commonly (75%) pt has no risk factors for this problem
 Presentation: palpable ‘clunk’ on regular serial hip stability exams
o Equivocal signs – soft click, leg-length discrepancy, asymmetric inguinal folds
o Complications: limp (Trendelenburg gait), scoliosis, arthritis, avascular necrosis of the hip
 Screening: all children should receive serial hip screening at every well-child visit up to 1yr
o Barlow maneuver – pt supine with hips flexed/hips abducted, adduction of the hips with gentle
posterior pressure; (+)if hips dislocate during maneuver indicating hip dysplasia
o Ortolani maneuver – following Barlow  knee flexed/gentle anterior pressure at the greater
trochanter is applied and his are abducted; (+)if “clunk” is heard with abduction indicating hip
dislocation occurring during Barlow and reversed with Ortolani (“clunk” is reduction of the hip)
o Galeazzi sign – flexion of hips/knees of supine child so feet touch resting surface and ankles
touch buttocks; if knees are even, it’s normal; asymmetry indicated DDH
 Pathophysiology: dislocation of the femoral head from the acetabulum due to weak hip joints or
abnormally flat acetabulum groove (poor fit for femoral head)
 o Hip instability is acceptable <2wk of age (often it resolves spontaneously as child develops)
 Imaging:
o <2wk: no imaging needed; watch/re-examine after 2wk of age
o 2wk – 6mo: bilateral ultrasound of hips (ossification has largely not occurred yet)
o >6mo: bilateral X-ray hips (ossification sufficient for X-ray detection)
 Dx: (+)Barlow/Ortolani (no imaging required)
o If (-)Barlow/Ortolani but evidence of hip asymmetry  get imaging depending on age
o Early diagnosis is crucial; as intervention must be done before 6mo
o Delayed diagnosis is one of the most common reasons for malpractice of a pediatrician
 Tx: (+)Barlow/Ortolani or (+)imaging  orthopedics referral
o <6mo: Pavlik harness (keeps hips in flexion/abduction) for regular growth
o >6mo: Reduction under general anesthesia (higher risk of complications later)

3416/3668: Radial Head Subluxation (“Nursemaid’s Elbow”)

 Presentation: child distressed keeping arm extended & pronated +/- mild tenderness of radial head;
child should be in pain with movement but no swelling or angular deformity should be present
o Common elbow injury in children aged 1-5yr
o Often due to “pulling child’s arm from harm” or “swinging child around for play”
 Pathophysiology: axial traction on the child’s forearm pulls the radial head down, allowing the annular
ligament to get trapped between the radial-humeral articulation
o In children <5yr the annual ligament if somewhat weak, thus cannot hold the radial head firmly
in place; after age 5yr, it’s sufficiently thickened to stop subluxation
 Imaging: often X-rays are normal; post-reduction films are not needed if maneuvers are successful
 Dx: clinical presentation + success of treatment maneuvers
 Tx: forced hyper-pronation OR forced supination with flexion; an audible click with full return to
function should be noted afterward if successful

4849: Osgood-Schlatter Disease

 Presentation: adolescent athlete with knee pain (esp. over the tibial tubercle) exacerbated with
exercise, relieved by rest & reproducible with knee extension against resistence;
o Tenderness/swelling/inflammation +/- palpable mass over tibial tubercle (heterotopic bone
formation from traction injury) may also be noted
 Pathophysiology: rapid growth in adolescents causes traction on the apophysis of the tibial tubercle by
the quadriceps tendon via the quadriceps tendon-patella-patellar tendon complex
o Athletic endeavors cause additional traction resulting in pathologic changes
 Imaging: X-ray (anterior soft tissue swelling, lifting of tibial tubercle from tibial shaft, irregular
fragmentation of tubercle)
 Dx: presentation +/- imaging
 Tx: activity restriction/stretching exercises/NSAIDs for pain
o Banding of the tibial tubercle may also provide relief during athletic events

4857: Transient Synovitis

 Presentation: transient joint (often knee or hip) pain, decreased ROM, & limping following a viral
infection or mild trauma; often well-appearing and pain not severe enough to restrict daily life
o Most common cause of knee pain in children (typically 3-10yr of age)
o Must be differentiated from septic arthritis (fever, unable to bear weight, leukocytosis, ESR >40
or CRP >2mg/dL)  if seen prompt joint aspiration is necessary
 Pathophysiology: synovial inflammation somehow caused by antecedent event (poorly understood)
  Dx: presentation + ruling out septic arthritis
 Tx: rest/NSAIDs; spontaneous recovery around 1-4wk

-
 Glasgow Coma Scale
 Childhood Conjunctivitis
 Rocky Mountain Spotted Fever