PEDIATRICS NOTES

Legal issues: When only one parent consents and the other doesnt, can still move forward with treatment. Dont need
parental consent or court order for urgent treatment (e.g., tetanus vaccine after exposure) but do need court order for
non-urgent but lifesaving treatment (chemo)
Physical Exam
HEENT:
Caput succedaneum: Edema, not blood, that can cross suture lines. Its soft tissue swelling of the
scalp that involves the presenting delivery portion of the head. Sometimes ecchymotic and can extend across
suture lines. Edema may be pitting, resolves in a few days.
Subgaleal hemorrhage = subaponeurotic hemorrhage: superficial edema or hematoma that
crosses suture lines, usually located over the crown.
Symptoms - head feels squishy, may have tachycardia due to hypovolemia. Basically
like a cephalohematoma that crosses the midline.
Can be life-threatening because of hypovolemic shock - some infants require fluid
ressuscitation, but observation alone might be okay
Cephalohematoma: subperiosteal hemorrhage hematoma that does not cross suture
lines. No discoloration of the scalp. Usually resolves within a few weeks or months.
Fontanelles: Anterior remains open until midway through year 2, ossifies during 20s and finishes by
50 years. Posterior and lateral fontanelles are gone by 6 montns.
PULMONARY
RR: Varies by age. Babies: 40-60 breaths/min. Toddlers: 12-14 breaths/min.
Can stratify the amount of respiratory distress, worse as we move through subcostal
interc1ostal supraclavicular suprasternal.
THORAX
Thymus is visible on xray until age 3 (sail sign). Babys heart should be < 60% diameter of the chest,
adults and kids > 1 year should have < 50% of the chest
ABDOMINAL EXAM
In neonates, it can be normal to palpate the liver edge 2 cm below the costal margin, a spleen tip, and
kidneys (with deep pressure)
Umbilical hernias:Usually resolve on their own by one year. Do surgery if age 3-4 years, > 2 cm in
diameter, symptomatic, strangulated, or enlarges after 1-2 years
Gastroschisis: Bowel protrudes through a defect on the right side of the umbilical cord, not covered
by protective membrane
Typically not associated with other congenital abnormalities
Treatment: Dont need a c-section unless other indications are present. Sterile
wrapping of the exposed bowel with sterile sale and plastic wrap to prevent fluid losses. Then
decompress bowel with NG tube, get periperal access, and start abx. Then surgery.
Omphalocele: Intraabdominal contents protrude through umbilical ring, covered by membrane. Can
be associated wtih other heart and kidney anomalies
HIPS
Hip dysplasia can cause scoliosis, avascular necrosis, trendelenburg gait, and arthritis
Clunk on Barlow (adduction and push low) or Ortolani (abduction and push up) refer to
orthopedics
Leg length discrepancy, asymmetric inguinal folds, inguinal folds that extend past anal
aperture, soft click suggests hip laxity, usually resolves in two weeks. If still present at 2
weeks, do imaging. ultrasound < 6 months, x-ray > 6 months.
Treat with the Pavlik hip harness if < 6 months. After that need surgery.

FEET
Metatarsus adductus: Toes curve inward. Three grades: Grade 1 overcorrects to abduction
with active and passive movement just give reassurance. Grade 2 corrects to neutral position
give orthosis or corrective shoes, serial casts if no improvement. Grade 3 does not correct
need serial casts
10% will have hip dysplasia, too
Club foot: serial casts and stretching at first, and if that doesnt work, then surgery - preferably
between 3 and 6 months, always before 1 year
Babinski reflex disappears between 1 and 2 years.
SKIN
Strawberry hemangiomas are benign vascular tumors of childhood. Appear in first weeks of life,
grow rapidly, and typically regress by 5-7 years. Composed of capillaries separated by CT.
Cherry hemangiomas are the most common benign vascular tumors in adults - small
bright red cutaneous papules, wont regress
Cavernous hemangiomas: Can be present at birth or appear later in life. Compressible masses up to
a few cm in size. Caused by dilated vascular spaces
Cystic hygromas (lymphangiomas) benign tumors of dilated lymphatic spaces, often occur in the
neck. Lobulated, compressible, will transilluminate
DEVELOPMENT:
Fine Motor: 3 years copies a cross and a circle, 4 years copies a square and a rectangle, 5 years
copies a triangle, 6 years copies a diamond
DRUG EXPOSURES IN UTERO
Heroin/methadone: does not cause dysmorphic features or congenital anomalies, but do have
increased risk of IUGR, , macrocephaly, SIDS, and neonatal abstinence syndrome. NAS presents in 48 hours
for heroin, 48-72 hours or up to 4 weeks later for methadone. Treat with morphine and wean to control
withdrawal.
Valproic acid: neural tube defects, cardiac anomalies, dysmorphic face
Phenytoin fetal hydantoin syndrome: nail and digit hypoplasia (phunny phingers),
dysmorphic face, MR
Cocaine: jittery, excessive sucking, hyperactive moro, long term effects on behavior, attention,
intelligence. Increased risk of vascular accidents (e.g., jejunal and ileal atresia). Withdrawal not as severe as
with opiates.
Newborn Screening
1. Metabolic screenings:
a. Most common = hypothyroid, PKU, galactosemia, Hb type, adrenal hyperplasia.
Congenital hypothyroid: Most often caused by thyroid disgenesis.
Baby has a large tongue, jaundice, hoarse cry and decreased activity
b. Sometimes = maple syrup urine disease, homocysteinuria, biotinase deficiency, cystic
fibrosis, tyrosinemia, and toxoplasmosis.
Maple syrup urine disease: Cant process isoleucine, leucine,
and valine (I Love Vt maple syrup!). Presents around a week after birth
convulsions and death by 2-4 weeks. Treat with diet free from branched chain AAs.
Poor feeding, vomiting, lethargy, developmental delay, seizures, coma, and death
Biotinase deficiency: cant make free biotin for use with
mitochondrial enzymes. Symptoms show up several months or years later skin
issues (dermatitis, alopecia), neuro issues (ataxia, hypotonia, seizures, developmental delay,
deafness), immune deficiency, and metabolic acidosis. Treat with lifelong administration of
biotin.

 Galactosemia: Absence of galactose-1-phosphage uridyl

transferase get stuck with galactose 1P and cant convert to glucose 1P.
Jaundice, emesis, listlessness. Increased risk of e coli sepsis. Treat with avoiding
lactose (no cows milk or breast milk) cataracts will regress!
Galactokinase deficiency: Mild galactosemia,cant
phosphorylate galactose to form galactose 1P. Just get cataracts, no other symptoms.
Ornithine transcabamylase deficiency: Protein restriction and
avoid citrulline
Homocysteinuria:
AR disorder caused by cystathione synthase
deficiency - dereased production of cystathione from homocysteine. End up with
elevated homocysteine levels, which predisposes to clotting, strokes, etc.
Have marfanoid body (tall, especially long arms, joint
laxity, chest deformities), intellectual disability, downward lens dislocation, fair hair and
eyes, and hypercoagulability.
Diet high in B6, folate, and methionine - encourages
homocysteine to form cystathione and cysteine rather than methoionine. Also
antiplatelets or anticoagulation to prevent stroke, coronary artery disease, and venous
thrombosis.
PKU: autosomal recessive. Cant metabolize phenylalanine to
tyrosine. Born normal, then symptoms around several months of age. Musty smell,
fair complexion, eczema. Untreated MR and seizures
Treat by avoiding phenylalanine in food, avoid high
protein foods. Can have normal development and lifespan if stick to the diet.
Babies born to moms with PKU end up with fetal
alcohol like syndrome
Methioninemia: elevated methionine and homocystine levels
associated with no symptoms or cabbage smell, delays in walking, mental retardation, and
muscle weakness
2. Hg or Hct: recommended for high risk infants (preemies, low birth weight), at 9-12 months of age, and
yearly on menstruating adolescents
3. Urinalyses: recommended 9-12 months of age and at 5 years. If sexually active, annual dipstick for
WBCs
4. Lead: 9-12 months, esp. in high risk areas. Again at 2 years.
5. Cholesterol: positive family history screen older than 2 years
6. STDs: annually on sexually active patients
Case 1: Failure to Thrive
Normal for newborns to lose up to 7% of birthweight in the first 5 days. Get concerned if > 10%. Should regain
birthweight by 10-14 days. May have brick red uric acid crystals in the diaper during this time from dehydration - its
okay. Can also happen when first sleep through the night. But uric acid crystals could also signal Lesch-Nyhan rarely.
Term babies need 100-120 kcal/kg/day. Average daily weight gain is 20-30 grams. Preterm babies need 115 to 130
kcal/kg/day. Very low birthweight babies need up to 150 kcal/kg/day.
Poor caloric intake affects growth in the following order: weight length head circumference
In general, weight should triple by 1 year and length should increase by 50%.
Failure to Thrive (FTT): Suspect if growth is < 3-5th percentile, child is < 6 months and has not gained weight in 2-3
months; growth crosses two major percentile markers in a short period of time.
Must modify growth curves for preemies, Down Syndrome, and Turner syndrome. For preemies,
weight gain should follow or exceed term infants.
Nonorganic FTT = psychosocial etiology. Present in 33-50% of FTT cases in tertiary care settings,
nearly all cases in primary care settings. Most kids catch up with appropriate treatment.

 Organic FTT: Poor growth caused by an underlying medical condition. Sometimes kids can catch up
with appropriate treatment.
Alternative Dx: Check if family members are genetically small or have a slow growth history
(constitutional delay) if so, dont necessarily need to do an exhaustive workup
Major causes of poor weight gain
1. Inadequate calorie intake
a. Lack of appetite - depression, chronic disease.
i.
Also kids between 18 and 30 months can become picky
eaters growth curve plateaus. Treatment: provide nutrition, avoid force feeding,
provide snacks, close follow up.
b. Ingestion challenges - feeding disorders, neuro disorders (cerebral palsy), craniofacial
anomalies, genetic syndromes, TEF
i.
Most common kind of TEF is complete upper esophageal
atresia, then distal esophagus comes off the trachea air in the bowel and
respiratory difficulty after feeding
c. Unavailability of food - neglect, inappropriate food for age, insufficient volume of food\
2. Altered growth potential
a. Prenatal insult, chromosomal anomalies, endocrine disorders
3. Caloric wasting
a. Emesis - intestinal tract disorders, drugs, toxins, CNS pathology
b. Malabsorption - GI disease (biliary atresia, celiac disease), inflammatory bowel
disease, infections, toxins
c. Renal losses - diabetes, renal tubular acidosis
4. Increased caloric requirements
a. Increased metabolism - congenital heart disease, chronic respiratory disease, cancer,
chronic infection, hyperthyroidism
b. Defective use of calories - metabolic disorders, renal tubular acidosis
Treatment and follow up
Healthy babies < 1yr: require 120 kcal/kg/day, then 100 kcal/kg/day.
FTT children need an extra 50-100% more to catch up on growth.
For babies, might need formulas with more than the standard 20kcal/oz. Older kids might need pediasure or ensure.
Notes on specific diagnoses:
Intrauterine CMV: Developmental delay, IUG retardation (including microcephaly), prolonged
neonatal jaundice, purpura at birth. Calcified brain deposits in a periventricular pattern.
Intrauterine toxoplasmosis: Same symptoms as CMV - Developmental delay, IUG retardation
(including microcephaly), prolonged neonatal jaundice, purpura at birth. Calcified brain densities are scattered
throughout the cortex
Renal tubular acidosis: Provide oral bicarb
Type 1 = distal tube defect caused by impaired H+ secretion,
Type 2 = proximal tubule defect caused by impaired HCO3- reabsorption,
Type 4 = distal tubule defect caused by impaired ammoniagenesis.
Cerebral palsy: A group of clinical syndromes characterized by nonprogressive motor dysfunction.
Biggest risk factor is prematurity. 50% have intellectual disability.
Most common type is spastic diplegia- hypertonia and hyperreflexia that mostly
involves the legs. Will have feet pointing down and inward (equinovarus deformity)
Acute intrapartum hypoxia and low APGAR scores are poor predictors of CP! Most
with low APGARS will not have CP.
Neuro diseases
Werdnig-Hoffman = SMA type 1: defect in survivor motor neuron gene that stops apoptosis of motor
neuroblasts. Usually die by age 2 or 3. Causes a floppy baby syndrome.
SMA II can survive into school age. SMA III have normal intelligence and no heart
affects

 PHACES syndrome: Posterior fossa malformation, Hemangioma, Arterial abnormalities, Coartaction

of the aorta or other cardiac defects, Eye abnormalities, Sternal defects
McCune Albright syndrome = large, irregular, usually unilateral cafe au lait spots and fibrous
dysplasia of the bones in association with precocious puberty in girls. Remember 3 Ps: Precocious puberty,
pigmentation, polyostic fibrous dysplasia (prone to broken bones)
MMR and hep A not given until 1 year.
Case 2: Substance Abuse and Dependence
Substance abuse = use leading to impairment or distress; causing harm like failure to meet obligations, physical harm,
etc.; or use despite social or interpersonal consequences resulting from the drugs effect
Substance dependence: Loss of control with continued use = tolerance requiring higher doses or withdrawal when
terminated, compulsion to use the drug, and continued use despite negative consequences.
Drug screening: Attempt to get the adolescents permission and maintain confidentiality!
1. Alcohol - 7-10 hours in blood, 10-13 in urine
2. Marijuana - 3-10 days in urine for occasional use, up to 2 months for chronic use
3. Cocaine - 2-4 days in urine
4. Meth, ecstasy, opiates - 2 days in urine
5. PCP - 8 days in urine
6. Barbituates - 1 day for short acting, 2-3 weeks for longer acting
Case 3: Trisomies
Brachydactyly: Shortening of hand and foot tubular bones
Clinodactyly: Incurving of one of the digits (in DS, 5th digit curves towards the 4th)
Dysmorphic child: problems of generalized growth or body structure
Syndrome = constellation of features from a common cause, e.g. Down syndrome physical features
Association = two or more features of unknown cause occurring together more often than would be
expected (VATER = vertebral problems, anal anomalies, trachea problems, esophageal abnormalities, radius
or renal abnormalities)
Sequence = single defect that leads to subsequent abnormalities (Potters sequence)
Serum trisomy screening: Measure AFP, HCG, inhibin A, and estriol levels - usually done at 15-20 weeks. Identifies
75% of DS and 80-90% of neural tube defects
Down syndrome
Incidence: At 35 years, 1 in 378 at 40 years, 1 in 106 at 49 years, 1 in 11.
95% are caused by nondisjunction, 2% caused by translocation, and 3% are mosaic. If translocation,
evaluate the parents for chromosomal abnormalities - recurrence risk can approach 100%
Nonobvious symptoms:
Brushfield spots = white or grey spots on the periphery of the iris
Small and rounded ears
Single palmar/simian crease, 5th finger clinodactyly, wide spacing between 1st and
2nd toes
Excess nuchal skin
Brachycephaly (disproportionate shortness of head), brachydactyly, short stature
Widespread nipples
Pelvic dysplasia
Joint hyperflexibility
Hypotonia
Poor Moro reflex
Associated problems

 50% have cardiac defects: most often endocardial cushion defects (60%) =
atrioventricular canal defect, VSD (32%), tetralogy of Fallot (6%)
12% have intestinal atresia: most often duodenal atresia (double bubble sign).
Sometimes presents with polyhydramnios. All DS infants will have hypotonia and sometimes slower
feeding.
Other risks in newborns: hearing loss (evaluate by 3 months); strabismus, cataracts,
and nystagmus (evaluate eyes by 6 months); congenital hypothyroid
Long term risks: obesity, higher leukemia risk, acquired hypothyroid, atlantoaxial
(cervical) spine instability, premature aging with increased risk of Alzheimers (75% over 65, 25%
show signs by 35 yrs)
Atlanto-axial instability in 10-15% - excess laxity in posterior
transverse ligament. Symptoms present over several weeks from compression of the spinal
cord
Trisomy 18 = Edwards Syndrome: Low set and malformed ears, microcephaly, micrognathia, rocker bottom feet,
inguinal hernia, cleft lip and palate, clenched hands with overlapping digits, 50% have congenital heart disease - most
often VSD
Trisomy 13 = Patau Syndrome
Small for gestational age
Microcephaly, sloping forehead, cutis aplasia of the scalp
Polydactyly, flexed and overlapping fingers
Microopthalmia
Omphalocele
Holoprosencephaly (failure of growth of the forebrain)
Cleft lip or palate
Cardiac defects (VSD, ASD, PDA, dextrocardia)
Coloboma
Case 4: Immunodeficiency
If FTT or atypical or difficult to eradicate infections suspect immune suppression.
Primary immunodeficiency: inheritable disorder of weakened immunity and recurring, serious infection early in life
Secondary immunodeficiency: caused by primary conditions like cancer, malnutrition, hepatic disease, and HIV
infection
HIV
Infected mom has 25% chance of transmitting to the baby if antiretrovirals (zidovudine)
are not taken during pregnancy. Zidovudine should be started during the 2nd trimester and
continued through 6 weeks reduces risk of transmission to 10%.
Test babies born to HIV+ moms at birth and at intervals through 6 months of age.
If baby is HIV+, begin bactrim at 6 weeks for PCP prophylaxis. Follow CD4 and HIV
RNA levels.
75% of infected babies will follow a typical adult course with worsening symptoms
over > several years. 25% will progress quickly during the first several months of life.
Testing:
HIV DNA PCR: used in babies < 18 months because antibody test can have false
positives due to maternal antibodies. Sensitivity and specificity > 95%. To rule out HIV, do 2 tests after
1 month of age.
Follow with HIV RNA activity, CD4 cell count, and clinical findings to
determine disease status.HIV RNA levels > 100,000 copies/mL = advanced progression, early
death.

HIV antibody ELISA test: Screening test that looks for IgG, which is detectable 2
weeks to 6 months after exposure. Sensitivity and specificity > 99%. False negatives can occur after
immunization or with hepatic disease, autoimmune disease, or AIDS
Western Blot: Directly visualizes antibodies to HIV proteins. Can be used to confirm
the ELISA results, but the test can be inconclusive and require repeat testing
Treatment
Classes of drugs
Nucleoside reverse transcriptase inhibitors: Didanosine, stavudine,
zidovudine. Choose two.
Nonnucleoside reverse transcriptase inhibitors: efavirenz, nevirapine
Protease inhibitors: indinavir, nelfinavir. Choose one.
Give two nucleoside reverse transcriptase inhibitors + one protease inhibitor
Side effects of all classes = headache, emesis, abdominal pain, diarrhea, osteopenia,
drug rash, anemia, neutropenia, elevated transaminases, hyperglycemia, hyperlipidemia
Immunizations:
Keep them current and administer on the peds schedule, except for live vaccines
(MMR, varicella) in symptomatic HIV+ kids with CD4 < 200 (=15%)

Diabetes
Hyperglycemia neutrophil dysfunction and circulatory insufficiency insufficient neutrophil
chemotaxis during infection
T Cell Deficiency
DiGeorge Syndrome (22q11 microdeletion)
Failure of the 3rd and 4th brachial arches to form decreased T cell production and
recurring infection
Atypical face - wide set eyes, prominent nose, small mandible, cleft palate
Cardiac defects like VSD and tetralogy of Fallot (boot shaped heart)
CATCH-22: conotrunal cardiac defects, abnormal face, thymic aplasia or hypoplasia, cleft palate,
hypocalcemia
B Cell Disorders
Wiskott-Aldrich Syndrome: rare x-linked disorder with recurrent bacterial infections, bleeding caused by by
thrombocytopenia and platelet dysfunction, and chronic eczema.
WATER = Wiskott Aldrich, Thrombocytopenia, Eczema, and Recurrent infections, with high IgA and
IgE. Recurrent infections are caused by impaired humoral immunity (decreased to normal IgM and IgG) and T
cell mutation - they cant reorganize actin cytoskeleton
Prolonged bleeding from circumcision might be the first clue, also bloody diarrhea and easy bruising
Few live past teens, often die from EBV malignancy
IgA deficiency: Recurrent sinopulmonary infections and diarrhea. Possible anaphylactic reaction to blood transfusion
due to production of antibodies to IgA.
Hyper IgM syndrome: X-linked genetic defect in the CD40 Ligand on T cells that binds to CD40 on B cells and
induces a class switch from IgM to other types. End up with elevated IgM with depressed IgG and IgA. Susceptible to
sinopulmonary infections and diarrhea, but no anaphylaxis to blood transfusions
Hyper IgE = Jobs syndrome: High IgE, eosinophilia, coarse facial features, chronic itchy dermatitis, recurrent staph
infections in skin and lungs
Brutons tyrosine kinase mutation = x-linked agammaglobulinemia: Only boys. Manifests around 6 months when
maternal antibodies are gone. Lots of infections with encapsulated bacteria because they require antibody binding for
effective opsonization. Have sinusitis, bronchitis, pneumonia, and otitis media.

Common variable immunodeficiency: Presents like Brutons but have less severe symptoms at a later age (15-35
yrs). Might have decreased antibody levels but no decrease in B cells
Combined B and T Cell Disorders
Adenosine deaminase deficiency: a type of SCID - B and T cell deficiency from birth. Have no lymphoid tissue - no
tonsils, lymph nodes, thymus, etc. Treat with bone marrow transplant, no worry of rejection
Phagocyte Disorders
Leukocyte Adhesion Deficiency: Inheritable disorder of leukocyte chemotaxis and adherence recurring
sinopulmonary, oropharyngeal, and cutaneous infections with delayed wound healing. Neutrophil counts
often > 50,000 cells/mm3. Can have life threatening infections with staph, enterobacteriaceae, and
candida. Big red flag is if the umbilical cord fails to detach.
Cyclic neutropenia: AD inherited condition where neutropenia happens every three weeks, causing oral ulcers,
pharyngitis, and lymphadenopathy. Treat with granulocyte colony stimulating factor
Chronic granulomatous disease: Deficiency of NADPH oxidase no respiratory burst. Cant make H2O2.
Get infections with catalase positive bugs (staph, serratia, klebsiella, aspergillus). Neutrophils full of
bacteria is a classic finding - can phagocytose, but cant kill the bugs.
Chediak Higashi: Decreased granulation, chemotaxis, and granulopoeisis. Mild coagulopathy, hepatosplenomegaly,
partial oculocutaneous albinism, frequent staph aureus infections, neutropenia. Treat with bactrim and daily vitamin C.
Complement Disorders
Complement overconsumption can happen when large quantities of antibody-antigen complexes are present, like in
vasculitis, glomerulonephritis, and certain CT diseases. Lupus is a classic example.
C3 deficiency: infections with encapsulated bacteria (not staph aureus) shortly after birth
Case 5: Klinefelter Syndrome
Causes of mental retardation
Preconceptual and early embryonic disruptions - teratogens, chromosomal abnormalities, placental
dysfunction, congenital CNS malformations
Fetal brain insults - infections, toxins, placental problems
Perinatal difficulties - prematurity, metabolic disorders, infections
Postnatal brain injuries - infections, trauma, metabolic disorders, toxins, poor nutrition
Miscellaneous postnatal family difficulties - poverty, poor caregiver-child interaction, parental mental
illness
Klinefelter Syndrome (XXY)
XXY - caused by nondisjunction. Affects 1 in 600 to 1 in 800 males. Often goes unnoticed until puberty.
Consider for all boys (regardless of age) who have mental retardation or psychosocial, school, or adjustment
problems.
Mild mental delay, eunuchoid (gynecomastia), long arms and legs, hypogonadism
Same incidence of breast cancer as women.
XYY Males

Explosive tempers, start to be aggressive or defiant by 5 or 6.

Long and asymmetrical ears, long face and fingers, tend to be tall.

Turner Syndrome (XO)

Primary amenorrhea, decreased hearing, horseshoe kidney, congenital heart disease (coarctation of
the aorta, bicuspid aortic valve), hypertension, hypothyroid, normal intelligence, increased risk of
osteoporosis from decreased estrogen (streak ovaries)
Very short, low posterior hairline, prominent and low set ears, excessive nuchal skin, widely spaced
nipples and broad chest, increased carrying angle of the arms (cubitus valgus), edema of the hands and feet
as a baby, short metacarpal and metatarsal
Fragile X: low to normal IQ with learning disabilities, language disability, short attention span, autism, large head,
prominent jaw, large low set ears, large testicles. Caused by increased CGG repeats in the FMR1 gene.
Case 6: Megaloblastic Anemia & Case 7: Rickets
Goats milk diet
Goats milk is low in vitamin D, iron, folate, and B12. Must supplement with iron, folate, and B12.
Also risk of Brucellosis if the milk is unpasteurized
Breast milk
Complete nutrition except for maybe Vitamin D and flouride. Iron is low but highly bioavailable - dont
need to supplement until 4-6 months of age unless baby is preterm - then at higher risk of iron deficiency
anemia
Main protein source is whey, which is more easily digested than casein and helps to improve gastric
emptying
Immune benefits from IgA and macrophages (fight E Coli)
Risks: HIV/virus transmission, low vitamin K levels hemorrhage (prevent by giving
Vitamin A at birth), can exacerbate jaundice by increasing unconjugated bilirubin
Contraindications: Active untreated TB infection (can BF 2 weeks after starting
treatment), HIV infection, active substance abuse, galactosemia. Moms with Hep B and C should
breastfeed unless nipples are cracked and bleeding
Vegan moms should supplement with B12 - prevents methylmalonic acidemia = FTT, seizure,
encephalopathy, stroke, other neuro symptoms
Vegan toddlers - give B12 and trace minerals because vegan diet can have a rapid transit time that can deplete trace
minerals
Risk for ADEK deficiency in conditions associated with malabsorption of fat-soluble vitamins:
Cystic fibrosis
Celiac disease
Steatorrhea
Biliary atresia: affects 1 in 16k births. Bile ducts become blocked and fibrotic reduced
flow of bile to bowel. The Kasai procedure is an operation where a bowel loop forms a duct bile
drains from the liver
Liver failure: Causes poor bile salt secretion. Kids with liver failure and ascites get loop
diuretics can cause calcium wasting in urine. Give high doses of vitamin D and calcium
supplements.
Rickets - from deficiencies of Vitamin D, calcium, or phosphate. Usually have normal serum calcium, but low
serum phosphate and low calcium in urine. Always have increased alkaline phosphatase!
Vitamin D rickets causes smooth bowing of the legs, knock knees or bow legs.
Calcium rickets myopathy, rachitic rosary, pectus deformities, tetany, tooth enamel defects.
Costochondral joint enlargement is ALWAYS pathologic and should prompt assessment for rickets

Causes of calcium deficiency with secondary hyper PTH

Lack of Vitamin D - diet, decreased sun exposure
Malabsorption of Vit D - celiac, CF, liver disease
Anticonvulsant drugs (phenobarbital, phenytoin) - reduced 25-OH-D3 levels, maybe because of
increased P450 activity. Give D2 and adequate calcium
Renal osteodystrophy - hypophosphaturia elevated phosphate levels increased PTH
(increased bone turnover) and decreased 1-hydroxylation of 25-OH-D3 decreased calcium
absorption
Vitamin D dependent calcium deficiency type 1: autosomal recessive, have reduced activity of 25hydroxylase. Responds to massive doses of D2 or low dose 1,25-OH-D3.
Causes of phosphate deficiency without secondary hyperPTH
Familial Primary Hypophosphatemia = Vitamin D Resistant Rickets = most common cause of
non-nutritional rickets. X-linked dominant. Cant hold onto phosphate!
Hypodense calcification of bones, fractures, smooth lower extremity bowing knock
knees or bow legs, short stature.
Kidneys have defective phosphate reabsorption and defective hydroxilation of vitamin
D low activated vitamin D, low-normal serum Ca, moderately low serum PO4, and high
alkaline phosphatase with normal PTH levels
Hyperphosphaturia without other evidence of hyperPTH.
Fanconi syndrome - cant reabsorb serum phosphorus increased alk phosphatase. Have
normal calcium levels. Caused by autosomal recessive cystinosis and tyrosinosis, x-linked recessive
lowe syndrome
Renal tubular acidosis type 2: Waste bicarb at the proximal tubule, also lose phosphate, calcium,
potassium, and phosphate. Calcium bicarbonate can leech from bones as an attempt to buffer retained H+.
Oncogenic hypophosphatemia: tumor secretion of phosphate regulating gene product
(PEX) waste phosphate in urine and decrease hydroxylation of 25-OH-D3. Can be in the small
bones of hands and feet, abdominal sheath, nasal antrum, and pharynx. Resolves after tumor
removal.
Phosphate deficiency or malabsorption: Parental hyperalimentation or low intake
End organ resistance to 1,25-OH-D3
Vitamin D-dependent Type II. Autosomal recessive. Have high levels of 1,25-OH-D3
Hypoparathyroidism: kid with numbness and tingling of the hands, develops t/c seizures. Low calcium, high PO4.
Psuedohypoparathyroidism = Albright hereditary osteodystrophy: High PTH levels, but body doesnt respond - so
they have all the findings of low PTH = low Ca, high PTH.
Short, delayed bone age, increased bone density, short fingers (esp 4th and 5th), cutaneous and subq
calcifications and calcifications of the basal ganglia. Also obese, round face, short neck, mental retardation
Give PTH no increase in PO4 in the urine
Dont confuse with Rickets: Schmid Metaphyseal Dysplasia.
Autosomal dominant. Presents with short stature, leg bowing, waddling gait, irregular long bone
mineralization. But normal levels of serum calcium, phosphorus, and alkaline phosphatase, along with normal
urine AA levels
High calcitonin is usually asymptomatic (e.g., medullary cancer of the thyroid) - will have normal calcium and
phosphate levels
Vitamin

Use

Deficiency

Excess

10

Vitamin A

Antioxidant, part of retinal

pigments, necessary for
differentiation of epithelial
cells into specialized tissues,
prevents squamous
metaplasia.

Night blindness, xerophthalmia

(dont make tears), keratomalacia,
conjunctivitis, abnormal tooth
enamel development, impaired
resistance to infection, poor
growth

Increased ICP (retin A, accutane),

anorexia, alopecia,
carotenemia, hyperostosis (pain
and swelling of long bones), poor
growth, hepatomegaly (Ito cells)

Dry Beri Beri = neuritis, muscle

wasting

Used to treat Measles and

AML, type 3
Vitamin B1
(thiamine)

In TPP, a cofactor for

dehydrogenase reactions in
TCA cycle, HMP shunt,
branched chain ketoacid
dehydrogenase

Wet Beri Beri = high output

cardiac failure from dilated
cardiomyopathy, heart failure
Wernicke Korsakoff in adults

Vitamin B2
(riboflavin)

Part of FAD and FMN,

cofactor for redox reactions
(like succinate
dehydrogenase in TCC)

Cheilosis, ocular problems

(keratitis, conjunctivitis), corneal
vascularization, seborrheic
dermatitis, poor growth,
photophobia, normocytic
normochromic anemia

Vitamin B3
(niacin)

Part of NAD, NADP. Made

from tryptophan.

Pellagra = dermatitis, dementia,

diarrhea

Facial flushing (prostaglandins),

pruritis, hyperglycemia and
hyperuricemia

Vitamin B5
(pantothenic
acid)

Part of CoA, a cofactor for

acyl transfers, and fatty acid
transfers

Dermatitis, enteritis/abdominal
pain, alopecia, adrenal
insufficiency depression,
hypotension. Muscle
weakness.

Vitamin B6
(pyridoxine)

Converted to pyridoxal
phosphate, a cofactor used in
transamination (ALT, AST),
decarboxylation, glycogen
phosphorylase. Used in
making heme, cystathione,
niacin, histamine,
neurotransmitters

Irritability, convulsions,
sideroblastic anemia due to
impaired hemoglobin synthesis
and iron excess

Sensory neuropathy

Cofactor for carboxylation

enzymes

Can be caused by antibiotics or

eating too many raw egg whites
(avidin binds biotin)

Vitamin B7
(biotin)

In older patients (e.g., iisoniazid),

periopheral neuropathy
?

Dermatitis, alopecia, enteritis,

anorexia, muscle pain. Relatively
rare.
Can have biotinase deficiency
cant make free biotin. Get
skin problems, neuro
problems, immune deficiency,
and metabolic acidosis.
Vitamin B9

Converted to THF, a

Macrocytic, megaloblastic anemia,

Extremely high levels

11

(folic acid)

Vitamin B12
(cobalamin)

coenzyme for methylation

rxns. Important for making
nitrogenous bases for DNA
and RNA

hypersegmented PMNs, glossitis.

Cofactor for homocysteine

methyltransferase and
methylmalonyl CoA mutase

Macrocytic, megaloblastic anemia,

hypersegmented PMNs,
paresthesias, degeneration of
dorsal columns, lateral
corticospinal tracts, spinocerebellar
tracts b/c of abnormal myelin.
methylmalonic acidemia.

Labs: increased homocysteine,

normal methylmalonic acid. Most
common vitamin deficiency!Seen
in pregnancy, alcoholism,
phenytoin, sulfonamides,
methotrexate.

stomach problems, seizure,

sleep disturbance, skin
reactions

Have increased homocysteine

AND increased methylmalonic acid
Vitamin C
(ascorbic
acid)

Antioxidant, facilitates iron

absorption (reduces to Fe+2),
needed for hydroxylation of
proline and lysine in collagen
production, needed to convert
dopamine to NE

Scurvy - swollen gums, brusing,

hemarthrosis, anemia, poor wound
healing, perifollicular and
subperiosteal hemorrhages,
corkscrew hair.

Predisposition to kidney stones

Weak immune response

Ancillary treatment for
methemeoglobinemia!
Calcium

Needed for mineralization of

bone and tooth enamel.

Calcium rickets angular

bowing of the legs, myopathy,
rachitic rosary, pectus
deformities, tetany, tooth enamel
defects

Vitamin D

D2 = ergocalciferol is from
plants

Rickets (elevated serum alkaline

phosphatase levels come first),
osteomalacia, infantile tetany
(hypocalcemia?)

Hypercalcemia, azotemia, poor

growth, nausea and vomiting
(calcium?), calcinosis of many
tissues.

Risk in conditions that impair

absorption of fat soluble vitamins
(liver failure, biliary atresia, CF).

Excess is seen in sarcoidosis

(increased activation of vitamin D
by epitheliod macrophages)

D3 = cholecalciferon is in
milk and formed in skin
via cholesterol 7-deOHcholesterol D3. Last
step requires sunlight!
25-OH D3 = storage form,
hydroxylated in the liver.
Defective production in
autosomal recessive Vitamin
D-dependent calcium
deficiency, type 1.

Risk in renal failure (kidneys have

1-alpha-hydroxylase), and Familial
Primary Hypophasphatemia (x
linked dominant) - defect in
reabsorbing phosphate and 1hydroxylation of 25-OH-D3.

1-25-OH-D3 = calcitriol =
active form, converted in
kidney proximal tubules by 1alpha-hydroxylase. Defective
in familial primary
hypophosphatemia.

Dx by measuring serum 25-OHD3, calcium, phosphorus, and

alkaline phosphatase levels. Xrays
show poor bone mineralization

12

Increases intestinal
absorption of calcium and
phosphate, increases bone
mineralization
Iron

Necessary for heme

production

Iron deficiency anemia (microcytic,

hypochromic, RDW > 20% as
opposed to 12-14% with
thalassemias)
Risk if the infant didnt get
supplementation while
breastfeeding. Milk is also low in
iron.

Vitamin E

Vitamin K

Protects RBCs and

membranes from free radicals
(E for Erythrocytes)

Hemolytic anemia in preemies

Cofactor for gamma

carboxylation of glutamic acid
residues on proteins required
for blood clotting (factors 2, 7,
9, 10, and proteins C, and S).
Made by intestinal bacteria.
Warfarin is a vitamin K
antagonist

Hemorrhage with increased PT

and PTT but normal bleeding time.

Degeneration of dorsal colums and

spinocerebellar tracts - can look
like B12 deficiency but no
megaloblastic anemia,
hypersegmented neutrophils, or
increased methylmalonic acid
levels
Water soluble forms can cause
hyperbilirubinemia

Babies have to get a vitamin K

shot at birth. They have sterile
intestines and cant make vitamin
K. Its not in breast milk, either!
Can also have deficiency after
prolonged use of broad spectrum
antibiotics.

13

Case 8: Diabetic Ketoacidosis

Usually due to increased insulin requirements from increased stress (e.g., infection). Excess fat breakdown and
increased ketogenesis from increased free fatty acids, which are then converted to ketone bodies (beta hydroxy
butyrate > acetoacetate). Must evaluate for infection!
Note that any infection can cause hyperglycemia - DKA is different because it comes with
ketoacidosis.
Symptoms = kussmaul breathing (rapid, deep, assoced with acidosis), nausea and vomiting, abdominal
pain, psychosis/delirium, dehydration elevated BUN and creatinine, hypotension, hypothermia. Have
fruity breath odor for exhaled ketones.
Can get cerebral edema - treat in the usual way.
Labs: hyperglycemia (400-800), increased H+, decreased HCO3 (anion gap acidosis), increased blood ketones,
leukocytosis, hyperkalemia with depleted intracellular K+ due to transcellular shift from decreased insulin
Treatment for DKA: aggressive volume repletion, give insulin, glucose (when levels are down to 250-300), potassium.
Low plasma pH and elevated ketones will correct in 8-10 hours. Serum bicarb can be low for 24 hours. Avoid giving
bicarb except in extreme scenarios - can cause hypokalemia, shift the oxygen dissociation curve to the left and
worsen oxygen delivery, overcorrect acidosis, worsen cerebral acidosis
Diabetes in general
Somogyi phenomenon: nocturnal hypoglycemic episodes manifested as night terros,
headaches, early morning sweating. Then a few hours later, counter regulatory hormones
hyperglycemia, ketonuria, and glucosuria.
Honeymoon phase: Up to 75% of newly diagnosed diabetics have progressive decrease in the
daily insulin requirement in the months after diagnosis, some even need no insulin. But then a few months
later, insulin requirement returns.
Case 9: Sickle Cell Disease
Diagnosed as part of newborn screening. Symptoms appear around 4-6 months as fetal Hgb is replaced with sickle
Hgb
1. Prophylaxis and treatment
a. Start penicillin by 2 months, folate by 6 months
b. Get baseline and periodic CBC and reticulocyte measurement screenings beginning
around 2 months.
c. Special vaccinations at 2 years: meningococcal and 23 valent polysaccharide
pneumococcal vaccine.
i.
Kids receive the conjugate pneumococcal vaccine as a routine matter
at 2,4, and 6 months of age.
d. Hydroxyurea can increase the production of fetal hemoglobin
2. Risks:
a. Sepsis: give antibiotics if the kid has a fever! Admit to the hospital. Strep pneumo is
the most likely cause of bacteremia even if vaccinated. Prophylax with penicillin until 5 y/o
b. Pain crises: can treat with morphine, hydromorphone. May need to admit.
i.
Prevent with hydroxyurea - risk of myelosuppression but less risky
than regular blood transfusions, which are used to treat exacerbations. Only used for
prevention with stroke
c. Acute Chest Syndrome: pulmonary infarction and infection severe cough,
SOB, chest pain. May have hypoxia, infiltrate on CXR. Give oxygen, fluids, blood
transfusion, pain meds, and antibiotics

14

d. Splenic sequestration: Risk in young kids, precedes splenic infarction. Symptoms

are abdominal pain, distention, or acute enlargement of the spleen, increasing pallor. Admit to watch
for cardiovascular collapse. Give blood transfusion!
e. 10% have acute stroke: Give partial or simple transfusions to reduce the percentage
of sickle cells. Might give chronic transfusions to reduce the risk of recurrence.
i.
Do transcranial Doppler ultrasound at well child visits to identify kids
with increased flow velocity in the large cerebral vessels
f. Aplastic crisis: Sudden severe anemia with low or absent reticulocytes (does not
involve reduced platelets or WBCs, unlike aplastic anemia). Presents with pallor, fatigue or lethargy.
Labs show low Hgb and low reticulocyte count.
g. Priapism in boys: Send to urology if it lasts more than 3-4 hours. Treat with fluids and
pain control, next resort is aspiration or irrigation of the corpora cavernosa. May need a blood
transfusion and surgery.
h. Vaso-occulsive crisis: Risk in dehydration! Be careful with vomiting and diarrhea.
Give IV fluids.
i. Stroke: Give blood transfusion stat to decrease the percentage of sickled cells in
circulation. Can monitor for narrowing of arteries with cranial ultrasound if fontanelle is still open
j. Gallstones from increased hemolysis and increased bilirubin production
Sickle cell trait: Have around 50% HgbS (A2, S2), 50% HgbA (A2, B2).
Generally asymptomatic. Most common symptom is paineless hematuria from sickling in the renal
medulla. Can also have isosthenuria (impaired concentrating ability). Less commonly have increased risk of
UTI, especially during pregnancy. Splenic infarction is rare, but can happen at high altitude
Case 24 from Family Medicine: Pneumonia
Pneumonia = infection of the lungs.
Pneumonitis = inflammation of the lungs from non-infectious source (chemicals, radiation, autoimmune, blood)
Pneumonia symptoms: productive cough, fever, pleuritic chest pain, dyspnea. Rapid breathing in young, altered mental
status in old people.
Diagnosis: CXR, sputum gram stain and culture, blood cultures
CXR is gold standard, but normal xray does not rule it out. Can be normal early in disease or if
dehydrated.
Cultures have low sensitivity (many false negatives), but positive result can guide treatment
Exam: look for ronchi or rales, egophony focal lung consolidation, dullness to
percussion pulmonary effusion
Potential complications: bacteremia, sepsis, parapneumonic pleural effusions, pneumonia
CA pneumonia
Typical: Most common in very young and older patients
Most often strep pneumo - acute onset, rusty sputum, fever and chills, lobar infiltrate.
Give penicillin.
H flu: underlying COPD. Give cefuroxime.
Moraxella catarrhalis
Staph aureus - often follows viral infections (influenza). Give erythromycin.
Atypical: More often in adolescent and YAs. Tend to cause bilateral, diffuse infiltrates
Mycoplasma pneumoniae - Can ID with direct fluorescent antibody testing on
sputum or by PCR of nasopharyngeal aspirate. Can get hemolysis as antibodies attach to RBCs.
Chlamydia pneumoniae,
Legionella pneumophila - often have diarrhea, too. Can ID with direct fluorescent
antibody testing on sputum or with urinary antigen testing. Give erythromycin.

15

Health-care associated pneumonia

Risk factors: intubation (oropharyngeal is less risky than nasopharyngeal), NG tube feeding,
preexisting lung disease, multisystem failure.
Reduce risk by keeping the head of the bed elevated during tube feedings, infection
control techniques (purel, etc).
Pathogens: CA pathogens plus aerobic gram negatives (psuedomonas, klebsiella, acinetobacter),
and gram + cocci like staph aureus. Incidence of drug resistant bugs (MRSA) is increasing.
Others:

Pneumocystis jiroveci in AIDS patients - see ground glass on CXR

Apical consolidation in TB
Aspiration pneumonia right lower lobe
Viral pneumonia - slower onset, may see flattened diaphragm from air trapping b/c of bronchospasm

Treatment:
Determine if the patient needs inpatient or outpatient treatment - toxic appearance, accessory muscle
use, low O2 sat, tachycardia, hypotension, altered mentation?
If respiratory distress ABGs
If low O2 sat oxygen via nasal canula
Pneumonia Severity Index - assigns patients a risk category based on age,
comorbid illnesses, specific exam and lab findings.
High risk: cancer, liver dz, renal dz, CHF, diabetes
Physical exam: tachypnea, fever, hypotension, tachycardia, altered
mental status
Labs: low pH, low serum sodium, low HCt, low O2 sat, high glucose,
high BUN, pleural effusion on CXR
Treat low risk: Classes 1 and 2 as outpatient, higher risk (3,4,5) in
hospital
Start abx.
Healthy patients w/ CA pneumonia:
Macrolide (azithromycin, clarithromycin)
Doxycycline
If in an area w/ high macrolide resistance:
Flouroquinolone (levofloxacin, moxifloxacin)
Beta lactam + macrolide
Hospitalized patients w/ CAP who dont need ICU - give IV abx
Flouroquinolone (levofloxacin, moxifloxacin)
Beta lactam + macrolide
HA pneumonia requires broader abx - dont use macrolide or flouroquinolone
alone!
Beta lactam + fluoroquinolone
Beta lactam + aminoglycoside
MRSA vancomycin
Duration of therapy
Strep pneumo: 72 hours afebrile
2 weeks for S aureus, psuedomonas, klebsiella, anaerobes, M pneumo, C pneumo,
legionella
Complications
Strep pneumo
Up to 30% get bacteremia! If so, die - or 60% in elderly!
Pleural effusion in 40% - do thorcentesis w/ gram stain + culture. 5% will
get empyema drain with chest tube or surgery.
Vaccinations

16

 Pneumovax for 65 yrs and older, and for any adult with cardiopulmonary disease, smokers, and
immune compromised patients. Revaccinate in 5 yrs if known to have rapid decrease in antibodies - nephritic
syndrome, renal failure.
Influenza for 6 months and older
Case 10: Pneumonia for Pediatrics
Notes on signs and symptoms:
Pleural rub: inspiratory and expiratory rubbing or scratching breath sounds heard when inflamed
visceral and parietal pleura come together
Staccato cough: Coughing spells with quiet intervals, often heard in pertussis and chlamydia
pneumonia
s to months
Can have abdominal pain from irritation of the diaphragm by pulmonary infection.
Fever is not a constant finding! E.g, chlamydia pneumonia is often afebrile.
Causes of pediatric pneumonia
60% of pediatric pneumonias are bacterial, most often strep pneumo. Causative bugs are ided in only
40-80% of cases.
Viruses are also common - RSV, adenovirus, influenza, parainfluenza, enteric cytopathic human
orphan (ECHO) virus, and coxsackie virus. Can diagnose with PCR of nasal secretions.
20% can have combined bacterial and viral
Newborns:
Enterobacteriaceae and Group B strep are most common. Others include staph
aureus, strep pneumo, and listeria.
Listeriosis: Early onset presents by day 3 with rash,
hepatosplenomegaly, rashes. Late onset presents with purulent meningitis
GBS: early onset is in 1st seven days, assoced with complications
like prolonged rupture of membranes and chorioamnionitis. Late onset is due to environmental
exposures.
Use ampicillin + gentamicin or cefotaxime. Chlamydia pneumonia doesnt present
for several weeks; causes mild pneumonia.
HSV is also a big concern.
Babies:
Chlamydia trachomatis, especially with conjunctivitis (presents 5-14 days after birth,
can have blood-stained eye discharge), staccato cough, tachypnea, eosinophilia, bilateral infiltrates on
CXR. Likely to be afebrile. Transmission typically occurs during vaginal delivery - 25% of babies born
to moms with chlamydia will get conjunctivitis, half of these will get pneumonia. Respiratory symptoms
can develop two weeks to several weeks later!
Treat with erythromycin or if older than two months, can also use
sulfisoxazole.
Viral possibilities include HSV, enterovirus, influenza, and RSV
> newborn period through 5 years:
Viral pneumonia with adenovirus, rhinovirus, RSV, influenza, and parainfluenza.
Bacterial includes pneumococcus and H flu.
> 5 years old:
Usually mycoplasma pneumonia, but others are possible except for GBS and listeria.
Treat for mycoplasma and strep pneumo - azithromycin or cephalosporins
Specific scenarios
Intubated ICU patient with central lines: Psuedomonas or fungal species like candida
Cystic Fibrosis: aspergillosis or psuedomonas
Zoster if skin findings and pneumonia
CMV if retinitis
Legionella if stagnant water
Aspergillosis if refractory asthma or fungus ball on CXR
Southwestern US - coccidiomycosis
Infected sheep or cattle - coxiella burnetti

17

Spelunking or farm work in the midwest - histoplasmosis

Idiopathic Pulmonary Hemosiderosis

Appear to have recurrent pneumonias because of fever, respiratory distress, and localized CXR
findings. But actually have pulmonary hemorrhages! Note recurrences, rapid clearing of CXR findings,
hemoptysis, and maybe digital clubbing (chronic process).
Diagnosis: Microcytic and hypochromic anemia, low serum iron, occult blood in the stool from
swallowed pulmonary secretions. Bronchoalveolar lavage shows hemosiderin laden macrophages.
Treatment: Some have hypersensitivity to cows milk and get better when on diary free diet (Heiner
Syndrome)
Pertussis (bortadella pertussis, gram negative coccobacillus)
Newborns are at high risk of infection following exposure regardless of moms immune status antibodies across the placenta wont entirely prevent the disease. Have to give exposed, susceptible people
erythromycin prophylaxis.
Immunity following infection is life long, no need for vaccine. Vaccine immunity declines with age, need
to boost.
3 phases:
(1) catarrhal phase with runny nose and mild cough, lasts 1-2 weeks
(2) paroxysmal phase with 20-30 min machine gun like bursts of coughing, with eyes
bulging and watering, followed by post tussive emesis. Lasts 2-6 weeks
(3) convalescent phase with resolution of cough and post-cough emesis, takes week
Diagnose with pertussis PCR testing
Treat with macrolides (azithro, erythro, clarithro)
Risk of pneumonia, weight loss from vomiting, subconjunctival hemorrhages, pneumothorax,
respiratory failure and death - especially infants < 6 months because of apnea
Severe coughing spells can cause subcutaneous emphysema (rice crispy crackles) - must get a CXR to rule out
pneumothorax
Case 11: Organophosphate Poisoning
Organophosphate poisoning is the leading cause of non-medicine ingestion fatality in kids. OPs are
found in pesticides - they irreversibly bind to cholinesterase in neurons, RBCs, and the liver cant stop
the effects of acetylcholine at the receptor sites.
Symptoms: Obtundation, seizures, apnea, and DUMBBELS
Diarrhea/defecation
Urination
Miosis
Bradycardia
Bronchospasm
Emesis and Excitation of muscles
Lacrimation
Salivation and Sweating
Dx: Decreased serum psuedocholinesterase and erythrocyte cholinesterase levels, but they dont necessarily
correlate to the level of exposure
Treatment:
Remove clothing, wash off toxins.
Ingestions gastric lavage or activated charcoal.
Antidotes = atropine (competitive inhibitor), pralidoxime (regenerates AChE if given early) especially good if the patient has a lot of muscle weakness, such as needing respiratory ventilation

18

Other toxic exposures:

Asbestos: Used in construction between 1947 and 1978. Generally sufficient to put up barriers/drop
ceilings
Mercury: GI complaints, ataxia, dysathria, paresthesias
Arsenic: Nausea, vomiting, abdominal pain, diarrhea. Can prolong QT SVT. Can also
manifest similar to Guillain Barre.
Salicylate poisoning: metabolic acidosis and respiratory alkalosis (tachypnea), hyper or
hypoglycemia, aciduria, dehydration, lethargy. Treat with sodium bicarbonate and acetazolamide to increase
excretion in urine.
Heavy metals: treat with dimercaprol
Hydrocarbons (gas, kerosine, furniture polish): Can cause respiratory distress from
aspiration! 6 hours after aspiration dyspnea, cyanosis, and respiratory failure. Treatment is
symptomatic, may need to ventilate. Dont induce vomiting, can cause more aspiration!
Drain cleaner: Do endoscopy in 12-24 hours to check extent of mucosal damage. Dont induce
vomiting (reexposure to caustic chemicals) or give large amounts of milk or water (risk of inducing vomiting)
Tricyclic antidepressant: sodium bicarbonate to correct acidosis. TCAs include the -iptylines and impramines: amitriptyline, nortriptyline, imipramine, desipramine, clomipramine, doxepin, amoxapine (last two
are oddball names)
Activated charcoal: Can be used to adsorb particles of toxins. Works for phenobarbital, TCAs (but give bicarb as 1st
line), and theophylline. Doesnt work for alcohol, acid, ferrus sulfate, or strong bases.
Case 12: Rectal Bleeding
Tagged RBCs can be used to scan for low flow bleeds
Anal fissures are the most common causes of hematochezia in infants, kids, and adolescents!
Minimize foods known to be constipating (diary), increase water intake, and avoid bulking agents like
fiber and psyllium
In newborns, the cause of hematochezia is most often a life threatening condition, but benign causes are more likely in
infants and kids
Allergic Proctocolitis:
Allergy to protein in cows milk, which is used in standard infant formulas. Soy protein is similar and
the cow protein can cross over into breast milk!
Example: Usually presents < 3 months with blood streaked stools and many stools per day, no other
symptoms. But can progress to enterocolitis with severe diarrhea, malabsorption, vomiting, and dehydration.
More common in boys. May have family history of atopy.
Can give elemental formulas made with AAs.
Meckel diverticulum
Pouch off the ileum b/c of a remnant of the omphalomesenteric duct. The endothelium
can undergo metaplastic change gastric mucosa that secretes acid and causes ulceration in
the adjacent ileal tissue.
Symptoms = intermittent painless rectal bleeding that usually appears < 2 years.
Diagnose with a Meckel radionucleotide scan = technetium-99m scan for gastric mucosa. Treat with
surgical excision to prevent rebleeding, obstruction, and diverticulitis
Necrotizing enterocolitis: 75% in preterm infants, only 25% in term infants
Swallowed blood syndrome: Day 2-3 of life. Baby swallows blood from delivery or moms nipple blood
in stool. Apt-Downey test distinguishes fetal blood from maternal blood - should be first test when a baby has
hematemasis or meconium

19

Hemorrhagic disease of the newborn: Risk in babies that dont get Vitamin K - e.g., if born at home.
Hirschsprung disease: Delay in passing meconium after birth
Intussusception:
Common cause of intestinal obstruction in kids < 2 years old.
Peristalsis tries to propel bowel contents past the obstruction episodic severe colicky
pain, patient is calm/lethargic between episodes.
Only 60% of kids have the classic red currant jelly stool.
Air contrast enema is diagnostic and therapeutic
Case 13: Acute Otitis Media
Most common causes of AOM are strep pneumo, nontypeable H flu, and Moraxella catarrhalis. Viruses can also cause
AOM.
Symptoms = fever, ear pain, and generalized malaise. Can have systemic symptoms. Most specific symptom is
bulging drum.
If kid is > 2 years and has few symptoms, can do watchful waiting. Otherwise start with amoxicillin for
10 days.
If it doesnt work within 3 days, can broaden abx coverage (augmentin,
etc). If several abx dont work tympanocentesis and culture of middle ear fluid
Can also give pain and fever meds. Decongestants, antihistamines, and corticosteroids are not
indicated!
Middle ear fluid can last several weeks! If it doesnt resolve or if recurrent episodes of suppurative OM
occur, esp. if hearing loss, myringotomy with PE tubes is often used.
Complications of AOM
Mastoiditis: watch for ear lobe pushed superiorly and laterally. Can require CT scan to confirm.
Surgical emergency! Can lead to brain abscess.
Temporal bone osteomyelitis
Facial nerve paralysis
Very young kids (infants, etc) with OM are at higher risk for bacteremia or other serious infection especially if irritable or lethargic. Hospitalization or other parenteral antibiotics are often indicated.
Strep pneumo bacteremia: Kid will have sudden onset high fever and high WBC
count
Cholesteoma: suspect if continued ear drainage for several weeks despite appropriate abx. Can be congenital or
acquired. Chronic middle ear disease can lead to the formation of a retraction pocket that can fill with pus and skin
debris.
Complications = hearing loss, cranial nerve palsies, vertigo, brain abscess, meningitis
Otitis externa aka swimmers ear = caused by psuedomonas, staph aureus, sometimes fungus (candida,
aspergillus)
Case 14: Neonatal Resuscitation
APGAR Scores: Do at 1 minute to evaluate well being just before delivery. If 1 minute score < 3
resuscitate immediately! But in practice, HR, color, and RR are used to determine need for resuscitation.
5 minute score is a measure of how successful resuscitation was.
1. Appearance/Color: 0 if blue and pale, 1 if body is pink but extremities are blue (acrocyanosis), 2 if
completely pink

20

2.
3.
4.
5.

Pulse/HR: 0 if absent, 1 if < 100 bpm, 2 if > 100 bpm

Grimace/Reflex: (response to catheter in nose): 0 if no response, 1 if grimace, 2 if cough or sneeze
Activity/Tone: 0 if limp, 1 if some flexion of extremities, 2 if flexion and active motion
Respiration: 0 = no effort, 1 = slow or irregular, 2 = good effort and crying

Baby born blue and floppy evaluate HR and respiration

If irregular respiration or HR < 100 bpm PPV by bag mask. Give naloxone if narcosis
(e.g., meperidine during delivery)
If HR < 60, give chest compressions
If mom gets meperidine during delivery baby can end up with narcosis = deep stupor or unconsciousness.
Give naloxone for meperidine, not for general anesthesia (not opiates)
In response to positive pressure ventilation, will have good HR but poor respiratory effort.
Other cases:
1. Baby born limp, apneic, bradycardic, + covered in meconium Intubate with an endotrach tube and
suction meconium out
2. Diaphragmatic hernia: Baby born w/ cyanosis, respiratory distress, scaphoid abdomen, heart sounds
on right side & decreased on left side. Herniated bowel into chest pulmonary hypoplasia. Do
endotrach intubation! Bag mask will increase bowel gas and make it worse!
3. Baby born lethargic with HR of 40: If HR < 60 despite PPV with 100% oxygen, then do chest
compressions for 30 seconds. If HR still < 60 epinephrine
4. Choanal atresia! Crying baby appears normal, but respiratory distress when she stops crying. When
crying, can breathe through mouth. But otherwise obligate nose breather until 4 months.
a. May be part of CHARGE syndrome: Colomboa, Heart defects, Atresia of the choanae,
Renal anomalies, Growth impairment, and Ear abnormalities/dearfness
Case 15: Cerebral Palsy
Static CNS dysfunction, usually caused by prenatal insult. Static in the sense that there is no ongoing degeneration,
but the actual manifestation can change over time (worsening contractures, etc). Most common childhood movement
disorder = 3-4/1000 births.
have seizures, 60% have mental retardation
Hemiplegia vs. diplegia = all four extremities, LEs > UEs
Nearly impossible to diagnose at birth because of CNS immaturity. Clinical exam at birth is a better evaluation than
Apgar scores.
Diagnose when the kid fails to meet milestones MRI, vision and hearing testing, maybe genetic
testing.
Examples of concerning findings: Moro reflex > 6 months, stepping response > 3 months, assymetrical
tonic neck reflex > 6 months
Stepping reflex: The walking or stepping reflex is present at birth, though infants this
young cannot support their own weight. When the soles of their feet touch a flat surface they will
attempt to 'walk' by placing one foot in front of the other. This reflex disappears at six weeks due to an
increased ratio of leg weight to strength. It reappears as a voluntary behavior around eight months to
one year old.
Tonic neck reflex: When the child's head is turned to the side, the arm on that side
will straighten and the opposite arm will bend (sometimes the motion will be very subtle or slight). If the
infant is unable to move out of this position or the reflex continues to be triggered past six months of
age, the child may have a disorder of the UMNs
Classify severity based on motor quotient = age when most children hit a milestone/age when patient hit the
milestone. E.g., walking at 14 months (most kids)/walking at 30 months = 0.48.
Minimal = 75% and up

21

Mild = 55 to 70%
Moderate = 40 to 55%
Case 16: Cystic Fibrosis

Triad of COPD, pancreatic exocrine deficiency, and abnormally high sweat electrolyte concentrations. Mean survival is
now > 35 years.
Lungs: Most have bronchiectasis by 1.5 years, but some might not have symptoms for several years.
Bacterial PNA caused by staph aureus, later psuedomonas (heavy, slime producing mucoid variety). Virtually
impossible to get rid of the bugs.
Often misdiagnosed as asthma - but clubbing is unusual in asthma and unusual in
children. It signals chronic pulmonary, cardiac, GI, or hepatic disease. Also look for nasal polyps.
Complications = PTX, hemoptysis, cor pulmonale
Pancreas: Causes poor growth, abdominal distention, rectal prolapse, steatorrhea, meconium ileus,
vitamin ADEK deficiencies
Vitamin E deficiency peripheral neuropathy and hemolytic anemia
Meconium ileus = obstruction that begins in utero underdevelopment of
distal colon (looks narrow). May see echogenenic bowel on prenatal ultrasound, then tiny
colon from nonuse at birth. Almost always cystic fibrosis! It is a surgical emergency! Can get
volvulus and perforation with peritonitis.
Liver: get fatty liver infiltration or focal biliary cirrhosis in many patients hepatomegaly,
esophageal varices, hypersplenism in teens, and cholethiasis in adults. Babies can have prolonged
jaundice from blocked ducts.
High sweat sodium chloride hyponatremic, hypochloremic, metabolic alkalosis
Diagnosis = positive sweat test (=pilocarpine iontophoresis) + (typical COPD OR exocrine pancreas deficiency OR
positive family history)
Sweat tests have false negatives and false positives! False negatives especially with edema and
hypoproteinemia. False positives with anorexia, hypothyroid, and nephrogenic diabetes
Genetic testing is an option. 90% are found to have two gene mutations, but sometimes cant detect in
other kids. Delta 508 on chromosome 7 is most common.
Infant screening is a blood test for high levels of pancreatic enzyme immunoreactive trypsinogen
(IRT test) - follow up with second IRT test or limited DNA testing. Can have false negatives! Do further testing if
symptomatic.
Can also do fecal elastase testing
CF infections:

Pnuemonia:
Staph aureus is the most common cause of pneumonia in kids with CF, especially
with influenza infection. Treat with IV vancomycin.
In adults, psuedomonas is a more common cause of pneumonia - kids just havent
been colonized yet. Treat adults with amikacin, ceftazadine, or ciprofloxacin
Aspergillosis is less common in kids than adults - would treat with itraconazole or voriconazole
Case 17: Acute Lymphoblastic Leukemia

Leukemia is 40% of childhood cancers.

Increased risk with Klinefelter (XXY), Bloom syndrome, Fanconi syndrome, ataxia telangectasia,
neurofibromatosis and chromosomal disorders like Down syndrome
75% is ALL, which peaks 2-4 years, boys > girls. Increased risk with Down syndrome, Fanconi
anemia. If one identical twin has it, > 70% chance that the other twin will two. Siblings have 2-4x increased risk
20% is AML

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Symptoms of ALL: leg and joint pain, fever, petechiae, hepatosplenomegaly - caused by bone marrow replacement
with cancer cells. WBC count can be high or low!!

Best initial screening test is CBC with differential, but almost 50% of kids with leukemia have WBC <
10k! often need a bone marrow exam to diagnose!
Normally have < 5% blasts - if > 25% blasts leukemia.
Also do LP and CXR - look for cancer in CSF and mediastinum
Lymphobasts are PAS positive (no auer rods) and pre B and pre-T cells are positive for TdT
Better prognosis: Girls, B cell
Worse prognosis:
Boys, hispanic or African American, < 1 year, > 10 years,
T cell type
t(9;22) in pre-B ALL = philadelphia chromosome, t(4;11) in AML
BC > 50k, lots of blasts in the CSF
Treatment:
1. Induce remission with prednisone, vincristine, and asparaginase
2. CNS intrathecal therapy: reduces CNS relapse from 50% to 3-6%
3. Consolidation and intensification to further target residual cancer cells - give multiple chemotherapies
in a short period
4. Maintenance with methotrexate, 6-mercaptopurine, vincristine, and prednisone for 2-3 years
Hold off on vaccinations during chemo.
Live vaccines are contraindicated until > 6 months after treatment for the kid and for all members of
the household
Inactivated vaccines arent contraindicated, but they wont do much good because of
immunosuppression
Differential:
Idiopathic thrombocytopenic purpura: Common in kids, often follows viral infection. Platelet levels <
20k bleeding and petechiae. But no anemia, hepatosplenomegaly, or leukocyte disturbances.
Treat w/ observation, IVIG, IV anti-D in Rh+ kids, immune suppression, steroids.
Aplastic anemia: pancytopenia and fever. But rare to have lymphadenopathy, arthralgia, bone pain, or
hepatosplenomegaly.
EBV, other viral illness: Fever, malaise, adenopathy, splenomegaly, lymphocytosis. Atypical
lymphocytes are common with these diagnoses!
Juvenile rheumatoid arthritis: Fever, arthralgias, limp. Can even have anemia, leukocytosis,
mild splenomegaly confusion! On CBC, leukocytes and platelet counts are normal to increased
with no blasts.
Leukemoid reaction: bacterial sepsis, pertussis, acute hemolysis, granulomatous disease, vasculitis.
Resolves when underlying condition is treated.
Other cancers infiltrate the marrow in clumps: Can cause pancytopenias. Includes
rhabdomyosarcoma, Ewing sarcoma, retinoblastoma, neuroblastoma
Hodgkin disease: Swollen glands, increasing cough, fevers, weight loss. Might look otherwise healthy.
Next step is CXR to look for mediastinal mass. Then biopsy the node. CBC will not be diagnostic, but
may show nonspecific findings of anemia, neutropenia, or thrombocytopenia
Case 18: Infant of Diabetic Mom
Gestational diabetes: Fasting glucose persistently > 95. Screen at 24-28 weeks.
Hypoglycemia: < 40

23

Maternal hyperglycemia fetal hyperinsulinemia fetal macrosomia (weight > 90%), but
normal height and head circumference because insulin doesnt affect bone or brain growth.
Big size means increased fetal oxygen requirements, and placental insufficiency can lead to perinatal
asphyxia and increased EPO.

Can cause neonatal respiratory distress and hyaline membrane disease.

Hyperglycemia hyperinsulinemia lower levels of cortisol delayed maturation of
pulmonary surfactant production
Can also be small from hypoxia.
After delivery, can get hypoglycemia! Lethargy, listlessness, poor feeding, temp instability, apnea,
cyanosis, jitteriness, tremors, seizures, respiratory distress
If 25-40 feed immediately. < 25 IV glucose
Congenital malformations result from hyperglycemia early in pregnancy.
Congenital heart disease: watch for poor color and tone, limited respiratory effort,
weak/slow pulse, persistent perioral cyanosis
Neural tube defects
Small left colon: presents with failure to pass meconium during first 2 days
of life abdominal distention and vomiting
Caudal regression syndrome = hypoplasia of the sacrum and lower extremities, rare
and generally only with IDM.
Polycythemia (Hct > 65) with hyperviscosity, hypocalcemia, hypomagnesemia, and hyperbilirubinemia.
Risk factors: maternal diabetes, delayed cord clamping (extra placenta blood goes to baby), and
maternal hypertension (impairs placental flow)
Most often manifests as lethargy, jitteriness, and irritabilty. Can manifest as respiratory distress with
tachypnea, cyanosis, and poor feeding - increased viscosity impairs blood flow to organs
Polycythemia is dangerous! If asymptomatic, treat with hydration (LR or NS). If symptomatic, treat with
partial exchange transfusion.
Can cause sinus and renal thrombosis - renal vein thrombosis presents as an
abdominal mass. Often oliguria, some will have hematuria and thrombocytopenia
Can cause NEC
Can cause seizures from thrombosis or just sludging of blood in the cerebral
microcirculation
Jaundice - test total bilirubin and Hct
Hypocalcemia from increased cellular uptake irritability, sweating, seizures. Happens
because delay in synthesis of PTH or decreased sensitivity. Can happen with polycythemia in
general - not just from diabetic mom (e.g., twin to twin transfusion syndrome). Also
hypomagnesemia.
Hypoglycemia from increased cellular uptake
Infant of mother with hyperthyroid:
Risk of thyrotoxicosis - tachycardia and tachypnea, irritability, hyperactivity, low birth weight with microcephaly, severe
vomiting and diarrhea, thrombocytopenia, jaundice, hepatosplenomegaly, heart failure. If severe, can be fatal if not
treated.
Hypothyroid baby: lethargy, poor feeding, delayed reflexes, persistent jaundice, hypotonia
Panhypopituitarism: apnea, cyanosis, severe hypoglycemia
Case 19: Gilbert Syndrome
1. Physiologic jaundice: Onset on Day 2-3 with bilirubin less than 12, mainly unconjugated. Disappears
by the end of the first week.
a. Happens in 60% of term and 80% of preterm because of limited ability to conjugate.

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b. Risk factors =
i.
Maternal diabetes, polycythemia,
cephalohematoma/bruising/swallowed maternal blood,
ii.
Prematurity, male, Asian,
iii.
Down syndrome, delayed bowel movement or upper GI obstruction,
iv.
Hypothyroid,
v.
Sibling with physiologic jaundice
2. Nonphysiologic jaundice
a. Higher levels of BR, persists longer
b. Causes include
i.
Septicemia,
ii.
Biliary atresia: conjugated hyperBR (direct > 20% of total) in the first
2 months with clay colored stools, dark urine, and enlarged liver
iii.
Hepatitis
iv.
Galactosemia: Galactose 1P uridyl transferase deficiency
cant digest galactose in cows milk or breast milk jaundice, vomiting, growth
failure.
v.
Hypothyroid,
vi.
CF,
vii.
Congenital hemolytic anemia (spherocytosis, Rh or blood type
incompatibility),
1. Spherocytosis: will see spherocytes on sphere. Can
manifest anemia in first day of life. Do the glycerol osmotic fragility test or the eosin-5maleimide test
viii.
Drug-induced
ix.
Gilberts syndrome: can look like extended version of physiologic
jaundice. More likely to look jaundiced after fasting. Caused by decreased activity of UDP
glucuronyl transferase - happens in 2-10%.
1. Severe impairment = Crigler Najjar syndrome.
Presents with high BR and encephalopathy
x.
Dubin Johnson: AR defect in transporting conjugated bilirubin. End
up with high direct bilirubin. Usually asymptomatic except for mild scleral icterus.
c. If appears within 24 hours, needs immediate attention!
i.
Erythroblastosis fetalis
ii.
Hemorrhage
iii.
Sepsis
iv.
Cytomegalic inclusion disease
v.
Rubella
vi.
Congenital toxoplasmosis
d. Breast milk jaundice: High levels of beta glucuronidase in breast milk deconjugate
intestinal bilirubin and increase enterohepatic circulation. Appears in 2-3 weeks, can reach levels up to
30. Levels gradually decrease with continued breastfeeding or can substitute formula for 12-24 hours
and levels rapidly drop
e. Breast feeding failure jaundice: Failure of lactation in the first week of life
dehydration and inadequate stooling increased enterohepatic circulation of bilirubin
and decreased bilirubin elimination. Might also see brick red urate crystals in the diaper
(sign of dehydration)
i.
Treat by increasing breastfeeds if possible - normal for newborn is 1020 mins/side every 2-3 hours
Unconjugated BR kernicterus: Risk when BR is > 18 or 20.
Lethargy, poor feeding, followed by toxic appearance with respiratory distress and decreased DTRs.
Can look like sepsis, asphyxia, hypoglycemia, and intracranial hemorrhage
Risk increased with acidosis and sepsis increases BBB permeability, hypoalbuminemia
reduced ability to transport unconjugated BR to the liver, and drugs that displace BR from
albumin.

25

Risk decreased with phenobarbital - induces glucuronyl transferase, which reduces jaundice

Diagnosis and treatment:

Full term, asymptomatic, low risk monitor serum bilirubin
Significant hyperBR get indirect/direct levels, Hgb, retic count, blood type, Coombs
tests (indirect = look for antibodies to RBCs in the blood, direct = look for antibodies attached to
RBCs), peripheral blood smear exam
Can measure BR with noninvasive, transcutaneous measurement!
Treat with phototherapy to solubilize the BR and render it excretable.
Exchange transfusion if conservative measures arent enough
Case 20: Asthma
Asthma exacerbation is characterized by the triad of bronchoconstriction, airway inflammation, and mucus plugging.
Median age of onset = 4 years.
Mechanism: Mast cells release IgE within 15-30 mins of the trigger. Causes vasodilation, increased
vascular permeability, smooth muscle constriction, and mucus secretion. Then 2-4 hours later, get the late
phase reaction = infiltration of inflammatory cells into the airway parenchyma chronic
inflammation. Hyperresponsiveness can then last for a week.
Risk factors: atopy, family history of asthma, RSV bronchiolitis early in life (40-50% of kids get
asthma!)
Half of kids grow out of asthma by young adulthood - less likely if have heavy exposure to
environmental triggers (smoke, pollution, allergens)
Pulsus paradoxus:Blood pressure varies in amplitude with respiration more than normal (> 10 mm Hg). Suggests
obstructive airway disease, pericardial tamponade, or constrictive pericarditis.
Initial management of asthma exacerbation: Oxygen, inhaled beta agonist, systemic dose of prednisone. May need
IVF. Get stat blood gases and monitor O2 sats.
Paucity of wheezes can signal severe airway obstruction and reduced air movement! Wheezing is
likely to increase as therapy allows more air movement.
Treatment:
1. Classify asthma as intermittent or persistent
a. Intermittent
b. Persistent
i.
Mild
ii.
Moderate
iii.
Severe
2. Identify triggers and minimize exposure
3. Medicines
a. Beta adrenergic agonists - reverse bronchoconstriction fast but do not inhibit the LPR.
Can use prior to trigger exposure or exercise to minimize the asthma response
b. Anticholinergics - inhibit the vagal response. Good for acute management, but little
value for chronic management
c. Anti-inflammatory agents i.
Corticosteroids are the most potent. Can use acutely (oral or IV
prednisone, prednisolone) or inhaled forms for chronic therapy
ii.
Others: cromolyn and nedocromil. Become effective after 2-4
weeks, only good in 75% of patients
d. Leukotriene modifiers - safe and effective anti-inflammatory meds in some patients
Sudden onset of respiratory symptoms in an infant most likely bronchiolitis. Often caused by RSV and
influenza A.
CXR often shows hyperinflated lungs with areas of atelectasis

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 Risk of apne and respiratory failure, especially if < 2 months. Risk of subsequent bacterial pneumonia
is very low.
Initial treatment = oxygen, supportive therapy. Could do a trial of nebulized albuterol or epinephrine
Case 21: Growth Hormone Deficiency
Height age: the age at which a childs measured height is at the 50th percentile
Constitutional growth delay: healthy child is growing more slowly than expected but still at a normal rate - usually
parallels the 3rd or 5th percentile AND one or both parents had the same issue and ultimately grew to normal height.
Growth rate slows down before age 2 and rate normalizes > age 2.
The bone age = height age indicates extra growth potential
Monthly testosterone injections can hasten puberty, which would eventually begin on its own without
treatment. May be indicated depending on how the kid is handling the psychological ramifications of being
shorter than his/her peers.
Familial short stature - bone age = chronologic age, indicating no extra growth potential
Predict boys final height = (fathers height + moms height +13 cm or 5 in)/2.
Predict girls final height = (father + mother - 13 cm or 5 in)/2
Growth hormone deficiency: 1 in 4000 kids. Slow growth rate that falls away from a normal curve. Often appear
younger than age and often chubby (weight age > height age).
Bone ages are delayed, indicating catch up potential.
Screen with IGF-1 or somatomedin C and IGF-BP3, confirm with GH stimulation testing
Treat with recombinant GH for several times per week until child reaches full adult height
Suspect a primary problem causing poor growth if: poor appetite, weight loss, GI symptoms, unexplained
fevers/HA/vomiting, weight gain out of proportion to height, dysmorphic features.
Anemia CBC
Chronic inflammatory disease ESR
Acidosis, renal abnormalities electrolytes
Hepatitis, liver dysfunction comp
Infection, renal disease urinalysis
Turner syndrome chromosomal analysis
Hypothyroid thyroid function tests. See delayed bone age. Growth should return to
normal with treatment.
Case 22: Group B Strep Infection
Sepsis in first week = early onset. 85% are in the first day. Infection is usually from moms GU tract.
GBS, E coli, H flu, listeria
Treatment: IV aminoglycosides (gentamicin, tobramycin) or penicillin (often ampicillin) - empiric
treatment combines both of them
Group B strep: Most common cause of neonatal sepsis from birth to three months! Initial findings are often respiratory
signs or hypotension. Half develop seizures within 24 hours.
Risk factors: prolonged rupture of membranes (> 18 hours), signs of early distress (apnea,
hypotension, low apgar), low birth weight, prematurity
Mortality is 10%! Another 12-30% have major neuro impairment.
Prevention is key! Screen and treat mom at 35-37 weeks. Do CBC and blood culture for preemies <
35 weeks.
Listeria: Baby can get it from placenta or from aspiration/ingestion at delivery. Mom will have flulike symptoms during
pregnancy

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 Early onset: Meconium, diffuse erythematous pustular rash, pallor, poor feeding, cyanosis. Marked
monocytosis.
Mortality from early onset is 30%.
Sepsis > 1 week = late onset sepsis: Sepsis after 7 days. Usually from caregivers environment.
Often staph aureus, E coli, klebsiella, pseudomonas, enterobacter, candida, GBS, serratia,
actinobacter, and anaerobes
Treatment = vancomycin or 2nd, 3rd gen cephalosporin
Signs and symptoms of neonatal sepsis can be subtle and nonspecific. E.g. hypoglycemia, metabolic acidosis,
jaundice. Temp instability, tachypnea, hypotension, and bradycardia are common in sepsis and meningitis.
If suspect sepsis, treat for at least 48-72 hours. Can continue treatment even with negative cultures if
clinical suspicion is high
Overwhelming shock is signified by pallor and poor capillary refill.
Must do a blood culture if suspect sepsis!
Transient Tachypnea of the newborn:
Incomplete evacuation of fetal lung fluid, more common in c sections. Can present as increased work of breathing and
tachypnea in first hour. Usually goes away in 1-2 days and doesnt require treatment unless baby needs O2. Suspect if
the baby is otherwise well (vigorous suck, good tone, good color) - will not cause CBC abnormalities or temp instability.
Conjunctivitis
1. Chemical: self limited, presents in the first several hours of birth and results from ocular prophylaxis
irritation
2. Gonococcal: 2-5 days after birth, give systemic abx. Very serious.
3. Chlamydia: 5-14 days after birth, treat with systemic erythromycin to prevent pneumonia. Does
increase the risk of hypertrophic pyloric stenosis.
Neonatal tetanus: Seen in infants born to unimmunized moms, often after umbilical stump infection. Presents in first 2
weeks with poor suckling and fatigue, followed by rigidity, spasms, and opisthotonus. High mortality due to apnea in 1st
week, sepsis from umbilical infection in second week.
CASE 23: SIDS
ALTE: Can be cardiac, respiratory, CNS, metabolic, infectious, GI. 50% unknown cause.
If feeding difficulties or emesis do a swallow study
If unusual posturing/movements EEG
Can consider EKG for prolonged QT or cardiac anomaly
Apnea: No breathing for at least 20 seconds. Preemies often have this, usually resolves by 37 weeks post gestational
age
Apnea of prematurity does not increase risk of SIDS!
SIDS: Most common cause of infant death 1 week - 1 year, especially 2-4 months. Must follow up with death scene
investigation to rule out trauma (intentional and accidental)
More common in winter, with African American and Native American babies. Non-obvious risk factors:
smoke exposure, prenatal opiates, overheating, male gender
Home monitoring: Does not decrease risk of SIDS in most cases. Only indicated for symptomatic
infants (apnea and bradycardia)
Pacifier use is protective
Case 24: Ventricular Septal Defect & Non-Cyanotic Congenital Heart Defects

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Widened Pulse Pressure: Increased difference between SBP and DBP, causing bounding arterial pulse - can happen
with fever, hyperthyroid, anemia, AV fistulas, and PDA
LESIONS WITHOUT CYANOSIS
L R shunt: Cause pulmonary congestion, but not typically cyanosis - most conditions without
cyanosis involve L R shunts. Can get systemic hypoperfusion from obstructive lesions
(pulmonic/aortic valve stenosis, coarctation of the aorta).
Can eventually get Eisenmenger syndrome: Pulmonary HTN from L R shunting of blood.
Can happen with large VSDs, atrioventricular canal lesions, and PDA
Ventricular Septal Defect: Most common heart lesion in kids
Signs: Holosystolic murmur at left sternal border, progressive worsening of respiratory distress and
wheezing. Murmur develops at 2-6 months with the fall in pulmonary vascular resistance that occurs in the
weeks after birth
Small defect:
Usually asymptomatic. Harsh, holosystolic murmur at the left sternal border. Murmur
develops at 2-6 months with the fall in pulmonary vascular resistance that occurs in the weeks after
birth. Evaluate with an echo to determine the location and size and rule out other defects
75% close spontaneously by 2 years with no long term problems!
Large VSD:
Murmur may be less harsh because less of a pressure gradient across the defect.
Softening of murmur can indicate increasing pulmonary resistance!
Generally get increased PVR after 1 year, but can happen earlier.
Can be irreversible (Eisenmenger) by age 2.
Dyspnea, feeding difficulties, growth failure, profuse sweating. Can lead to
infections and heart failure.
Usually not cyanotic, but may become dusky during feeding or crying
CXR: cardiomegaly and pulmonary vascular congestion, EKG shows biventricular
hypertrophy
Treatment: Tx like heart failure - diuretics (furosemide, chlorothiazide), afterload
reduction (ACE inhibitor), sometimes digoxin. Need extra calories.
Patent Ductus Arteriosus: In utero, ductus sends blood from pulmonary artery to the aorta to bypass the lungs
Usually closes by 10-15 hours after birth as pulmonary resistance decreases in response to oxygen.
Almost always closes by 2 days. Can be delayed with preemies, maybe impaired vasoconstrictive response
Small PDA:
Usually no symptoms, close with indomethacin or surgically (if medical therapy fails or
is CIed) because of the risk of infective endocarditis and paradoxical emboli
Large PDA:
Machine like continuous or holosystolic murmur along the left sternal border,
active precordium, widened pulse pressure. Close to treat heart failure and prevent Eisenmenger
syndrome
Ductus dependent lesions: PDA can be important for maintaining blood flow to systemic circulation
(coarctation or interruption of the aortic arch) or to the lungs (obstructed pulmonary valve). Keep ductus open
with prostaglandin E.
Atrial Septal Defect: Often asymptomatic. Isolated PFO is not considered an ASD
Fixed splitting of S2, systolic murmur in the pulmonic region (increased flow through pulmonary
artery), maybe diastolic murmur in the tricuspid region (increased flow across the valve). CXR shows enlarged
right atrium, right ventricle, and pulmonary artery with increased pulmonary vascularity.
Generally well tolerated during childhood but can cause pulmonary HTN in adulthood or atrial
arrhythmias from atrial enlargement
Large ASD: cause cause mild growth failure and exercise intolerance.

29

Atrioventricular Septal Defect = AV Canal Defect = Endocardial Cushion Defect

Contiguous atrial and ventricular septal defect with abnormal mitral + tricuspid valves. Can distinguish
from ASD because complete atrioventricular septal defects cause heart failure early in infancy.
Associated with Down Syndrome (ostium primum) and with Thrombocytopenia
Absent Radius Syndrome (can also have tetralogy of fallot)
Systolic murmur of increased pulmonary flow, lower left sternal border murmur (tricuspid valve), may
have wide fixed split of S2 or a single S2
CXR and EKG: enlarged heart, increased pulmonary vascularity
Must correct in infancy to prevent heart failure, growth failure, and recurrent pulmonary infections
Antibiotic prophylaxis (e.g., dental procedures)
1. Previous hx of endocarditis
2. Prosthetic valve or material for repair
3. Heart transplant
4. Severe or partially repaired cyanotic (R L) congenital heart defects
Endocarditis: Kids at greatest risk are those with unrepaired cyanotic heart disease, prosthetic material from a
previous repair, or prior history of endocarditis.
Can present as fulminant disease with shock, but subacute form presents with low grade fever, weight
loss, lethargy, sleep disturbances, arthralgias, and myalgias. Classic signs like tender osler nodes on fingers
and toes, janeway lesions (nontender hemorrhagic lesions on hands and feet), and splinter hemorrhages are
rare.
Usually strep viridans and staph aureus, but can be coagulase negative staph, strep pneumo, and
HACEK bugs (haemophilus, actinobacillus, cardiobacterium, eikenella, and kingella). If have a positive blood
culture, admit, begin vancomycin, and repeat cultures.
Benign murmurs
1. Benign Pulmonary Flow Murmur: Systolic murmur in the pulmonary region that does not radiate,
has no click, and no signs or symptoms of cardiac disease (clubbing, cyanosis, exercise intolerance)
2. Peripheral Pulmonic Stenosis: moderate intensity murmur in the mitral area that radiates to the
back. Similar murmur noted in the right axilla. Baby shows no signs of heart problems.
3. Venous hum: low pitched murmur heard at the sternal notch or under the clavicle only when the kid is
upright
4. Still vibratory murmur: high pitched musical systolic murmur heard best at the left sternal border in
the supine position
Congestive heart failure: pallor, dyspnea, tachypnea, tachycardia, and cardiomegaly are all common signs
regardless of the cause of CHF
Myocarditis: Most common causes are adenovirus and coxsackievirus B. Watch for heart failure symptoms after viral
illness - can mix up with pneumonia! Dyspnea, syncope, tachycardia, cardiomegaly, hepatomegaly, nausea, vomiting
ECG shows ventricular and left atrial dilation and poor ventricular function.
Can have new holosystolic murmur in the mitral region = mitral regurgitation from dilated myocardium!
Treat with diuretics and ionotropes
Glycogen storage diseases: Heart wall thickens
Irregular rhythms
Supraventricular tachycardia: HR > 250 with little rate variability and a P wave before every QRS.
Treat with carotid massage, immersion of the face in cold water, or voluntary straining. If not successful, give
IV adenosine. Verapamil is contraindicated in babies because can cause acute hypotension and cardiac
arrest.

30

 Wolf Parkinson White: 70% of WPW syndrome have episodes of SVT - especially
triggered by OTC sympathomimetics. Will become pale, stop running around, and then resume play
later.
Bradycardia: Treat with transthoracic pacing
V fib with acute arrest: Precordial thump might help
Prolonged QT syndrome: causes syncope during late childhood or early adolescence. Might see
arrhythmias during episodes, esp v fib. Treat with propranolol and pacemaker if symptomatic.
Jervell-Lange-Nielsen syndrome: Autosomal recessive, associated with deafness
Romano-Ward syndrome: Autosomal dominant
Neonatal lupus: Rare manifestation of maternal IgG antibodies. Thrombocytopenia, neutropenia, rash, liver
dysfunction, and congenital heart block - all but the heart block resolves. Heart requires pacing.
Hypertrophic cardiomyopathy: Autosomal dominant, esp common in African-Americans
Murmur decreases when LV size increases, because outflow obstruction is reduced - so increasing
preload and increasing afterload will decrease the murmur. Conversely, reducing preload and reducing
afterload will intensify the murmur (e.g., valsalva)
Fibromuscular dysplasia: The most common cause of secondary HTN in kids, causes 20% of renal HTN. \
Will have a hum or bruit in the costovertebral angle due to well-developed colaterals. Angiography
shows a string of beads pattern on the renal artery.
Case 25:Transposition of the Great Arteries & Cyanotic Congenital Heart Defects
Cyanosis - peripheral cyanosis is common, may be normal. Central cyanosis is always abnormal! Involves tongue,
gingiva, buccal mucosa.
R L shunts cause cyanosis!
Characterized by decreased pulmonary artery blood flow blue blood bypasses the lungs
and goes to the body. Occurs whenever pulmonary blood flow is decreased
Pulmonary stenosis, TGA
Often manifests after the PDA closes (ductus dependent lesion), can keep it open with PGE
Can diagnose RL shunt across the ductus by comparing the pulse ox readings of the
body areas served prior to the ductus (earlobe, arm) with body parts served after the ductus
(legs)
Risk of endocarditis and stroke!
Endocarditis risk: blood goes from right to left without being filtered by the lungs, where
bacteria are typically filtered and removed by phagocytosis. Also have poor brain perfusion
because of chronic hypoxemia, metabolic acidosis, and increased blood viscosity from secondary
polycythemia tendency for bacterial seeding at the grey white junction.
1. Transposition of the Great Arteries: 5% of kids with congenital heart disease; most common
cyanotic lesion
a. CXR shows egg on a string (narrow mediastinum) with normal to increased pulmonary
vascularity, though it can be initially normal and take 1-2 weeks to look weird
b. Because the aorta is located in front of the pulmonary artery, the S2 aortic
component is better heard than than the soft pulmonic S2 component hear a single S2
c. Initial management: create an atrial septum with cardiac catheterization!
Immediate palliative effect. Then definitive surgery
2. Pulmonary valve stenosis
a. Cyanosis and exercise intolerance are proportional to the degree of stenosis.

31

b. Pulmonic region systolic murmur that radiates to the left infraclavicular area or to the
back, plus systolic click. If severe, causes right heart enlargement.
c. Tx: Valvuloplasty through cardiac catheterization
d. Associated with Noonan Syndrome - formerly called the male Turner syndrome, it
happens in both sexes. Short, downslanting eyes, ptosis, low set and malformed ears, webbed neck,
shield chest, pulmonic stenosis and crypt orchidism
3. Tetralogy of Fallot
a. Pulmonary stenosis, large VSD, overriding aorta, right ventricular hypertrophy
b. Boot shaped heart with decreased pulmonary vascularity
c. Tetralogy spells = hypercyanotic spells, can be random or brought on with
activity - can bring on infudibular spasms that worsen RV outflow obstruction. Kids will
squat to increase systemic resistance increase pulmonary bloodflow
d. Associated with Thrombocytopenia and Absent Radius Syndrome (can also get
ASD)
e. Treat with knee-chest position to increase systemic vascular resistance (encourages
blood to move into the stenotic pulmonary artery), inhaled oxygen to stimulate pulmonary vasodilation
and systemic vasoconstriction, morphine to relax the patient, and IVF to improve RV filing and
pulmonary flow.
4. Tricuspid Atresia
a. No outlet between RA and RV blood goes from RA to the left heart
through PFO or atrial septal defect, or might have VSD.
b. Have decreased pulmonary vascularity
c. Ebstein anomaly - the septal part of the tricuspid valve is displaced downward into
the right ventricle, causing atrialization of the RV - get a big RA and small RV. Overall heart size can
be normal or massive
5. Total anomalous venous return
a. Snowman appearance on CXR - supracardiac shadow caused by anomalous
pulmonary veins, with increased pulmonary vascularity
6. Hypoplastic left heart
a. Cardiomegaly and increased pulmonary vascularity
Case 26: Juvenile Idiopathic Arthritis
JIA is the most common rheumatologic disorder in kids. Onset prior to age 16, symptoms last 6+ weeks. 50% have
symptoms into adulthood
1. Systemic onset disease
a. Daily high spiking fevers for 2+ weeks, rash and arthralgias that wax and wane w/ the
fever, lymphadenopathy, organomegaly. Can also get pericarditis (friction rub, pain with
inspiration/coughing, better when leaning forward, low voltage QRS and ST elevation), hepatitis,
pleural effusion, and encephalopathy.
b. RF and ANA are usually negative
2. Polyarticular disease
a. 5+ joints involved, often central - cervical spine, TMJ, hips and shoulders are most
common
b. RF+ or RF-. If +, disease tends to resemble adult RA
3. Oligoarticular JIA - most common!
a. < 5 joints - most often the knee, then the ankle.
b. Often ANA+
c. Must do regular ophthamologic screenings - 25% get anterior uveitis (iris and ciliary
body inflammation). Eye disease doesnt parallel the arthritis activity.

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Diagnosis
Depends on the kind of JIA, but all are supported by elevated WBC (inflammation), elevated platelets
(inflammation), and anemia (chronic disease). Elevated ESR.
Treatment: NSAIDs, steroids, methotrexate (DHF reductase inhibitor)
Differential for joint pain
Septic arthritis - larger joint effusion than with transient synovitis, with warmth and local tenderness
ESR (> 40) and CRP (> 3) are also higher than with transient synovitis, when ESR
might be 20-40 and CRP is < 3
Gonococcal arthritis (sexually active)
Parvovirus B19: Causes Fifth Disease in kids
Runny nose + low grade fever 1 week of arthritis involving hands,
wrists, knees, ankles. Flushed cheeks slightly itchy red macular/reticular rash all over
the torso and proximal extremities.
Targets RBC precursors - healthy patients will have mild anemia w/out reticulocytes!
Patients with hemolytic disease: develop a transient aplastic
crisis. Poorly functioning marrow in a patient with RBC lifespan of 30 days
profound anemia
Patients with immune deficiency - can be chronic infection and lead to
life threatening chronic anemia
Pregnant patients: can cause severe anemia in fetus hydrops
fetalis and death
Toxic/transient synovitis:
Acute joint pain (often hip) following illness. No fever, normal range of motion, WBC,
and ESR. Might see joint effusion on ultrasound.
Can diagnose based on exam (can bear weight, look okay, no fever) and labs (no
increased WBCs, only mildly increased ESR or CRP). But should do xray of the hip to rule out
legg-calve-perthes disease (idiopathic avascular necrosis of the hip)
Treat with rest and NSAIDs
Reactive arthritis: Cant see (conjunctivitis), cant pee (urethritis), cant climb a tree (arthritis).
Follows GI infections (shigella, yersinia, salmonella, campylobacter), or chlamydia
infections
Avascular necrosis: Restricted movement with limited internal rotation and abduction of the hip, but
no local warmth or tenderness. Common with sickle cell.
Legg calve perthes disease: Idiopathic osteonecrosis of the femoral head. Usually in
boys 4-10 years old with insidious onset hip pain and antalgic gait. Might have limited internal rotation
and abduction of the lip
Rheumatic fever: Jones criteria = migratory polyarthritis, carditis,subq nodules, erythema marginatum, and
syndenhams chorea. Watch out for untreated sore throats! RF is highly unlikely if the infection was treated.
2 major criteria or 1 major and 2 minor, or either syndenhams chorea or carditis (think jOneS).
Manage with rest and NSAIDs.
Erythema marginatum: faint, erythematous rash on trunk and limbs, has sharp borders like puzzle
pieces
The arthritis can migrate - usually wont do that in JIA. Also, JIA cant be diagnosed until the arthritis
has been there for > 6 weeks
Can mix up serum sickness-like reaction with rheumatic fever: hypersensitivity reaction 1-2 weeks after certain
drugs (penicillin, amoxicillin, bacterm, cefaclor). Get fever, hives, lymphadenopathy, and arthralgias. Should resolve
with withdrawal of the medication and does not represent a true drug allergy.
Case 27: Macrocytic (Megaloblastic) Anemia Secondary to B12 deficiency

33

Macrocytic anemia: In addition to B12 and folate deficiency, also associated with hypothyroidism and trisomy 21. If
these are normal, consider bone marrow pathology (leukemia, myelodysplasia).
B12 is in meat, fish, eggs.
B12 and folate deficiency will also cause a smooth, red, tender tongue.
Can get malabsorption when terminal ileum is absent or inflamed.
Juvenile pernicious anemia: Cant secrete intrinsic factor. Onset in first few years when
transplacental B12 is exhausted. Sx = worsening irritability, loss of appetite, decreased activity. Risk of
permanent neuro damage! Give IM B12.
Fish tapeworm diphyllobothrium latum - uses B12 for growth and making eggs, also inactivates
the B12-IF complex ileum cant absorb B12. Treat with praziquantel.
Goats milk is low in B12, folate, and iron. Risk of brucellosis if not pasteurized
Fanconi anemia also causes progressive pancytopenia and macrocytosis- via chromosomal breaks.
Symptoms are short stature, microcephaly, abnormally bent thumbs or absent thumbs,
hypogonadism,horseshoekidney, hypo/hyperpigmented skin areas, cafe au lait spots, large freckles,
strabisumus, low set ears, and middle ear problems.
Average age at diagnosis is 8 years
Microcytic anemia:
Thalassemias: Can have teardrop cells and target cells
Alpha thalassemia: Will have normal Hgb electrophoresis!!
Beta thalassemia: Will have increased levels of HgbA2 (A2, delta2)
Beta thalassemia minor/trait: Will have increased levels of
hemoglobin A2 (2 alpha chains and 2 delta chains). Have hypochoromic microcytic anemia
with some target cells, fewer than with HgbC. Usually no problems.
Beta thalassemia major (B0B0): Presents at 6 months with
progressive anemia to the point of heart failure, hepatosplenomegaly, and weakness. Need
blood transfusions every month to avoid death. Will have some target cells, but fewer than
HgbC
Malabsorption:
Celiac disease: Watch out for dermatitis herpatiformis and an associate with Type 1
DM. Can screen with IgA anti-tissue transglutaminase antibody (very sensitive). Upper GI endoscopy
with small bowel biopsy confirms the diagnosis
Normocytic anemia
Hemoglobin C: Autosomal receissive mutation in B chain of Hgb (glutamate lysine). In
heterozygous state, no anemia, but will have target cells and Hgb C crystals (hexagonal and
eosinophilic). Homozygous state causes moderately severe hemolytic anemia, reticulocytosis,
and splenomegaly with lots of target cells.
Diamond Blackfan syndrome (DBS) is also called congenital hypoplastic anemia (not pancytopenia)
associated with congenital anomalies like webbed neck, cleft lip, shield chest, and triphalangeal thumbs
Case 28: Lead Toxicity
Blood Lead Level screening
Do BLL screening in at-risk kids rather than universal screening.
Blood lead level doesnt reflect total body lead because a lot of lead is stored in other
tissues like bone BLL can rebound after chelation therapy as lead leaves bone! Only repeat chelation if
BLL is > 45, otherwise just reassure and repeat testing in 3 months.
Signs of Lead Toxicity: Seizures, neuro changes, abdominal complaints. E.g., anorexia, hyperirritable, altered sleep,
decreased play, regression - especially speech, vomiting, ataxia, altered consciousness, seizures.
Treatment

34

 There is no safe lead level - even low levels have negative effects. But generally only chelate > 45
ug/dL, but if symptomatic, admit to the hospital and give chelation therapy
Options: calcium sodium ethelyeme diaminetetraacetic acid (CaEDTA), meso2,3,-dimercaptosuccinic acid (DMSA, succimer), 2,3-dimercaptoproanol
< 45 follow up BLL, education. If 20-45, neuro monitoring, abdominal xray, and
environmental investigation. Also do these things if BLL increases or stays above 15 for 3
months.
> 45 chelation therapy, neuro and abdominal studies
> 70 hospitalize plus all the previous interventions
Other exposures:
1. Mercury neuro symptoms = ataxia, tremors, dysarthria, memory loss, altered sensorium
(vision, hearing, smell, taste), dementia and death.
a. In utero exposure low birth weight, microcephaly, seizures
2. Arsenic acute exposure causes severe GI symptoms, chronic causes skin lesions and
neuropathy/encephalopathy
3. Alcohol hypoglycemia
4. MDMA/Ecstacy stimulant effects = HTN, dilated pupils, hyperthermia
Case 29: Acute Post-Strep Glomerulonephritis
Post Strep glomerulonephritis: Follows strep pharyngitis (1-2 weeks) or impetigo (3-6 weeks) in 10-15% of
nephrogenic infections. Common 5-15 yrs. Usually completely resolves in a few weeks.
Periorbital edema, mild HTN, RBCs and protein in urine. Decreased UOP causes circulatory
congestion from volume overload.
Labs: low C3, normal C4, anti-streptolysin O, anti-DNase B (most reliable) - if both C3 and C4 are
low, consider something else!
Note: rheumatic fever only follows pharyngitis, not impetigo!
Treatment:

Mainly supportive. Can use calcium channel blockers to reduce HTN. Steroids arent helpful!
Antibiotics reduce RF risk, but not PSG risk!

Differential
IgA/Berger nephropathy: recurrent painless hematuria, usually preceded by URI. Can develop
chronic renal disease over decades. Have IgA in the mesangium
H-S purpura: Common cause of nephritis, peaks 4-5 yrs. Have IgA in the mesangium.
Lupus nephritis: consider if hematuria and C3 dont resolve in 6-12 weeks. Facial rash,
photosensitivity, oral ulcers, hepatomegaly, arthritis, nephritis. Positive ANA, low C3 and C4
Benign familial hematuria: autosomal dominant condition that causes intermittent or persistent
hematuria without progression to renal failure. Thin basement membrane
Hemolytic Uremic Syndrome: endothelial cell swelling with fibrin deposition
Rapidly progressive glomerulonephritis: crescentic glomeruli
Goodpastures Syndrome: nephritis + pulmonary hemorrhage
Alport syndrome: genetic defect in collagen synthesis abnormal BM formation.
Hematuria, proteinuria, renal failure by 20s or 30s. Also deafness and maybe eye problems
If protein in urine is an isolated sign (e.g., no symptoms, no WBCs or hematuria), then recheck twice at a later date
before doing additional workup. Can be benign.
Transient proteinuria is very common in kids - caused by fever, exercise, seizures, stress, or volume
depletion.
Orthostatic proteinuria is common in boys - protein in urine when upright, but goes away when
recumbent.

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Case 30: Precocious Puberty

Tanner Staging
1. Breasts: 1 = none, 2 = breast bud, 3 = + breast and areola growth, 4 = nipple + areola mound, 5 =
adult
2. Hair: 1 = none, 2 = straight and fine, 3 = coarsening and thickening, 4 = looks like adult but limited
area, 5 = adult
3. Penis/testes, 1 = nothing, 2 = testes increase and scrotum reddens, 3 = penis lengthens, 4 = penis
widens, 5 = adult
Delayed puberty = no secondary sex characteristics by 13 yrs in girls or by 14 yrs in boys
Precocious puberty = onset of secondary sex characteristics before 6-8 yrs in girls and before 9 yrs in boys. Involves
onset of all secondary sexual characteristics (body odor, pubic hair, etc) not just a few - if only a few, consider
psuedopuberty from exogenous hormones or tumor.
Can also have premature adrenarche (early hair) or premature thelarce (early breasts only,
estrogen related - ovarian cysts and transient gonadotropin secretion)
Diagnosis: CT, MRI, pelvic ultrasound, can do GnRH stimulation test.
To determine if precocious puberty is central or peripheral, first ask if bone age is advanced?
Yes measure basal LH. If high central, if low, do GnRH test high LH means central,
low means periphera.
If central, must follow up with an MRI to rule out hypothalamic or pituitary tumors, then
treat with GnRH agonist to prevent premature growth plate fusion
No peripheral.
1. True precocious puberty = CNS problem involving the hypothalamic-pituitary-gonadal pathway. Must
rule it out in young patients.
a. Diagnosis:
i.
Bone age is advanced beyond chronologic age! Then test basal
leutenizing hormone (in boys) - if high, its central gonadotropin-dependent precocious
puberty. If low, give GnRH stimulation test - high levels of LH mean that it is central. Low levels
of LH mean that it is peripheral, non-central problem.
b. Treatment:
i.
GnRH agonists - desensitive the pituitary to GnRH (after ruling out
tumor with MRI)
ii.
CNS lesions causing puberty without neuro symptoms are rarely
malignant and seldom require neurosurgery.
c. McCune Albright disease = bone pathology, cafe au lait spots, EARLY puberty (even
in infants)
2. Precocious psuedopuberty = non-central problem. Could be exogenous hormones (OCP) or tumor
of the ovary, testes, or adrenal gland.
a. With tumors and exogenous estrogen, they suppress the pituitary gland, so THEY
CAUSE JUST A FEW ISOLATED SIGNS OF PUBERTY, NOT ALL OF THEM - e.g., premature
telarche and/or vaginal bleeding, but no pubic hair, body odor, or acne
b. Diagnosis: Will have age-appropriate bone age, or older bone age but low LH with
GnRH stimulation.
c. Congenital adrenal hyperplasia: disorder of steroid synthesis leads to deficiency of
cortisol and overproduction of adrogen intermediaries like 17 alpha hydroxyprogesterone
Isolated premature adrenarche: Caused by increased adrenal adrogens. Have body odor, oily hair and skin, acne,
pubic hair, axillary hair.
Labs may show slightly elevated DHEA-S, but testosterone levels are usually normal.

36

Risk factor for PCOS, type II DM, and metabolic syndrome - especially if obese
Can give reassurance if bone age is normal, same think with isolated premature thelarche

Obesity can cause:

Central activation of puberty: adipose cells stimulate leptin secretion, which activates the
hypothalamus-pituitary-gonadal axis, which increases LH and FSH
Peripheral activation of thelarche: insulin increases ovarian estrogen production
Peripheral activation of adrenarche: insulin increases adrenal androgen production
Case 31: Ambiguous Genetalia
Hermaphroditism: discrepancy between gonads and external genetalia. True hermaphrodites have both kinds of
gonads
Psuedohemaphroditism in girls: Most often congenital adrenal hyperplasia, but can also be caused by maternal
exposure to androgens
Psuedohemaphroditism in boys: testosterone dyssynthesis, 5alpha reductase/DHT deficiency, androgen
insensitivity (= testicular feminization)
Congenital adrenal hyperplasia: Autosomal recessive disorder of adrenal steroid synthesis due to enzyme deficiency
(usually 21 hydroxylase)
21 hydroxylase takes (1) progesterone downward toward aldosterone and (2) 17 hydroxy
progesterone down toward cortisol - if missing, cant make aldosterone or cortisol. Instead shunt precursors
rightward via 17 alpha hydroxylase - towards androgen precursors!
Cortisol deficiency can end up with increased pigmentation
Aldosterone deficiency salt losing! End up with dehydration, can become very ill. In
boys, wont have the abnormal virilization cue for diagnosis - symptoms can mimic pyloric
stenosis, intestinal obstruction, heart disease, cows milk intolerance, and other causes of FTT.
Case 32: Primary Syphillis
1. Primary syphilis presents with chancre (painless ulcer with indurated base) 2-3 weeks after exposure
to treponema pallidum.
2. Secondary syphillis: 2-3 months later, get malaise, fever, rash (often hands and soles)
3. Tertiary syphilis: 10 years later in 15% of untreated case - gummas, aortic aneurysms, neurosyphilis
with seizures, meningitis, or MSK deficits
Diagnosis of syphillis
Rapid screening assays: RPR and VDRL can have false positives.
Treponemal assays: FTA-ABS and TP-PA are organism specific
Can use dark field microscopy.
If neuro symptoms LP
Treatment of syphillis: Penicillin or tetracyclines (doxy) if allegic
Chancroid: painful ulcer with exudate caused by haemophilus ducreyi. May have tender inguinal lymphadenopathy
PID: Caused by chlamydia or gonorrhea
Suspect chlamydia with dysuria, clear urethral discharge, and leukocyte esterase on urinalysis. Can
diagnose with urine test.
Suspect gonoccal infection with pustular rash (signals disseminated infection)
Can progress to Fitz Hugh Curtis Syndrome = ascending pelvic inflammation and inflammation of the
liver capsule

37

STDs generally
Lymphogranuloma venereum: caused by chlamydia trachomatis - can culture or do serum antibody
tests. Few small papules that bcome pustular, erode, and ulcerate over a few days. At the same time, get
painful, erythematous, small vesicles
Diagnosis: Can culture with chocolate agar or do serology testing
Haemophilus ducreyi: causes chancroid. Painless papule on genitals that resolves, then unilateral
draining inguinal lymphadenitis - can be confused with lymphogranuloma venereum, but occurs after ulcer has
healed, rather than at the same time as with LV.
Diagnosis: PCR or antibody testing is best. Difficult to culture

Case 33: Pityriasis Rosea

Pityriasis rosea: Benign childhood skin eruption of slightly itchy oval or round lesions, 1 cm or less in diameter, with
raised edges and pinkish in color, often scale on the surface. Have a herald patch 5-10 days before progression, which
often follows the Christmas tree pattern, developing along cleavage patterns
Must test for secondary syphilis if sexually active or if lesions on the palms and soles!
Guttate psoriasis: Variant of psoriasis in kids - sudden eruption of psoriasis on the trunk, face, and proximal limbs.
Often small oval or round lesions that follow a strep infection. If give abx for strep, rash often improves.
Nummular dermatitis: Extremely itchy coin sized lesions on extremities, butt, shoulders. Lesions appearance varies
widely - can be boggy, vesicular, weepy, or dry and scaly. Treated like atopic dermatitis with topical corticosteroids. If
chronic, can cause lichenification.
Pityriasis lichenoides chronica: benign condition in kids. Many 3-5 mm reddish brown papules covered with gray
scale on the trunk and extremities. Can become vesicular, hemorrhagic, crusted, or superinfected. In 2-6 weeks, turn
flat and hyper or hypopigmented. Treat with steroids, sometimes erythromycin.
Pityriasis alba: Hypopigmented macules with fine scale, not itchy. Thought to be caused by dry skin. Borders arent
sharply demarcated can distinguish from vitiligo.
Tinea corporis = Ringworm! Superficial fungal infection - starts as an erythematous papule that expands to form a
circular, scaly, erythematous lesion with raised borders and central clearing. Treat with antifungals (terbinafine). Wont
have as many lesions as pityriasis rosea.
Lichen simplex chronicus: Chronic localized dermatitis with round or oval lichenified patches
Erythema Toxicum: Common in newborns. Eosinophils in the skin. No other symptoms.
Case 34: Bacterial Meningitis
Remember ABCs! They always come before diagnostic studies!
Symptoms: fever, headache, stiff neck (note that nuchal rigidity is not seen until 12-18 months)
Brudsinski sign: patient is lying down, passively flex the neck involuntary knee and hip
flexion
Kernig sign: patient lies down, passively flex the knees and hips to 90 degrees, then straighten
Knees pain

38

 Diagnose with LP - contraindicated if skin infection at the LP site, increased intracranial pressure
without an open fontanelle (suspect if vomiting!), severe thrombocytopenia or other bleeding disorder, or if the
patient is not clinically stable. Okay to do if fontanelle is bulging! If CIed, do a CT scan
Give empiric IV antibiotics first (ceftriaxone and vanco) and then do LP - bugs
other than neisseria meningitis can usually be identified up to several hours after abx.
Do CT scan first if coma, focal neuro findings, a history of neurosurgery, or signs of
increased intracranial pressure with closed fontanelle,
Can do bacterial antigen screens even after abx - will persist for several days even
when culture is negative.
Most common long term problem is hearing loss - in up to 30% of patients with pneumococcus. Also
of meningitis patients will have seizure.
Neonates: most often E coli and GBS, usually hematogenous spread. Nonspecific symptoms - thermal instability (often
hypothermia), poor feeding, vomiting, seizures, irritable, apnea. May have bulging fontanelle, increased or decreased
tone.
Ampicillin + 3rd generation cephalosporin or aminoglycoside: will cover GBS, listeria, and e coli.
3rd gen cephalosporin is because many GBS are penicillin resistant. Sometimes even have to go to
vancomycin to cover GBS!
Older kids:
Bacterial meningits is most often strep pneumo or neisseria meningitis (15-30% of people are
colonized! watch for purpuric or petechial rash!). Vaccination has basically eliminated H flu type B.
Viral meningitis: 90% are caused by nonpolioenteroviruses like echovirus and coxsackie virus
Intracranial abscess: suspect if history of sinusitis + prolonged headache with worsening vomiting and
nuchal rigidity CT scan prior to LP (might result in herniation).
Retropharyngeal abscess: normal mental status, difficulty swallowing, fullness in the oropharynx get
lateral neck xrays!
Most often polymicrobial: strep pyogenes, staph aureus, and anaerobes
Juvenile angiofibroma: nasal obstruction, visible mass, frequent nosebleeds. Found in the nose or upper throat
(nasopharynx), most often in adolescent boys. Benign mass but capable of eroding and locally invading, and
potentially dangerous because they bleed easily.
Case 35: Bacterial Enteritis
Fever, abdominal pain, diarrhea (watery bloody), and neuro findings (seizure, confusion, headache,
drowsiness): most likely salmonella or shigella. Especially shigella - shigellosis
Other shigella and salmonella similarities:
Gram negative rods, non-lactose fermenting facultative anaerobes, motile, infection
more common in warm months.
Test with stool culture (but often negative), usually have positive fecal leukocytes (just
shows inflammation). Blood cultures often positive. Salmonella - WBC usually mildly high, shigella normal WBC but with a remarkable left shift.
Treat both with fluid and electrolytes. Shigella gets abx (3rd gen cephalosporin). Avoid
antimotility agents!
Differential: intussusception

Salmonella

39

 Exposures: poultry, raw eggs (potato salad). Also reptiles. Person to person transmission is rare have to spread lots of bugs
Can also have vomiting
Salmonella gastroenteritis generally isnt treated with antibiotics! Can increase the risk of
HUS!
Nontyphoid: gastroenteritis, meningitis, osteomyelitis, bacteremia
Typhoid/enteric fever: caused mainly by salmonella typhi
Shigella
Transmission is usually person to person, but can be through food and water. Only need a few bugs
for disease
Generally treated to shorten the illness and decrease bug excretion.
Rare complications: rectal prolapse, cholestatic hepatitis, arthritis, conjunctivitis, cystitis.
Rarely, dangerous and fast sepsis like presentation (Ekiri syndrome) death
Other bugs:
1. E coli, campylobacter, yersinia enterocolitica: can caues dysentery with fever, cramps, and bloody
diarrhea. Yersinia can cause an acute abdomen picture. EHEC usually doesnt cause fever
2. Vibrio cholera: vomiting and profuse watery diarrhea
3. C diff: 50% of infants are colonized with it, but treat only if its causing symptoms - rare except after
abx. Dont have receptors for the toxin until 2 years old!
4. Giardia: diarrhea, weakness, flatulence, abdominal cramps, foul smelling greasy stools. Treat with
tinidazole or metronidazole
5. Cyclospora cayetanesis: Prolonged nonbloody diarrhea (e.g. 11 days) after incubation period of 7
days. Fatigue, distended abdoment, cramps, fever, weight loss. Transmitted from contaminated food (e.g.,
raspberries). Treat with bactrim.
Hemolytic Uremic Syndrome:
Follows 8% of EHEC infections, less common with shigella, salmonella, and yersinia. Usually 1-2
weeks after diarrhea in kids < 4 years old.
Anemia, thrombocytopenia, nephropathy, petechiae, pitting edema, HTN.
Treatment is supportive, sometimes dialysis. The thrombocytopenia is consumptive - giving platelets
isnt helpful unless actively bleeding
Other causes of bloody diarrhea
Meckels
Intussusception
Milk or soy protein induced proctocolitis: Not IgE mediated. Usually resolves by 1 year. Causes
severe reflux or vomiting and/or painless bloody stools. Avoid dairy AND soy because of cross reactivity might need a hydrolyzed formula.
This is different from lactose intolerance, which is from lack of the brush border
enzyme
Case 36: Appendicitis
Psoas sign: irritation of the psoas muscle caused by active right thigh flexion or passive right hip extension
Obturator sign: Irritation of the obturator muscle caused by passive internal rotation of the right thigh
Remember that the pain often starts in the umbilical region and then moves to RLQ.
Diagnosis: Ultrasound is especially useful in females. But CT is the gold standard when patients are neurologically
impaired, immune suppressed, obese, or if suspect perforation
Differential:
Lower lobe pneumonias can cause abdominal pain! Watch out for pneumo symptoms.
Strep pharyngitis: throat pain, fever, abdominal pain, emesis

40

Treatment: Remove the appendix if it hasnt perforated. If it has perforated, then give IV abx, drain the abscess
percutaneously, and then do an appendectomy at a later time.
If dont get better after surgery - get a CT scan! Risk of abscess.
Case 37: Acute EBV infection
EBV infection: DsDNA herpes virus that infects oropharynx, salivary tissues, and B cells.
30-50 day incubation. Shed for 6 months after infection and intermittently for life.
Symptoms: malaise, headache, nausea, fever, exudative sore throat, splenomegaly, diffuse cervical
lymphadenopathy. Can have periorbital edema. Less often rash and hepatomegaly.
Complications
Bell palsy, seizures, aseptic meningitis or encephalitis, splenomegaly with lifethreatening rupture, Guillain Barre (do spirometry to measure lung function - especially FVC), optic
neuritis, transverse myelitis, parotitis, orchitis, pancreatitis, airway compromise from enlarged tonsils
In HIV oral hairy leukoplakia in adults and lymphoid interstitial
pneumonitis in kids, several cancers - hodgkin disease, nasopharyngeal carcinoma,
lymphoproliferative disorders
Diagnosis:
Lymphocytic leukocytosis with 20-40% atypicals. Mild thrombocytopenia, rarely
causes bleeding or purpura. Half get mildly elevated LFTs, but jaundice is rare.
Monospot test if > 5 yrs, otherwise do assays for EBV antibodies to viral capsid
antigen, nuclear EBV antigen, and early antigen. Can also do PCR.
Treatment: Just rest! Acyclovir slows viral replication but isnt useful - doesnt affect outcomes. Only
give steroids if concerned about airway
Ampicillin or amoxicillin will cause rash - poorly understood but basically diagnostic of
EBV! Not considered a true drug allergy, can have these abx in the future
Differential dx:
1. Group A strep pharyngitis: typically no prodrome like EBV, no splenomegaly
2. Acute CMV infection: splenomegaly, fever, atypical lymphocytosis, but less likely to have exudative
sore throat and cervical lymphadenopathy
Case 38: Pinworms
Enterobius vermicularis = pinworms: Presents with anal itching, especially at night. Can migrate to the perineum
and cause vaginal itching and discharge.
Females lay eggs around the anus itching eggs on fingers. If ingest eggs cycle
starts again.
Diagnose with cellophane tape test (early in the AM) and microscopic exam - see eggs : (
Treatment: Mebendazole, pyrantel pamoate, or albendazole for the whole family
Differential diagnosis
1. Strep cellulitis: Might have blood streaked stools, will have sharply demarcated erythema
Other nematode infections treated with mebendazole, pyrantel pamoate, or albendazole:
1. Ascaris lumbricoides: Causes hemoptysis, pulmonary infiltrates, abdominal pain, distention,
sometimes intestinal obstruction.
a. Transmitted via egg ingestion, usually soil contaminated with human poo.
b. Diagnose with stool.
2. Hookworms: Ancylostoma duodenale, necator americanus
a. Larvae in soil penetrate skin itching and rash at site of skin entry, epigastric
pain and diarrhea, anemia from blood loss, respiratory symptoms
b. Diagnose with stool exam.
3. Visceral and ocular larva migrans: toxocara canis, toxocara cati, toxocara leonini, baylisascaris
procyonis

41

a. Toxocara canis is a common parasite of dogs

i.
kids eat dirt and ingest the ova, the larvae penetrate the intestine and
migrate to visceral sites like the brain, lungs, and liver, but dont return to the intestine
stool does not contain ova or parasites.
ii.
Diagnose with ELISA for toxocara. If minimal symptoms, no
treatment, if more significant symptoms, albendazole.
b. Fever, cough, abdominal pain (in some), hepatomegaly, rhonchi, skin lesions
c. Dx with clinical presentation and serology, will have leukocytosis and eosinophilia
d. Treatment: visceral is self-limited, ocular is treated with mebendazole, albendazole, or
diethylcarbamazine
4. Whip worms: Trichuris trichiura
a. Often asymptomatic - but can cause proctitis, bloody diarrhea, abdominal pain, and
rectal prolapse
b. Dx with lemon shaped eggs in stool.
c. Treat w/ mebendazole or albendazole
Other nematodes
1. Strongyloides stercoralis: larvae penetrate skin lungs and intestines. Can also move
within the body.
a. Can be asymptomatic or cause epigastric pain, emesis, diarrhea, malabsorption,
weight loss
i.
Can cause hyperinfection in immune compromised hosts! Can get
massive invasion of organs and sepsis from gram negative intestinal bugs
b. Diagnose with stool exam
c. Treat with ivermectin or thiabendazole
Tapeworms

Treat with praziquantel, niclosamide, paromomycin

Case 39: Subdural Hematoma

Concussion: Altered mental status after blunt head trauma, can cause retrograde and anterograde memory loss. 3
grades of concussion:
Grade 1: No LOC, return to baseline in < 15 mins - can go right back to the game. If it happens again,
sit out for 1 week.
Grade 2: No LOC. If return to baseline in 15 min to 1 hour sit out the rest of the week. If
> 1 hour, go to hospital.
Grade 3: LOC go to hospital
Contraindications to contact sports: 1 eye, 1 kidney, hemophilia, unexplained syncope
Subdural hematoma: More common in babies < 1 yr. Seizures are common - 60-90% of kids.
Can be acute, subacute, or chronic. Chronic is more common in older kids than babies. Present with
symptoms of increased ICP, poor weight gain, anemia, etc.
Long term complications: headaches, fatigue, nausea, and sleep disturbance. More long term
complications than epidural hematoma because more brain parenchyma is involved.
Epidural hemorrhage: More common in older kids.
In adults, usually the middle meningeal artery. But in kids, 50% are venous - disrupt dural sinus or
middle meningeal veins
Typical adult course is LOC, period of lucidity, then redevelopment of altered mental status and
symptoms of increased ICP. Young kids typically dont have this pattern!
Acute mortality is higher than acute subdural mortality, but generally few long term complications.
If deteriorating neuro status or increased ICP emergent craniotomy. Steriods have no
role in acute trauma!

42

MRI CAN HELP TO DETERMINE THE AGE OF THE HEMATOMA - USEFUL IF SUSPECT CHILD ABUSE
Intraventricular Hemorrhage: Risk in preemies (< 30 weeks) and underweight babies (< 1500 g, 3.3 lbs) due to
capillary fragility of the subependymal germinal matrix and immature autoregulation of cerebral blood flow. Often fatal
or leads to CP.
Screen for IVH with serial head ultrasounds - must screen because up to 50% are asymptomatic.
Severe hemorrhage presents with lethargy, hypotonia, high pitched cry, rapidly increasing head
circumference and bulging fontanelles
Can involve communicating hydrocephalus - blood irritates the arachnoid villi and impairs absorption
of CSF
Reduce risk by preventing preterm labor and giving matenal corticosteroids

Case 40: Dysfunctional Uterine Bleeding

Dysfunctional uterine bleeding includes menorrhagia or metrorrhagia.
Must consider other diagnoses first - 9% will have an organic cause like ectopic pregnancy, threatened
abortion, infections (cervicitis, HPV, trichomonas), trauma, OCPs, meds, hypothyroidism, foreign body,
malignancy
Treatment depends on hemoglobin level:
12+: Mild bleeding - just give iron and follow up
9-12: Moderate bleeding - iron and OCP
< 9: Severe bleeding - may need a transfusion. Give IV estrogen (premarin) and high dose OCP
until bleeding stops. If it doesnt, do an ultrasound and D&C
Ectopic pregnancy:
Risk factors include PID, IUD, previous ectopic, previous tubal surgery, increasing age, fertility drugs,
smoking.
Can treat unruptured ectopic with methotrexate or manage expectantly?
PID
Caused by gonorrhea or chlamydia. Suspect if abdominal pain in female, other causes ruled out, and
cervical motion tenderness, uterine tenderness, or adnexal tenderness. Can cause tuboovarian abscess and
pelvic adhesions
Ultrasound might show thickened and fluid filled fallopian tubes with free pelvic fluid
Treat with ceftriaxone (gonorrhea) + doxycycline (chlamydia)
Case 41: Simple Febrile Seizure
Typically 6 months to 6 years, in 2-4% of kids. Usually grow out of them. Kids who have their first one < 1 year have a
50-60% chance of having more. Older kids have a 20-30% chance of recurrence.
Risk increases with family history of febrile seizure (10-20%).
Get an LP if: Do CT before MRI if space occupying lesion is suspected (e.g., abscess) - dont give abx before
unless patient cant tolerate the LP without them
1. Neuro exam is abnormal after seizure
2. Seizure occurred several days into illness (maybe after fever had already come on)
3. Kid cant provide adequate feedback about neck exam
4. Kid is younger than 1 yr meningeal signs (Kernig and Brudzinski) arent reliable

43

Simple febrile seizure: Generalized without focal signs. Lasts less than 15 minutes, or if you have two - the whole
episode lasts less than 30 minutes. No further studies are needed - no EEG, no imaging, no LP.
Complex febrile seizure: Lasts > 15 minutes, or if multiple - lasts > 30 minutes, focal signs.
Do EEG, consider imaging (especially if signs of increased ICP)
In babies < 1 year, get an LP
Prolonged seizures: If seizure lasts longer than 5 minutes, treat with lorazepam or diazepam. If dont respond, treat
with fosphenytoin.
Absence seizure = Petiti Mal: brief episodes of impaired conciousness (lasts a few seconds, rarely more than 30
seconds). May have simple automatisms, but no complex autonomisms, no tonic-clonic movements, and no post ictal
state. Hyperventilation during EEG shows 3 Hz spike and wave pattern on normal background
If last a few minutes or have post ictal period, suspect something else, like complex partial seizures.
Can present with brief (few mins) episodes of impaired consciousness, failure to respond to stimuli during the
episodes, staring spells, and automatisms (lip smacking, swallowing, picking movements of the hand) and post
ictal confusion. EEG is normal or shows brief discharge. Hyperventilation wont stimulate.
Case 42: Musculodystrophy
Duchennes MD: 1 in 3300 males, X- linked recessive frameshift or deletion mutation that deletes the
dystrophin protein muscle breakdown. 30% are new mutations.
1. Classic signs are waddling gait and progressive proximal muscle weakness. Also psuedohypertrophy
of calf muscles - fat invasion and increase in muscle fiber size to compensate for proximal weakness.
Wheelchair bound by 10-13 years, but distal strength is okay, so still have fine motor. All will have some
degree of cardiomyopathy! Most die from respiratory failure.
2. Diagnosis: Screen with creatine kinase. Confirm with DNA analysis - diagnoses of cases. If nonconclusive, then do muscle biopsy. Electromyogram will just show non-specific myopathy.
a. 80% of female carriers have elevated CK
3. Treatment: Supportive, but can try prednisone. Do PT to avoid contractures, but not to strengthen significant exercise can make it worse! Monitor for cardiomyopathy, can give digoxin.
Becker dystrophy. X-linked point mutation in the dystrophin gene. Less severe - onset in adolescence or early
adulthood
Myotonic dystrophy: Autosomal dominant trinucleotide expansion in the dystrophin myotonin protein kinase gene.
2nd most common MD in the US!
Myotonia, muscle wasting (especially distal), frontal balding, cataracts, testicular atrophy, arrhythmias
In newborns, might see inverted v-shape upper lip, thin cheeks, wasting of temporalis muscles, narrow
head, high arched palate.
Congenital muscular dystrophy: severe form of myotonic dystrophy can be seen in infants of
mothers with myotonic dystrophy - if require ventilation for > 30 days, poor outcome.
Case 43: Neonatal Herpes
Intrauterine infection chorioretinitis and microcephaly
Delivery infection is more common - especially with primary infection (50% infection with vaginal delivery, vs. < 5% if
recurrent outbreak).
Only 25% of mothers of babies with delivery-transmitted herpes had symptoms at the time of delivery.
Prevention: Do a C-section if mother is symptomatic at the time of delivery. Dont do surveillance
cultures to see if she has an active infection.
Presents in one of three ways:

44

 Skin, eye, mouth involvement (SEM): presents at 1-2 weeks, requires IV treatment
to prevent progression to other types. Best outcomes.
IF A NEONATE HAS A VESICULAR RASH, HOSPITALIZE, GET
HSV CULTURES, AND BEGIN ACYCLOVIR - DONT RELY ON TZANCK SMEAR
CNS disease/encephalitis: 2-3 weeks of life. Fever is unusual and only 60% have
vesicles. Just lethargic, irritable, maybe seizures. 50% of untreated will die, many have long term
neuro issues.
Disseminated disease: Multiple signs and symptoms in 1-2 week old infant: fever,
lethargy, irritable, anorexia, vomiting, respiratory distress, apnea, jaundice, bulging fontanelle, seizure
(focal or general), decerebrate posturing, coma. have vesicles. 30% die even with acyclovir, but
80% of survivors are normal by 1 year - actually better long term outcomes than CNS disease.
Diagnosis: Viral cultures from various body sites and PCR of CSF - antibody studies arent helpful
early on. Can do tzanck smear of lesions (look for multinucleate giant cells) and antigen detection of lesions
for rapid diagnosis.
Treatment: IV acyclovir
HSV genital infection in older kids: Ask the parent to leave the room, then ask the kid in an open ended fashion if
anyone has ever inappropriately touched her
Case 44: Atopic Dermatitis
Eczema: General term for inflamed skin with papules and plaques, often with serous discharge and itching. Includes 3
kinds:
1. Contact dermatitis
2. Atopic dermatitis: A patch or plaque of erythematous skin with intense itching - most common
eczematous eruption in childhood. 20% of kids, especially if family history of asthma, hay fever, or eczema
a. Caused by abnormalities in epidermal barrier ( dry skin, enables allergens
and bacteria to enter), immune function, environment exposures, and infection.
i.
NOT USUALLY CAUSED BY ALLERGENS! OFTEN
MISDIAGNOSED AS ALLERGIC TO EVERYTHING
b. Affected areas are prone to infection - watch out for staph and HSV (vesicles)
c. Three phases:
i.
Birth to 2 yrs: Classic picture is baby with red scaly cheeks in winter
- half resolve by 1.5 yrs
ii.
Childhood < 12 yrs: rash in flexural areas = places of repeated
flexion and extension
iii.
Adult: Flexural inflammation, often with hand dermatitis, inflammation
around the eys, and lichenification of the anogenital area.
d. Diagnosis: Basically exclude other explanations. IgE is often elevated.
e. Treatment: emollients to preserve/restore the skin barrier, eliminate inflammation
(topical steroids) and infection (mupirocin/bactroban for staph), reduce itching (oral antihistamine) to
decrease scratching
i.
Tacrolimus and pimecrolimus are nonsteroidal calcineurin inhibitors
available in topical form - do immune modulation
ii.
Sedating antihistamines = benadryl and hydroxyzine, nonsedating =
loratadine (Claritin) and cetirizine (zyrtec)
iii.
AVOID FLUORINATED CORTICOSTEROIDS ON FACE, GENITALS,
ETC BECAUSE THEY CAN THIN SKIN FURTHER AND CAUSE DEPIGMENTATION
3. Seborrheic dermatitis: self-limited scaly, erythematous, and/or crusty eruptions in areas with lots of
sebaceous glands
a. Treatment: shampoo with antifungal medication or low-to-medium potency
corticosteroid

45

 Watch out for Wiskott-Aldrich Syndrome! X-linked with recurrent infections (capsular bugs),
thrombocytopenia (15-30k), and eczema. Have T cell dysfunction and small, dysfunctional platelets. Prone to
infection, lymphoma, and other malignancies.
Causes of unilateral swollen cervical lymph node in kids:
1. Staph aureus or strep pyogenes: acute onset, associated with cellulitis or suppuration, treat with
drainage and clindamycin.
a. Note: bactrim is good against MRSA but not good against group A strep
2. Anaerobes: older kids with dental problems, treat with clindamycin or ampicillin
3. Non-TB mycobacteria: preschool kids with no systemic symptoms, slow onset, not painful. Excise
and macrolide +/- rifampin
4. TB: systemic symptoms, exposure history, positive PPD. Treat for TB
5. Bartonella henselae: slower onset, tender but mild cellulitis, exposure to cats. Dont need to treat!
6. Tularemia: acute unilateral cervical lymphadenopathy with fever, chills, headache, and malaise.
Contact with infected animals (rabbits, hamsters, blood sucking arthropods)
Impetigo
Bullous: caused by staph aureus, will have rapidly enlarging bullae with yellow fluid and clear scale
around the rim of ruptured lesions. Treat with oral antibiotics (cephalexin, dicloxacillin, clindamycin)
Nonbullous: staph aureus or group A strep. Painful, not itchy, honey crusted. Risk increases with skin
trauma (e.g., insect bites). Diagnosis is clinical. Treat with topical abx (mupirocin)
Case 45: Neuroblastoma
Neuroblastoma is a tumor of primitive neuroendocrine tissue. Its the most common solid, extracranial tumor in kids 50% of infant cancers!
Usually arise in abdomen from the adrenal gland nontender multiquadrant abdominal
mass (crosses midline). But can be intrathoracic or paraspinal.
Intrathoracic respiratory distress, wheeze
Cervical ganglia Horner syndrome
Paraspinal compressive neuralgias, back pain, urine or stool retention
Metastasis to skin (bluish), bones (anemia, pain, petechiae), liver, and lungs. Raccoon
eyes and proptosis orbital involvement
Can have paraneoplastic syndrome or opsoclonus myoclonus
Diagnosis: elevated catecholamine metabolites in urine (homovanillic acid, vanillylmandelic acid) in
90%
Treatment: surgery with chemo and radiation for advanced disease. Overall cure 90% - better
prognosis in infants and if no N-myc mutation
Pinealoma or Germinoma: Suspect in kids with Parinauds syndrome and Colliers sign
Parinauds: paralysis of vertical gaze, pupil disturbance from involvement of the superior colliculus and
CN3
Colliers sign: eyelid retraction
Can distinguish from a craniopharyngioma because no impairment of visual fields
Medulloblastoma: 90% arise from the cerebellar vermis, cause posterior vermis syndrome - unbalanced gait, trunk
dystaxia, horizontal nystagmus, and papilledema
Wilms Tumor: Presents with hematuria, HTN, and local abdominal mass that does not cross the midline
Patients typically present less sick than neuroblastoma
Denys Drash: Wilms tumor, gonadal dysgenesis, nephropathy
Beckwith weidemann
Palpable abdominal mass in newborn is most often hydronephrotic or multicystic dysplastic kidney. Get an
ultrasound to diagnose!

46

Viral mediated mesenteric lymph node enlargement can cause nonspecific abdominal pain! Classic picture is
URI symptoms, neck lymphadenopathy, and diarrhea.
Infantile fibrosarcoma: malignant congenital malformation that is easily mistaken for an infantile hemangioma suspect this if the hemangioma doesnt resolve
Neurofibromatosis Type 1 = von Recklinghausen disease
Autosomal dominant mutation in NF1 tumor suppressor gene on chromosome 17 that codes the
protein neurofibromin.
Cafe au lait spots are the earliest sign - also macrocephaly, feeding problems, short stature, and
learning disabilities. Then axillary freckles, multiple neurofibromas (benign peripheral nerve sheath tumors),
lisch nodules (iris hamartomas)
Risk of intracranial cancer, most often optic gliomas
Neurofibromatosis Type 2 = central neurofibromatosis
Mutation in NF2 tumor suppressor gene on chromosome 22 that codes for protein merlin.
Bilateral acoustic neuromas/vestibular schwannomas cause sensorineural hearing loss and are
diagnostic. Audiometry is the best initial screening test!
Tuberous sclerosis
Neurocutaneous syndrome associated with intracranial tumors (cortical tubers, hamartomas,
subependymal giant cell astrocytomas, subependymal nodules).
Have ash leaf spots (hypopigmented), facial angiofibromas, cardiac rhabdomyomas, renal
angioleiomyomas, MR, and seizures
Case 46: Retropharyngeal Abscess
Neck abscess in general
Often GAS, staph, H flu, peptostreptococcus, bacteroides, and fusobacterium.
Viral infection can present similarly - includes EBV, CMV, adenovirus, rhinovirus.
Oropharyngeal exudate, neck mass from lymphadenitis
Diagnosis:
CT can show whether the patient has only cellulitis and edema, or
hypodensity and ring enhancement abscess. Can also show extension into nearby
structures. MRI is better when concerned about neurovascular elements.
Less likely if tonsils are symmetric, no soft palate changes, and no nuchal rigidity
Treat with IV penicillin, later generation cephalosporins, or carbapenems. Clindamycin or
metronidazole is added if anaerobes are suspected and you want broad coverage.
Retropharyngeal abscess: typically kids < 4 yrs. Sore throat, painful swallowing, fever, posterior pharyngeal wall
swelling.
Can follow infections of ears, sinuses, and nasopharynx. Can spread to mediastinum!
More likely if the patient passively refuses to move the neck secondary to pain
Diagnosis: Lateral cervical neck x-ray widening of the retropharyngeal space
Peritonsillar abscess: can happen at any age, most common in adolescent and YAs.
Epiglottitis - often H flu
X ray shows thumb sign
Thyroglossal duct cyst: typically midline, move with tongue protrusion, often follow URI. Excise surgically after neck
CT to ascertain cyst and thyroid anatomy. Half become infected.

47

Other considerations
Thyroiditis, sialadenitis, thyroid nodule, goiter, salivary gland tumor
Tooth abscess: See swelling in the gum, painful to chew. Give broad spectrum abx (amoxicillin,
clinda) to cover for strep mutans or fusobacterium, see a dentist in 24 hours
Strep throat: Fever, sore throat, enlarged tonsils with exudate, anterior cervical lymph nodes
enlarged, but will move neck. Younger kids may have abdominal pain and vomiting.
If viral symptoms (cough, rinorrhea, conjunctivitis, oral ulcers) viral pharyngitis
If exudate, edema, palatal petechiae, no viral symptoms do rapid strep test. If
positive, treat for strep. If negative, follow up with throat culture. If culture is negative,
then its viral. If positive, treat for strep.
Adults who meet all four Centor criteria can be treated without testing (fever, no
cough, exudate, anterior cervical lymphadenopathy) because lower likelihood of viral pharyngitis. If
meet only 2 or 3, should test.
Treatment: Penicillin or amoxicllin - reduces risk of rheumatic fever and transmission
to others. Macrolides if allergic.
Bacterial rhinosinusitis:
Persistent symptoms > 10 days without improvement OR severe symptoms, fever, face pain, purulent
discharge > 3 days OR worsening symptoms > 5 days after initially improving viral URI
Acute infection is most often caused by strep pneumo, nontypable H flu, and moraxella - treat with
ampicillin
Chronic infection is more likely staph aureus
Case 47: Esophageal Atresia
Esophageal atresia: 1 in 2500-3000 births. Most common is proximal esophageal pouch and distal esophagus
growing from trachea.
Symptoms: Cough, choking, cyanosis, inability to pass orogastric tube. Often history of
polyhydramnios. Kids with H type pouch (just a connection between trachea and esophagus) can present later
with recurrent pneumonia or feeding trouble.
30-50% have VATER association defects: vertebral anomaly, anal imporferation,
tracheo-esophageal fistula, radial and renal anomaly
May also have heart defects! Watch out for heart failure later in childhood.
Diagnosis: chest and abdominal xray with orogastric tube in place see it coiled in the
blind pouch
Treatment: pouch must be suctioned constantly pending surgical repair. May have persistent
esophageal dysmotility and chronic GERD.
Watch out for DiGeorge Syndrome: abnormal 3rd and 4th pharyngeal pouch formation
Can include abnormalities of the great vessels, esophageal atresia, bifid uvula, congenital heart
disease, short philtrum, hypertelorism (increased distance between the eyes), antimongoloid slant palpebrae
(outer corner down), mandibular hypoplasia, and low set notched ears.
May present in infancy with hypocalcemic seizures due to parathyroid hypoplasia. Compensatory
parathyroid hyperplasia means that hypocalcemia is rare later in life.
Case 48: Transient Tachypnea of the Newborn
Transient tachypnea of the newborn: Usually in term infants after c-section or normal vaginal birth. Slow
absorption of fetal lung fluid respiratory distress soon after birth w/ tachypnea, mild retractions, nasal
flaring. Can have grunting and cyanosis.
Diagnosis: CXR shows perihilar streaking and fluid in the fissures, but lungs are well aerated
Treatment: Observe and offer O2 as needed. Usually resolves in 1-4 days. If more than mild distress,
evaluate for more serious issues.

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Respiratory Distress Syndrome: Usually preemies. Have a deficiency of surfactant respiratory distress.
CXR shows a reticulonodular ground glass pattern with air bronchograms and decreased aeration of
the lungs
Treatment: Give supplemental O2 via continuous positive airway pressure, fluids, NG feeds (degree of
tachypnea usually means baby cant eat). Can give exogenous surfactant.
Congenital diaphragmatic hernia: 1 in 5000 births. Right sided heart sounds and absent left sided breath sounds. Do
an abdominal exam to confirm.
Meconium aspiration syndrome: CXR shows hyperinflation with patchy infiltrates. Meconium can plug
small airways air trapping. Can lead to pneumothorax.
Treatment: No treatment if HR > 100, strong respirations, and good tone. But if infant is depressed, do
endotracheal intubation with direct suction. Bag-and-mask ventilation or ET intubation without suction can
make it worse.
Pneumothorax: babies with meconium aspiration and respiratory distress are at risk, especially if high PEEP settings
are used
Congenital cystic adenomatoid malformation (CCAM) aka Congenital Pulmonary Airway Malformation: an
entire lobe of lung is replaced by nonfunctional cystic lung. Large lesions can compress the affected lung and shift the
midline away from the lesion.
Treat with surgical excision of the affected lobe. Some risk of lung cancer.
Case 49: Malrotation
Work up of bilious emesis in general: first do abdominal xray to evaluate the need for surgery or other diagnostic
studies. Then follow with a contrast enema to see exactly what is going on.
Contrast enema is diagnostic and potentially therapeutic for meconium ileus.
Malrotation with volvulus: Can present anytime, but most often in infancy with bilious vomiting, lethargy, abdominal
distention, blood in diaper
Patients with malrotation and intermittent or partial volvulus can present with recurrent
abdominal pain or lymphatic congestion FTT because of malabsorption or chylous ascites. Can
also have asymptomatic malrotation as an incidental finding (see colon has weird position, see
ligament of Treitz on the right)
Diagnosis: If suspect volvulus, do an upper GI contrast series - see corkscrew or birds beak in
duodenum
Intussusception: Healthy kid with severe intermittent abdominal pain and vomiting. Diagnose and treat with air
contrast enema.
Necrotizing enterocolitis: Preemie with abdominal distention, bloody stools, and thrombocytopenia. Pneumotosis on
abdominal xray is diagnostic. Also look for perforation! Will determine treatment.
If no perforation bowel rest with NG decompression, systemic abx, continue to monitor
electrolytes and vital signs. Do serial abdominal films to monitor for perforation.
If perforation exploratory laparatomy, remove necrotic intestinal tissue. Risk of short bowel
syndrome - not enough intestine left for adequate absorption.
Pyloric stenosis: Usually presents in weeks 3-8, more common in boys (4x). Will get hypochloremic metabolic
alkalosis from emesis. Ultrasound confirms the diagnosis. Treat with pylorotomy, but must normalize electrolytes
before surgery because alkalosis increases the risk of postop apnea.

49

Duodenal atresia: Presents very early with double bubble sign on xray. have chromosomal abnormalities (e.g.,
downs).
Jejunal atresia, Ileal atresia: From vascular accident, not chromosomal abnormality. Risk is increased if mom takes
vasoconstrictive medications or drugs (cocaine, tobacco). Jejunal atresia has triple bubble sign on xray (uworld
4890).
Case 50: Acne Vulgaris
Pubertal hormones increase sebum production. Propionibacterium acnes proliferation distends the
follicular walls obstructs sebum flow
Acne is inflammatory or noninflammatory:
1. Noninflammatory acne: open comedones (blackheads) and closed comedones
2. Inflammatory acne: Papules (bumps under the skin) and pustules
Isotretinoin (accutane) can cause depression!
Tinea barbae: painful, itchy zits in the bearded areas of the face and lymphadenopathy - can be aquired through
animal exposure, more common in farmers. Treatment is oral antifungal!
Neonatal acne - affects 20%! Maybe from placental transfer of maternal androgens, hyperactive adrenal glands, and
hypersensitive infant response to androgens. May be predisposed to get acne later. Generally dont treat.
Case 51: Posterior Urethral Valves
Urinary tract obstruction in general:
Diagnose with fetal ultrasound
Severe cases can cause oligohydramnios poor lung development, contractures
Posterior urethral valves: Urethral valves are leaflets of tissue located in the the distal urethra from the prostate to
the external sphincter. Posterior urethral valves are the most common cause of severe urinary obstruction in boys - 1 in
every 5k to 8k; up to 30% already have end-stage renal disease or chronic renal insufficiency. OCCURS ONLY IN
BOYS!
Symptoms: abdominal mass with dribbling urine stream in a newborn
Diagnosis: renal ultrasound can show obstruction, voiding cystourethrogram (VCUG) is diagnostic do these in an infant boy with a UTI
Treatment: Bladder catheterization, then endoscopic transurethral valve ablation if serum creatinine is
normal and urethral size permits. Otherwise, might have to do emergent vesicostomy.
Vesicoureteral reflux: backflow from bladder into ureters. If severe, can go into the kidney. More common in females,
can cause recurrent UTIs and diminished renal function.
Grading: I-V. High grade is unlikely to resolve on own.
Treatment: Depends on severity - maybe surgery, maybe just abx prophylaxis (bactrim, nitrofurantoin,
trimethoprim solo). Do urinalysis and urine culture every 3-4 months.
Chronic constipation is a risk factor for recurrent cystitis in toddlers Impacted stool can cause rectal
distenstion compresses bladder, prevents complete voiding, leads to urinary stasis

50

Acute lobar nephronia: Progression from pyelonephritis, not quite an abscess. See a wedge-shaped area with
minimal contrast enhancement. Suspect if the patients fever wont resolve. Diagnose with CT or renal ultrasound.
Treat with prolonged abx.
Prune belly syndrome = Eagle Barrett syndrome: malformation that happens mostly in males. Lax, wrinkled
abdominal wall that looks like a prune. Dilated urinary tract, and intraabdominal testicular tissue. Can have kidney
malformations that cause lung problems. Also congenital hip dislocation, clubfeet, and intestinal malrotation with
possible secondary volvulus. No genetic predisposition!
50% die in utero, 50% die in the first two years
Beckwith Wiedemann syndrome: Wilms tumor, hepatoblastoma, gonadoblastoma, macroglossia (huge tongue),
hemihypertrophy (some parts or one side are enlarged). Born big, risk of hypoglycemia, but resolves in early infancy.
Intellect usually normal.
Monitor for wilms tumor and hepatoblastoma with abdominal ultrasound and AFP levels every three
months until age four, then abdominal ultrasound years 4-8, then renal ultrasound through adolescence
Nocturnal enuresis (bedwetting): more common in boys - 15% of 5 y/o, with 15% resolving each year. FH is
common. Enuresis alarm works in up to 90%. Can treat during special nights with desmopressin, but will symptoms
return once the medication is stopped.
Desmopressin can cause hyponatremia if too much fluid is consumed at night
Kidney reabsorption problems
1.
Nephrogenic diabetes insipidus: Kidney doesnt respond to ADH excessive thirst, lots of
peeing, failure to thrive.
Diagnose by measuring serum sodium and urine specific gravity during a controlled fluid restriction
challenge
Treat with adequate fluid intake and diet and saluretic meds (to promote sodium excretion)
Usually x linked recessive, but can be autosomal dominant or recessive
Can be acquired with lithium, methicillin, rifampin, and amphotericin
2.

Renal Tubular Acidosis: SEE UW 4828

Type 1: Distal, ph > 5.5: alpha intercalated cells normally absorb K+ and secrete H+, but
they dont work here acidosis and hypokalemia. Positive anion gap.
Type 2: Proximal, pH < 5.5: Defect in PCT reabsorption of HCO3- acidosis. Assoced with
hypokalemia
Type 4: Hyperkalemic, ph < 5.5: Hypoaldosteronism, aldosterone resistance, or K+ sparing
diuretics. Hyperkalemia impairs ammmonia genesis in the PCT decreased buffering capacity
and decreased H+ secretion. Positive anion gap.
3.

Hereditary Fanconi Syndrome: PCT fails to reabsorb amino acids, glucose, bicarb, and phosphate.
Anorexia, polydipsia, polyruia, vomiting, and unexplained fevers, along with glucosuria but normal
blood sugar, abnormally high urine pH with mild/moderate hyperchloremic metabolic acidosis, and mild
albuminuria but normal serum protein and albumin.
4.
Bartter syndrome (like loop diuretic): Defective Na/K+/2Cl- cotransporter in the thick
ascending loop of Henle hypokalemia, metabolic alkalosis with hypercalciuria. BP is usually
normal.
5.
Gitelman Syndrome (like thiazide diuretic): Defective NaCl reabsorption in the distal convoluted
tubule. AR. Get hypokalemia due to increased sodium delivery to the collecting tubule, but no hypercalciuria

51

6.
Liddle syndrome: Increased reabsorption of Na+ in the distal and collecting tubules. AD. Get
hypertension, hypokalemia, metabolic alkalosis, and decreased aldosterone (dont need it!). Treat with
amiloride to block aldosterone receptor.
Idiopathic hypercalciuria: recurrent gross hematuria, persistent microscopic hematuria, and complaints of dysuria
(e.g., burning during urination) or abdominal pain without initial stone formation. Over time, stones form in 15%.
Kidney stones: Diagnose with non contrast spiral CT of abdomen and pelvis - can see stones and assess for
hydronephrosis
Stone in distal ureter: dysuria, urgency, frequency
Stone in urethra: dysuria and voiding difficulties. Pain radiates into the scrotum.
Misc:
Epididymitis: Redness, warmth, scrotal swelling but normal cremasteric reflex. Testicle size and
position are normal. Pain is posterior over the epididymis and elevating the testicle might make it feel better.
Testicular torsion: acute scrotal pain, get surgery consult ASAP - have to act within 4-6 hours to save
the testicle
Hydrocele: small ones usually resolve in first year. Larger ones likely require surgical repair.
Vulvovaginitis: 70% caused by chemical irritation. Brown or green discharge, bad smell, burning with
urination as urine contacts raw skin. Advise loose fitting clothes, avoid bubble baths, wipe front to back.
Estrogen cream or antibiotics can also help. Pinworms can infect the vagina but would be itchy.
Case 52: Attention Deficit Hyperactivity Disorder
ADHD: 3-10% of school aged kids, up to 25% if a primary relative is affected
Criteria: inattentiveness, hyperactivity/impulsivity in 2 or more settings. Symptoms must be present for
at least 6 months, started before 7 years, and result in impaired function
Psychological and developmental testing is important and should come before the development of a
management plan - often have psych and learning disorders at the same time: Oppositional defiant disorder
(35%), conduct disorder (25%), anxiety disorder (25%), depression (18%)
Treatment: Behavioral modification (positive and negative reinforcement), methylphenidate,
dextroamphetamine, atomoxetine (strattera)
Prognosis: 50% do well in adulthood, 50% continue to have problems
Oppositional-defiant disorder: pattern of angry/irritable mood and argumentative/defiant behavior towards authority
figures. They are tempermental, hostile, and defiantly break rules
Conduct disorder: violate major social normal or the rights of others - aggression, property destruction, theft,
deceitfulness, rule violations. Greater risk in kids with ADHD
OCD: treat with high dose SSRIs (fluoxetine), even if PANDAS
Anorexia/bulimia and refeeding syndrome
Starvation state causes decreased insulin, increased glucagon, and increased cortisol. Electrolytes are depleted. Then
start refeeding, increased insulin will shift phosphorus, potassium, magnesium, and thiamine into cells
Decreased serum phosphorus: the worst part - cant make ATP!
Deficient potassium and magnesium arrhythmias
Can end up with cardiopulmonary failure! Potentially fatal.
Case 53: Osgood-Schlatter Disease
Osgood-schlatter disease: Painful inflammation (traction apophysitis) of the tibial tubercle, which is an extension fo
the tibial epiphysis/growth plate. Found exclusively in adolescents (usually males) prior to closure of the growth plate.

52

 Rapid growth quadriceps tendon puts a lot of stress on the tibial tubercle. Then
repetitive running and jumping causes traction and microstress fractures inflammation,
edema, tenderness, bony changes. Think basketball players!
NO CONSTITUTIONAL SIGNS OR SYMPTOMS ARE INVOLVED! If have fever, joint erythema,
fatigue, weight loss, night sweats, bruising, or cough, think of something else.
Diagnosis: Clinical!
Treatment: Decreased activity, maybe ice after exercise and NSAIDs. Symptoms can recur until
ossification is complete.
Differential dx:
Patellofemoral stress syndrome: Common in athletes. Chronic, dull, pain that localizes on the
patella and is worse when descending steps or going down hill.
Jumpers knee/patellar tendonitis: microscopic patellar tendon injury chronic anterior
knee pain and tenderness at the lower patella, not on the tibial tuberosity
Prepatellar bursitis: Chronic inflammation of the anterior knee - pain with direct pressure and
superficial swelling
Iliotibial band friction syndrome: lateral knee pain in rummers
Slipped capital femoral epiphysis (SCFE): overweight adolescents during the growth spurt
limp and groin, thigh or (referred) knee pain. Have limited hip flexion, internal rotation, and
abduction.
Risk of avascular necrosis of the femoral epiphysis put on bedrest and
have ortho evaluate
Septic arthritis: Often Neisseria gonorrhea! Joint is tender, edematous, warm, erythematous,
significantly decreased range of motion.
Misc: trauma, tumor, leukemia, septic joint
Sports injuries in general
Skiers: thumb injuries and ACL injuries
Swimmers: shoulder injuries
Basketball and volleyball: osgood-schlatter and ankle or knee sprains
Wrestlers: shoulder injuries, knee injuries (prepatellar bursitis from traumatic impact with the floor),
skin conditions (fungus, contact dermatitis, herpes, impetigo, staph, folliculitis)
Osteomyelitis: fever and focal bone pain, most often hematogenous but can be from continuous spread (e.g., staph
aureus cellulitis).
xrays can take a week to show signs! Diagnostic bone changes may not appear for 12 days. Bone
scans and MRI can be useful in diagnosis within 24-48 hours. But falsely normal bone scans can happen give abx without waiting, usually treat for 3 weeks.
Case 54: Torticollis
Torticollis: obviously twisted neck with the head twisted to one side and the chin tilted to the opposite side. Presents
at birth or soon after.
Often caused by injury to the sternocleidomastoid muscle, often birth trauma. Higher risk with breech
babies, hip dysplasia, and metatarsus adductus.
Diagnosis: Usually have a palpable, firm mass within the affected muscle. Do cervical spine xray to
rule out vertebral malformations.
Treatment: If spine is normal gently stretch the SCM. If persists > a few months call
orthopedic surgeon. Persistent torticollis can cause facial assymmetry!
If torticollis presents later, its usually caused by trauma, inflammation, or neurologic conditions.
Inflammatory torticollis often follows a URI - have muscular pain and tenderness, normal neuro exam.
Can also be caused by cervical lymphadenitis (afebrile, palpable tender lymph nodes), retropharyngeal

53

abscess (fever, dysphagia, dyspnea, drooling, or stridor secondary to compression), cervical vertebral
osteomyelitis, rheumatoid arthritis, and upper lobe pneumonia.
Neuro conditions include Down syndrome, visual disturbances, reactions to meds (phenothiazine,
haloperidol, metoclopramide - reverse with diphenhydramine), spinal cord lesions, Wilson disease, others.
Klippel-Feil syndrome: Can present as torticollis. Have congential fusions of cervical vertebrae
restrictricted neck movements, short neck, low hairline, and sprengel deformity (congenital elevation of the
scapula). Also have structural urinary tract abnormalities.
Sandifer Syndrome: GERD, hiatal hernia, and posturing of the head (intermittent torticollis) - thought to be in
response to pain or to protect the airway.
Case 55: Congenital Cataracts
Aphakia: Absence of the lens
Congenital cataracts: Affect 2 in 10k births; isolated condition in 50-60%, syndromic in 20-25%.
Work up includes ToRCH titers, evaluate for galactosemia (part of newborn screen deficient uridyl transferase, so cant convert galactose 1P to glucose 1P must stop breastfeeding
and switch to soy or casein hydrolysate infant formula), full opthy exam and ocular ultrasound.
ToRCH infections: Nonspecific signs common to most types include hepatosplenomegaly, jaundice,
thrombocytopenia, and growth retardation.
Toxoplasmosis: Chorioretinitis, hydrocephalus, and intracranial calcifications. Can also have
other symptoms similar to the other congenital infections, like anemia, petechial rash, organomegaly, jaundice,
and seizures.
Often asymptomatic until adulthood when chorioretinitis develops
Rubella: Classic triad is cataracts, PDA (or pulmonary artery hypoplasia), and deafness +/- blueberry
muffin rash. Structural heart defects are typical of congenital rubella but not the other TORCH
infections. Urine can contain rubella for up to six months.
CMV: hearing loss, seizures, petechial rash, blueberry muffin. Can also have intracranial
calcifications - like toxo - but will have microcephaly instead of hydrocephaly. MOST COMMON
INFECTIOUS CAUSE OF CONGENITAL SENSINEURAL HEARING LOSS
Syphillis: Often stillbirth w/ hydrops fetalis. Or maybe born with hepatosplenomegaly, anemia, runny
nose, and lesions on the palms and soles, maybe deafness. If survive, will develop facial abnormalities,
notched teeth, saddle nose, short maxilla, and saber shins
Mucopurulent discharge from an eye, but no involvement of cornea or conjunctiva eyedrop abx
Infantile glaucoma: 1 in 100k births with tearing, photophobia, and blepharospasm. Eye may be enlarged.
Other eye infections/conditions:
Trachoma: follicular conjunctivitis and pannus (neovascularization) of the cornea caused
by chlamydia trachomatis. Concurrent infection in the nasopharynx nasal discharge. Repeat
infections can cause corneal scarring; its a major cause of blindness around the world
Treat with topical tetracycline or azithromycin.
Herpes simplex keratitis: pain, photophobia, decreased vision. Dendritic ulcers are common, might
see vesicles in the corneal epithelium
Gonococcal conjunctivitis: copious, purulent discharge 2-3 days after birth. Give erythromycin within
one hour of birth for prophylaxis (doesnt prevent chlamydial conjunctivitis!)
Viral conjunctivitis: red conjunctiva with copious watery discharge. Most often adenovirus, especially
with swimming pools

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 Dacryocystitis: Infection of the nasolacrimal sac, maybe due to failure of epithelial cells to
canalize. Treat with nasolacrimal massage and clean with warm washclothes. Failure to open by 6
months ophthamology for surgery. If infected, get abx to clear.
Chalazion: firm, nontender nodule from chronic granulomatous inflammation of the meibomian gland.
Hyphema: Blood in anterior eye
Oribital/septal cellulitis: distinguish from preseptal cellulitis because this will involve decreased
vision and EOMs, pain with eye movements, maybe proptosis.
Staph aureus and strep pneumo are the most common causes, often follows bacterial
sinus infection.
Complications include orbital abscess, intracranial infection, and cavernous sinus
thrombosis
Treat orbital cellulitis with inpatient IV abx, preseptal with outpatient oral abx
Cavernous sinus thrombosis: periorbital edema, exophthalmos, and chemosis, with papilledema
and dilated tortuous retinal veins. Eye swelling starts unilaterally but involves the other eye within 24-48 hours.
Will have CN symptoms because CN 3, 4, 5, and 6 pass through the cavernous sinus
Other congenital infections:
Hepatitis B: Baby born to Hep B positive mother gets Hepatitis antibodies and hepatitis B vaccine (to
prevent later infection)
Varicella: If mom gets chicken pox 5 days before delivery or 2 days after, baby gets varicella
immunoglobulin. If baby is exposed around birth, give acyclovir. If baby is exposed > 2 days after birth, just
watch.
Varicella exposure with kids: if immune competent, give varicella vaccine. If ICed,
give varicella immunoglobulin
Case 56: Severe Hearing Loss
1. Conductive hearing loss: problem with the outer ear (external auditory canal atresia) or middle ear
(otitis media, cholesteatoma)
2. Retrocochlear (central) hearing loss: Hearing loss caused by deficits in the auditory nerve or CNS
3. Sensorineural hearing loss: Cochlea disorders (infection, noise, ototoxic agents, genetics).
a. 50% genetic.
i.
Most common is autosomal dominant Wardenburg syndrome types
1 and 2: Partial albinism (white forelock), deafness, heterochromic irises
ii.
Brachio-oto-renal syndrome: Hearing impairment, preauricular pits
and external ear abnormalities, renal impairment, brachial fistulas
iii.
Alport syndrome: nephritis + progressive kidney failure, sensineural
hearing loss, ocular abnormalities
iv.
Down syndrome
v.
Neurofibromatosis
vi.
Jervell and Lange Nielsen syndrom (prolonged QT)
vii.
Hunter-Hurler syndrome
b. Increased risk for otogentic meningitis - should be vaccinated against strep pneumo
Postnatal infections associated with acquired SNHL: group B strep sepsis, strep pneumo or H flu meningitis,
measles, mumps, rubella, CMV
Drugs: aminoglycosides, loop diuretics, chemo (cisplatin), isotretinoin, lead, arsenic, quinine
Newborn screen: Mandatory in most states with otoacoustic emissions or auditory brainstem evoked potentials. Goal is
to dx by 3 months, intervene by 6 months.
Especially important for babies born with Apgar scores < 4 at 1 min and < 6 at 5 mins, family history of
SNHL, CMV, rubella, syphilis, herpes, or toxo infection, craniofacial abnormality, low birth weight,
hyperbilirubinemia requiring exchange transfusion, bacterial meningitis, mechanical ventilation for more than 5
days

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Speech development
1. 1 year = 2-4 words + mama and dada
2. 2 year = 50 words + 2-3 word sentences
3. 3 years = 250 words + 3 word sentences
Case 57: Immune Thrombocytopenic Purpura
Evaluation of thrombocytopenia:
1. Is Hgb normal? Is WBC normal? If yes bone marrow infiltration is unlikely
2. Any systemic signs of illness? If yes maybe HUS, DIC. If no ITP
HUS: nephropathy, thrombocytopenia, and microangiopathic hemolytic anemia. Assoced with EHEC, shigella, and
salmonella. Often have a prodrome of bloody diarrhea
Henoch-Schonlein Purpura: Small vessel vasculitis in kids, often follows URI. Associated with IgA nephropathy. Risk
of intussesception.
Palpable purpura + nephritis (decreased urine output, edema, scrotal swelling hematuria) + GI
symptoms (abdominal pain, GI bleeding, intussception, hepatosplenomegaly), and arthritis
Diagnosis: Hemolytic anemia and thrombocytopenia. See helmet cells, burr cells, and fragmented
RBCs. Hematuria, proteinuria, and elevated serum creatinine. Will have normal platelet count. Renal biopsy
would show IgA in mesangium.
Treatment: Hydration and pain control. Get urinalysis to monitor kidney function - might need dialysis.
Immune thrombocytopenic Purpura: Circulating antiplatelet antibodies (most often antiglycoprotein
IIb/IIIa) low platelets.
The most common cause of thrombocytopenia in a kid 2-10 years. Often follows viral illness after 1-4
weeks.
Can be drug induced! Watch out for penicillins, bactrim, digoxin, quinine, quinidine, cimetidine (H2
receptor antagonist), benzodiazapenes, and heparin.
Diagnosis: First examine the peripheral blood smear - platelets themselves are normal size or
large. Might have eosinophilia or atypical lymphocytes, but no immature WBCs or abnormal RBCs. PT and
PTT are normal.
If blood smear looks weird, WBC count is abnormal, or
adenopathy/organomegaly do bone marrow evaluation. Will see increased numbers of
megakaryocytes in ITP
Prognosis 70-80% resolve in a month or a few months. If > 6 months, considered chronic (10-20%) can occur with autoimmune disease, HIV, or EBV. Treat the same as acute ITP.
Treatment; If severe (< 20k) or have complications, give treatment: IVIG, IV anti-D therapy, 2-3
weeks of corticosteroids. Platelet transfusion only if life threatening bleeds! Otherwise just observe.
Splenectomy if serious complications and no response to treatments - then give
pneumococcal vaccine and penicillin prophylaxis.
Hemophilia: Hemophilia A is deficiency of factor 8, hemophilia B is deficiency of factor 9. Inherited x-linked recessive.
Males are severely affected, females may be mildly simptomatic.
Hemophilic arthropathy is a late complication from iron/hemosiderin deposition synovitis
and fibrosis within joints. Presents with chronic worsening joint pain and swelling, can result in
contractures and limited range of motion. Early detection with MRI - later damage is visible on
xray. Cant prevent, but giving factor replacement can reduce risk
Case 58: Child Abuse
Neglect is the most common form of abuse.
Physical abuse vs. corporal punishment is determined when there are marks left.

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Shaken baby: seizures, respiratory arrest, bulging fontanelle, irritability, retinal hemorrhages.
Diagnosis:Note that xrays might not show fractures for 1-2 weeks! Might need bone scan - can show fractures 24-48
hours after injury.
Accidental bruises are usually over bony areas - abdomen, thighs, butt, and inner arm are less often.
Intentional hot water immersion leaves a sharp border, often stocking-glove distribution
Nursemaids elbow: Kid holds the elbow flexed and the forearm pronated - treatment is to supinate the forearm while
applying pressure over the radial head.
Osteogenesis imperfecta: autosomal dominant; long bone fractures and vertebral injury with minimal trauma, short,
deaf, blue sclera

Spondylolisthesis: developmental disorder where a vertebra slips forward over another one (usually L5 over S1),
creating back pain, neurological dysfunction (e.g., incontinence), and a palpable step off. Usually manifests in
preadolescent kids
Case 59: Foreign Body Aspiration
Watch for good health just before developing respiratory symptoms - this is a big red flag! Most likely explanation is
foreign body aspiration or anaphylaxis.
Symptoms of aspiration: Generally respiratory distress, cough, and stridor, maybe also aphonia (hoarse voice). Can
also have object lodge in a bronchus (most often right mainstem) and cause cough, wheeze, and decreased breath
sounds over the affected side. Can end up with atelectasis or pneumonia. 20% not caught until 1 month later.
Stridor: Monophonic (single pitch) sound that is louder over the upper chest - can be supraglottic
(above vocal cords), glottic, or subglottic. Contrast wheezing, which is from the blockage of multiple small
airways and is best heard over the lung bases.
Tachypnea: Average bpm for an infant = 30, 8 y/o= 20, adult = 16
Partial obstruction air trapping on expiration, hyperinflation. Complete obstruction
atelectasis, post-obstructive pneumonia, localized bronchiectasis (late feature)
Diagnosis: Rigid bronchoscopy is diagnostic and therapeutic for the airway! Do even if the xray is normal! CXR
is of limited utility because often the object is radiolucent (plastic)
Xray will show coins (AP CXR - linear in trachea, circular in esophagus with more mild respiratory
symptoms).
Xray wont show plastic, etc. but might see other clues like air trapping when the obstructed lung stays
inflated on PA expiratory film and mediastinum might be shifted to the normal lung side.
Use endoscopy if the object is in the esophagus.
Differential dx:
1. Croup (largyngotracheobronchitis): often presents at night with fever, hoarseness,BARKY COUGH,
recent history of runny nose or congestion, INSPIRATORY STRIDOR AND NO HIGH FEVER - many viruses
can cause it, often parainfluenza. X ray of the neck may show a tapered subglottic airway = steeple sign.
Presents in Kids < 3 years
a. Treatment: Aerosolized racemic epinephrine and corticosteroids. Monitor O2 sat.
Do not upset the kid or do invasive airway exams unless absolutely necessary - can worsen the
edema. Cool mist is often used to relieve laryngospasm, evidence is weak.
b. Related conditions:
i.
Can get bacterial tracheitis (staph aureus, moraxella, H flu) 5-7 days
later - can cause life threatening airway obstruction

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1. Can distinguish from croup based on INSPIRATORY

AND EXPIRATORY STRIDOR AND HIGH FEVER!!!
2. Treat with endotracheal intubation and IV abx
ii.
Spasmodic croup: Appear well during the daytime, but have sudden
onset of nighttime hoarseness, barky cough, inspiratory stridor in a previously healthy afebrile
child. Maybe caused by viruses, allergies, GERD, and psychosocial factors.
2. Epiglottitis - H flu, rare because of Hib vaccine. Can be strep pneumo or staph aureus. Presents with
drooling, muffled voice, inspiratory stridor, NO COUGH, preference to sit in a tripod or upright position, neck is
hyperextended
a. Medical emergency! Go to the OR for tracheal intubation or tracheostomy. Do not
visualize the airway! Can cause obstruction.
3. Noninfectious causes: retropharyngeal abscess, angioedema, tracheomalacia, extrinsic airway
compression (aortic/vascular ring, tumor), intraluminal obstruction (papilloma, hemangioma)
a. Tracheomalacia: Inspiratory stridor appearing in infancy that is worse in supine
position, better in prone (think of frontal floppy airway). If mild, have inspiratory stridor only
intermittently (with crying). Usually improves by 18 months.t
b. Aortic/vascular ring: Presents before 1 year with expiratory stridor that improves
with neck extension, 50% will have other cardiac anomalies (e.g., VSD). Also look for esophageal
difficulties - tough time feeding, coughing, etc. Diagnose with barium contrast esophagram,
bronchoscopy, CT, or MRA.
c. Angioedema: Autosomal dominant defect in C1 esterase end up with too
much kinin excessive vasodilation.
i.
Episodic swelling of hands and feet and GI tract (pain, vomiting,
diarrhea) that occurs after exercise and stress and resolves in a few days.
ii.
Risk of laryngioedema (changes in voice, difficulty swallowing) that
can obstruct airway.
Object in the esophagus: Remove batteries, magnets, and sharp objects ASAP with flexible endoscopy (think of a
flexible esophagus vs. a rigid bronchus which requires rigid bronchoscopy).
Batteries should be removed from the esophagus, but can be observed if more distal as 90% will pass
on their own - just follow up with with stool examination or xrays
For coins, remove with flexible endoscopy if > 24 hours have pssed, time of ingestion is unknown, or
patient is symptomatic.
Case 60: Kawasaki Syndrome
Kawasaki Syndrome: A generalized vasculitic disease of medium-sized arteries assoced with fever and exanthem of
unknown etiology, but thought to be infectious. Most often < 5 yrs, more common in Asians and boys. Risk of coronary
aneurysms! (Do echo to monitor). Most common cause of acquired heart disease in kids.
Symptoms: Must have fever for at least 4 days, plus of the following
BILATERAL NONPURULENT CONJUNCTIVITIS - key to distinguishing from other
illnesses
Oropharyngeal mucosal changes - pharyngeal edema, red cracked lips, strawberry
tongue
Polymorphorous generalized erythematous rash - especially in the perineum
which may have desquamination
Swollen hands or feet and red palms and soles (acute phase), then
desquamination
Acute nontender cervical lymphadenopathy - usually unilateral, > 1.5 cm
May also have:
Abdominal pain, RUQ pain, and vomiting - maybe due to hydrops of
gallbladder - also seen in GAS, leptospirosis, and Henoch Schonlein purpura.
Arthralgias, arthritis, anterior uveitis
Cardiac abnormalities - coronary arteries, valves, pericardial effusion,
or congestive heart failure.

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 RISK OF CORONARY ANEURYSM: Greatest in boys, fever > 10

days, < 1 year old, low serum albumin or Hgb, early cardiac findings (e.g., mitral regurg,
pericardial effusion), thrombocytopenia.
Can get coronary aneurysms with incomplete disease! Incomplete disease more likely in babies
Hydrops of the bladder: Often assoced with KS, GAS, leptospirosis, and Henoch Schonlein purpura.
Diagnosis:
No labs are diagnostic. But elevated ESR and CRP, normocytic anemia, leukocytosis,
and ELEVATED PLATELETS (> 450k after 10 days of illness) support the diagnosis. Elevated
platelets are key - distinguish other illnesses.
May see sterile pyuria, CSF pleocytosis, mildly elevated hepatic transaminases
Differential dx: Strep disease, toxic shock syndrome, rickettsial infection, measles,
EBV, drug hypersensitivity, systemic onset juvenile arthritis, leptospirosis.
Treatment: High dose aspirin and IVIG - should improve quickly in 2-3 days. Reduces cardiac
complications from 25% to 5%. Reduce aspirin to antithrombotic level and continue 6-8 weeks until ESR is
normal.
Hydrops of gallbladder: Acute distention of GB without stone or inflammation.
NOTE:
Must delay live virus vaccines (MMR, varicella) for 11 months after IVIG! Can give MMR (usually
given at 1 year) if the exposure risk is high, but will have to reimmunize later unless titer testing is okay.
All kids on aspirin should get the flu vaccine! Normally recommended > 6 months. Give to kids on
aspirin because the risk of Reye syndrome if they get the flu while on aspirin.
Reye syndrome: Acute encephalopathy and liver dysfunction, with dying from the disease! Liver disease is
microvesicular fatty infiltration and hepatic mitochondrial dysfunction. Get increased liver enzymes, increased PT and
PTT, and increased ammonia. The increased ammonia causes cerebral edema and encephalopathy.
Scarlet fever: A complication of untreated strep pharyngitis. Can present similarly to Kawasaki, but the rash has a
sandpaper texture and will spare the palms and soles. Also strep pharyngitis has tonsillar exudates.
Leptospirosis:
Most common zoonotic infection worldwide - exposure to cats, dogs, livestock, rats, etc.
Two distinct types of infection anicteric leptospirosis and icteric leptospirosis (Weil syndrome).
Both types start with fever, chills, severe muscle pain, pharyngitis, scleral injection,
photophobia, and cervical adenopathy. Then no symptoms for a few days immune phase
where mengingitic symptoms retrun and can last for a month.
Only 10% are icteric, but those that are have more severe symptoms with liver and
kidney dysfunction
Treat with penicillin and tetracycline (in kids over 10 days)
Measles = Rubeola. Malaise, high fever that peaks at the height of the diffuse, descending rash, cough, coryza
(inflammation of oral mucous membranes), conjunctivitis, koplik spots. Rash lasts 6 days. Can have T-cell leukopenia
and thrombocytopenia (contrast Kawasaki, with high platelets)
Can get subacute sclerosing panencephalitis years later, 1 in 2000 get encephalitis, also giant cell
pneumonia and myocarditis
Rubella: Mild disease. Diffuse rash that lasts for 3 days, marked enlargement of posterior cervical and occipital lymph
nodes, low grade fever, mild sore throat, conjunctivitis, arthralgias or arthritis.
Mumps: Swelling in front of and behind the ear on the affected side (parotitis), altered taste sensation, orchitis, and
can have meningitis 10 days after resolution of the swelling. Treatment is supportive.

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Roseola = HSV6: High fevers that can cause seizures followed by a diffuse macular rash that comes on as the fever
ends
Parvovirus B19 = Fifth disease = Erythema Infectiosum. Presents with mild URI symptoms, retroauricular/posterior
cervical/postoccipital lymphadenopathy. Starts with bright erythema of cheeks and then red maculopapular rash on the
trunk and extremities that clears in about 72 hours.
Rabies: Sources of infection is racoon, skunks, bats, foxes, cyotes. Small rodents (rabbits, mice, squirrels) rarely have
the disease.
Give post exposure prophylaxis even if no obvious bite: clean the wound, rabies immuno globulin, and
rabies vaccine series
Lyme disease: starts with localized disease including erythema migrans, possibly flu-like symptoms, followed by
distinctive period of erythema migrans, arthrlagias, arthritis, and occassionally meningitis, neuritis, and cardiac
arrhythmias
Joint involvement usually days to years after rash. Starts as migratory arthralgias, then goes to
arthritis, usually of the knee. Joint tap will show translucent fluid with 25k leukocytes, lots of neutrophils,
negative gram stain
Lab data is usually normal when only rash is present
Treat with doxycycline if > 8 years old. If < 8, give amoxicillin

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Pediatrics PreTest
Chapter 1: General Pediatrics
19: Treat scabies with permethrin cream - also good for lice in children that are too young for lindane
54-48: There are several classifications for tissue damage caused by extreme cold including:

Frostnip is a superficial cooling of tissues without cellular destruction. Firm, white cold
areas blistering and peeling, sensitive but not painful

Chilblains are superficial ulcers of the skin that occur when a predisposed
individual is repeatedly exposed to cold - get damage to capillary beds redness, itching,
blisters, and inflammation.

Frostbite involves tissue destruction. White/yellow blotchy and painful

Panniculitis: Destruction of fat cells caused by exposure to cold weather or a cold object
Chapter 2: Newborn
Medications while breastfeeding are usually safe.
Exceptions: lithium, cyclosporin, antineoplastic agents, illicit drugs (cocaine, heroin), amphetamines,
ergotamine, bromocriptine (suppresses lactation), propranolol (can reduce growth throughout the pregnancy
and reduce babys ability to increase heart rate and CO at delivery)
Birth trauma:

Erb-Duchenne paralysis: affects C5 and C6 nerve roots useful hand on useless arm
Klumpke paralysis: C7 and C8 nerve roots useless hand on useful arm.
Can have ipsilateral ptosis and miosis (Horners syndrome) from injury to
sympathetic fibers that run along C8 and T1.
Can happen with shoulder dystosia, humeral and clavicular fractures
80% of brachial plexus injuries will recover spontaneously on their own within three months - just give
reassurance. Prognosis depends on whether the nerve was stretched/compressed or totally torn - no need for
MRI initially. But if no recovery, then do surgery at 3-6 months. Outcome is variable.
Can distinguish peripheral injury from central injury (stroke) due to absence of hyperreflexia and
excessive tone

Vaccines:

Give Hep B at birth,

Hib, DTap and IPV start at 2 months
MMR and Hep A at 12 months

61

Chapter 10: Endocrine, Genetic, and Metabolic Disorders

Metabolic disorders:
Tay Sachs (AR)
Onset: 2-6 months, dead by 2-5 yrs
Symptoms: Progressive
neurodegeneration = hypotonia,
weakness, abnormal startle reflex,
macrocephaly from accumulation of
glycolipids. No splenomegaly!
Signs: Cherry red spot, onion skin
lysosomes
Enzyme: Hexosaminidase
Build up: GM2 ganglioside
Move down
Metachromatic Leukodystrophy
(AR)
Onset: 1 year to early adulthood
Symptoms: dementia, ataxia,
peripheral muscle wasting
Signs: Central and peripheral
demyelination
Enzyme: Sulfatase A = cerebroside
deamidase
Build up: cerebroside sulfate

Fabry Disease (X-linked rec)

Onset:
Symptoms:burning painful hands and
feet from neuropathy,
angiokeratomas, cardiac and renal
disease,
Signs:
Enzyme: alpha galactosidase aka
trihexosidase
Build up: ceramide trihexose =
globoside
Treatment: replace enzyme!
Move left

Move right
Krabbe Disease (AR)
Onset: babies
Symptoms: peripheral neuropathy,
developmental delay, optic atrophe,
hyperacusis, irritability, seizures
(eyes like krabbe apples)
Signs: Globoid cells
Enzyme: Galactocerebrosidase
Build up: galactocerebroside

Move right

Gaucher Disease (AR)

Onset:
Symptoms: Most common form is
adult type 1 and doesnt involve
CNS. Bone marrow gets replaced
with enlarged Gaucher cells
anemia, leukopenia, and
thrombocytopenia. Liver and
spleen can be involved.
Signs: erlenmyeyer flask femur,
gaucher cells are engorged in bone
marrow
Enzyme: beta glucocerebrosidase
Build up: glucocerebroside
Treatment Replace enzyme

Neiman Pick (AR)

Onset:
Symptoms:Progressive
neurodegeneration,
hepatosplenomegaly, cervical
lymphadenoapthy
Signs: Cherry red spot on macula,
foam cells, erlenmeyer flask femur
Enzyme: Sphingomyelinase
Build up: Sphingomyelin

Move left
Tyrosinosis: Accumulation of tyrosine and metabolytes severe involvement of liver, kidney, and CNS.
Can have acute liver failure in infancy, more chronic form with progressive cirrhosis that causes liver
failure or hepatoma. Dietary management wont prevent liver disease. : (
Mucopolysaccharides
1. Hunter syndrome - mild Hurler symptoms, aggression, no corneal clouding

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2. Hurler syndrome - born normal but then progressive developmental delay, hepatosplenomegaly, and
coarse facial features from deposition of dermatan sulfate and heparan sulfate in the body. Also cloudy
corneas, deafness, claw hand, umbilical hernia.
a. Will have excessive excretion of those substances in the urine.
Trouble with carbohydrates
Glucose 6 phosphatase deficiency = von Gierkes = Glycogen storage disease type 1: Cant
convert glucose 1P to glucose impaired gluconeogenesis.
Causes hypoglycemia, lactic acidosis, hepatomegaly, doll-like face, thin extremities,
short, milky appearing blood from increased triglycerides.
Abnormally small aqueous compartment of serum causes factitiously low Na+ and K+
Electrolyte abnormalities
Addison disease: combined deficiency of glucocorticoids and mineralocorticoids. Usually have
normal electrolytes, but Addisonian crisis will cause hyponatremia, hyperkalemia, and shock
Conn syndrome: Primary hyperaldosteronism hypernatremia and hypokalemia with
alkalosis
21 hydroxylase deficiency: lack of aldosterone and cortisol. Have hyponatremia and hyperkalemia
Diabetes insipidus: central or nephrogenic. Either way end up with high concentrations of sodium
and potassium.
Other zebras:
Jeune syndrome = asphyxiating thoracic dystrophy: short stature, long and narrow thorax,
hypoplastic lungs, fibrotic liver, and short limbs. Death from pneumonia or asphyxia.
Crouzon syndrome: AD condition with craniosynostosis, proptosis, brachycephaly, hyperteolorism
and strabismus, beak nose, midface hypoplasia, high and narrow palate
Cri-du-chat syndrome: Cat cry, microcephaly with protruding metopic suture, hypotonia, short
stature. From deletion of 5p.
Alkaptoniuria: AR disorder caused by deficiency of homogentistic acid oxidase, part of metabolism of
tyrosine on the way to the TCA. Urine turns dark on exposure to air because of oxidation of homogentisic acid
derived from tyrosine that backs up, otherwise asymptomatic in kids.
In adults, get ochronosis - deposition of blue pigment in cartilage and fibrous tissue,
may get arthritis.
No treatment available, but vitamin C may delay symptom onset.
Lesch-Nyhan syndrome: X-linked recessive deficiency in hypoxanthine-guanine phosphoribosyl
transferase (HPRT) means that kids cant recycle purines, have to make them fresh, which causes excessive
uric acid production.
Symptoms: self-mutilation (biting), neuro features (MR, dystonia, choreoathetosis,
spasticity), gouty arthritis and tophi - suspect if you see a boy with gout!
Treat with allopurinol or febuxostat
Zebras that cause obesity in kids:
Laurence-Moon-Biedl (Bardet-Biedl) syndrome: AR, obesity, MR, hypogonadism, polydactyly,
retinitis pigmentosa with night blindness
Frohlich syndrome = adiposogenital dystrophy= rare cause of childhood obesity associated with
hypothalamic tumor
Others
Alpha-1 antitrypsin deficiency: in infancy, often see cholestasis, bleeding into the CNS/GI
tract/umbilical stump, elevanted liver enzymes. In kids, get cirrhosis, chronic hepatitis, portal HTN
Menkes syndrome: Cant absorb copper. Presents with hypothermia, hypotonia, myoclonic seizures.
Chubby rosy cheeks and kinky friable hair. Severe MR.

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