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Cardiovascular
PDA: ductus usually closes within 10-15h and almost always by 2 days of birth
AV canal / endocardial cushion / AV septal defect: contiguous atrial, ventricular septal defect.
large systolic pulmonary flow murmur + LLSB diastolic murmur heard; can have wide split S2
Physiology
Diagnosis
Treatment
Prostaglandin (open
PDA), then create
ASD (atrial
septostomy) via cath
for palliation;
definitive surgery in
first 2 wks
Tetralogy of
Fallot
Surgery
Valvuloplasty via
cardiac cath.
Pulmonary
valve stenosis
Tricuspid
atresia
VSD for mixing. Leads to RV The only cyanotic heart disease with
hypoplasia.
LVH on EKG, exam, echo (others have
bigger RV!)
Ebstein anomaly Regurgitant tricuspid
valve displaced towards
bottom of R heart (small
RV results). Obstructs
ventricular outflow (large
anterior leaflet
TAPVR: Total
anomalous
pulmonary
venous return
Anomalous pulmonary
veins enter systemic veins
(oxygenated blood shunted
back to venous side!) Must
have ASD/PFO for mixing
Surgery (emergent if
obstruction, within 1
mo of life if not)
Hypoplastic left
heart syndrome
Prostaglandin,
Palliation
(Norwood, Glenn,
Fontan staged repair)
/ transplant
Pulmonary
atresia with
intact ventric.
septum (PA-IVS)
Prostaglandin
Surgery
Truncus
Arteriosis
Cardiac surgeries
Norwood procedure: connect subclavian to pulmonary artery (modified blaylock-taussig shunt) to get
blood to lungs. Problem: expose lungs to high systemic pressures. In hypoplastic L. heart syndrome, the RV
is essentially pumping systemic circulation (PA to aorta via maintained PDA), so you need another way to
get blood to lungs - hence this procedure.
Bi-directional Glenn (Hemi-Fontan): SVC connected to pulmonary circulation. Lungs now getting much
lower venous pressures (better) but IVC still dumping deoxygenated blood into RA->RV->PA->PDA->Aorta
(mixes!)
Fontan procedure: connect IVC to pulmonary circulation (completing the Fontan) - now all deoxygenated
blood (SVC and IVC) goes to lungs, and RV is providing pump action for systemic circulation (like the LV
usually does)
Benign murmurs:
Diastolic = pathologic. For systolic:
as murmur at 4-10 days of life (PVR needs to fall enough to create gradient)
Severity depends on size. Small = small L to R shunt, no change in R sided pressures. Moderate =
resistance to pressure, not to flow (no R side pressure increase, but more flow = can overload L atrium, L
ventricle by increasing return). Large essentially creates a single pumping chamber with two outlets; again
can overload by increasing return into L heart; can PVR as well --> eisenmenger syndrome when PVR >
SVR (R-->L)
What to do?
Workup: EKG (look for LVH, L atrial enlargement) +/- CXR (can show increased vascular
enlargement, chamber enlargement) both only with findings in moderate/large VSD.
Moderate to large VSDs p/w heart failure by 3-4 wks age. Refer to cardiology. 50% can be
managed medically (diuretics, ACEi, digoxin), 50% will need surgery.
Small VSDs usually remain asymptomatic. 75% will close within first two weeks of life. Schedule
appt at 3-4 wks (when they would declare themselves) & educate about signs. If still
asymptomatic at 3-4 wk checkup, peds cards followup at 8-10 weeks, then at 12 months if still
growing well.
Endocarditis: Fever & new murmur, may have nonspecific chest pain. strokes, hematuria are the more
common embolic phenomena in kids (Roth spots, splinter hemorrhages, petechiae, Osler nodes, Janeway lesions
less common in peds)
Most commonly strep viridans (alpha-hemolytic strep) & staph aureus.
If a complication of cardiac surgery, also consider fungi, staph epi.
GNRs more likely if neonate, immunocompromised, IVDU
Abx ppx before dental procedures if: prostetic valve, previous endocarditis, CHD thats unrepaired /
have palliative shunt / conduit / prosthetic material, or heart transplant pts with cardiac valvular
disease only!
CRP, ESR, WBC elevated. Get an echo to look at valves. Give 6 weeks IV abx directed therapy.
Myocarditis: mostly coxsackie B, alsocCoxsackie A, adenovirus, echovirus.
Fever, dyspnea, fatigue, chest pain (from secondary pericarditis). looks like CHF (cardiomegaly, edema,
pulmonary edema / dyspnea, pallor, tachypnea / tachycardia)
EKG: low voltage, ST depression, T-wave inversion.
Echo: dilated ventricles, poorly functioning (depressed CO)
PCR for viruses, may need biopsy.
Dilated cardiomyopathy: in kids, from recent myocarditis (idiopathic), neuromuscular dz (DMD), or drug
toxicity (e.g. anthracyclines), or can be familial
Signs / sx : CHF, pulmonary edema.
Treat like CHF: diuretics, fluid restriction, vasodilators & inotropes
Hypertrophic cardiomyopathy: Aut dom with incomplete penetrance. can present as sudden death in young
athlete stereotypically.
thickened ventricular septum --> LV outflow tract obstruction. Leads to systolic ejection murmur @
LLSB / apex with soft holosystolic mitral regurg murmur, may have LV heave / thrill. Murmur gets softer
with squatting, laying down & louder with strain / Valsalva, standing up (more blood in LV means less
obstruction) - the opposite of aortic stenosis
EKG: see LVH, left-axis dev, may see signs of strain / ischemia. Echo is diagnostic.
Tx: Ca-channel blockers, beta-blockers. Avoid competitive sports (4-6% mortality per year).
Arrhythmias
Bradyarrhythmias:
Sinus bradycardia: often normal in young healthy athletic kids. <60 in older children, <100 in neonates
First degree heart block: PR > 200ms.
A/w increased vagal tone, meds (digoxin, beta-blockers), infections (viral myocarditis, Lyme),
hypothermia, electrolyte problems, CHD, rheumatic fever.
Second degree heart block:
Mobitz I / Wenchebach: Progressive PR prolongation, then QRS dropped. Same etiologies as
1st degree heart block. Less serious.
Mobitz II: abrupt failure of AV conduction - sudden dropped QRS after normal P. More serious
than Mobitz I or 1st degree heart block (can progress to total heart block).
Fixed ratio: 2:1, 3:1, etc. blocks. From AV node or His injury. May progress to total heart block
Third degree heart block: Total A-V dissociation.
Can be junctional escape (normal QRS interval), or ventricular escape (slower, wide QRS).
A/w open heart surgery, congenital heart malformations, Lyme disease, cardiomyopathy.
Dont need to treat 1st degree or Mobitz 1. For others, may need prophylactic pacemaker / defib.
Tachyarrhythmias: Rate > 250: think tachycardia, even in the little ones.
Classically, narrow-complex are well tolerated; wide-complex can be an emergency.
narrow: think SVTs, WPW, AVNRT, A-flutter, A-fib
For reentrant tachycardias: vagal nerve stim (carotid massage, ice, strain) then IV adenosine
wide: V-tach / V-fib. Emergency time!
If hemodynamically stable, can try amiodarone or procainamide (not together) & consult cards
If unstable, PEA algorithm: if pulseless, non-synchronized cardioversion @ 2J/kg, CPR, ACLS.
Wolf-Parkinson-White: see delta wave resting, representing accessory pathway
Congenital long QT: think channelopathies. can lead to TdP (give Mg to treat!)
Jervell-Lange-Nielsen: long QT + sensorineural hearing loss
Romano-Ward: no sensorneural hearing loss (strictly cardiac; worse)
Hypertension in kids: more likely secondary than kids, although primary essential is increasing. check for
pheo, renal artery stenosis, neuroblastoma, etc.
Need 3x elevation > 95% adjusted for age, sex, height.
make sure cuff covers 75% of upper limb, right cuff side, take multiple extremities if indicated
Pharm therapy
younger kids: diuretics, beta blockers, ca channel blockers
older kids: can use ARB / ACEi in adolescents, adults)
hypertensive crisis: sublingual nifedipine, IV nicardipine, IV nitroprusside, labetalol. Can use
hydralazine in neonates. Monitor closely & avoid sudden drops (cerebral perfusion autoregulated
to higher pressures; can stroke out).
Dermatology
Atopic dermatitis (eczema) Infants (birth-2) - present ~ 3mo with dry, red, scaling cheeks (e.g. winter time), may be exudative,
without perioral, paranasal involvement, sparing diaper area, very pruritic & interfering with sleep
Childhood: inflammation in flexural areas; perspiration --> itching/burning --> scratching --> irritation -->
etc. See papules that coalesce into plaques; can see lichenification with itching.
Older kids / adults: pruritic, recurrent, flexural, onset again around puberty, hand dermatitis /
periorbital / anogenital.
Runs with other atopic disorders (allergic rhinitis, asthma).
Watch out for bacterial superinfection, diffuse cutaneous HSV (punched-out red umbilicated vesicles)
Dx: lab studies not great; serum IgE may be helpful.
Tx: emollients, antipruritics (topical corticosteroids or antihistamiens), to control inflammation, avoid
drying soaps, use lubricants (e.g. eucerin, vasaline) after bathing. Avoid topical fluorinated
corticosteriods on face, genetalia, intertriginous area (can depigment / thin the skin)
Tacrolimus, pimecrolimus: nonsteroidal immunomodulators for more refractory cases
P. acnes is implicated.
Categories: inflammatory (papules/ pustules/nodules/cysts) or non-inflammatory (just comedones)
Treatment:
start with benzoyl peroxide or topical Retin-A (tretinoin); often try benzoyl peroxide in morning,
tretinoin at night (need to wash benzoyl peroxide off first for tretinoin to work)
Tinea barbae: can be confused with acne - resembles tinea capitis. requires systemic antifungals, not topical
Neonatal acne: 20% neonates in 1st month of life; cause unknown (hormone transfer?), self-limited
Tinea capitus: Most commonly Trichophyton tonsurans (also microsporum canis from animals)
Patches of scaling and hair loss with black dot sign (broken off hair shafts)
Need oral griseofulvin (topical agents not effective, although do use selenium sulfide shampoo as adjunct
to kill spores) for 4-6 wks.
Tinea corporus: ring worm, tinea pedis: feet, often in moccasin distribution, interdigital spaces; tinea cruris:
jock itch, all most commonly from microsporum rubrum. Treat with topical antifungals (e.g. clotrimazole)
Tinea versicolor: superficial tan / hypopigmented oval / scaly patches on neck, upper part of back /chest, most
notable when rest of skin is tan from sunlight - treat with selenium sulfide shampoo or other antifungal
agents.
Development
Gross motor
Fine motor
Language
Social
1 mo
Follow eyes to
midline only, hands
clenched
Alerts / startles to
sound; starts
vocalizing a bit
Regards parents
faces
Smiles
spontaneously
Responds to bell
2 mo
Coos, reciprocal
vocalization
Smiles socially,
laughs, squeals,
recognizes parent
Other
Sleep through
night (2-3 mo)
3 mo
4 mo
Rolling over
Head control with no
lag; lifts onto elbows
Orients to voice,
laughs, squeals
Initiates social
interaction
6 mo
Babbles
Recognizes objects,
persons as
unfamiliar
9 mo
Babbling still, no
understood,
nonspecific mama,
dada,
12 mo
Walk holding on to
furniture (cruises), a
few independent steps
Imitates, comes
when called,
cooperates with
dressing
15 mo
Walks well
independently
18 mo
2 yr
50 words total
2 word sentences
50% speech
intelligible to stranger
Removes simple
clothes, parallel play
Copies circle
250+ words
3-8 word sentences
75% speech
intelligible
4 yr
Copy square /
cross, catches ball
Fully
understandable
language - can tell a
story 4 colors, can
define 5 words, knows
3 adjectives
5 yr
names 4 colors,
plays cooperative
games,
understands rules
6 yr
Rides bike
Writes name
Written letters,
numbers
3 yr
Introduce
juices in cup,
not bottle
Potty training
(or when child
shows
interest)
Endocrinology
Diabetes
Criteria for DM:
Casual glucose > 200 with signs / sx
OGTT > 200 on 2 occasions
FBG > 126 on 2 occasions
HbA1c > 6.5%
Presentation of DM: Kids mostly symptomatic. in DKA, others with polys, other sx. Vs adults (screening)
MODY: monogenetic (autosomal dominant) family of disorders
Think young adult, late teen without obesity but w/ T2DM-ish presentation (but no insulin resistance)
Involve transcription factors in beta-cell development, glucokinase, etc.
T2DM: think of risk factors (obesity, FHx, > 9-10 years old). Can present in DKA in kids
Insulin is an option, but often start with oral agents (all of which drop A1c by 1-2%)
Metformin is usually whats used first
T1DM: patients are younger at onset
Anti-islet cell, anti-GAD, anti-insulin, anti-IAZ antibodies
T-cell mediated process; ab are just marker of cell destruction
Check for insulin production in 1-2 years to distinguish (if still making insulin, probably T2DM)
Honeymoon phase: still making insulin. high blood glc is toxic to beta cells. When you start insulin,
decreased glucose increases beta cell function; can stop insulin for a while.
DKA vs HHS
DKA: ketoacidosis with elevated gap, ketones in urine
HHS: lactic acidosis with elevated gap, few ketones in urine
10
Should keep you the same before / after meal - check before/after at a time when no
correction dose was given to assess
Correction dose = 1800 / TDD (give 1 unit insulin per x mg/dL glc over target)
Should bring you to your target if the I:C ratio is correct - once you have the I:C ratio
right, then see if youre hitting the mark with correction doses.
Somogyi phenomenon: nocturnal hypoglycemic episodes (night terrors, H/A, early morning sweating) then
present a few hrs later with hyperglycemia, ketonuria, glucosuria (counter-reg hormones responsible)
DKA management:
Fluid resuscitation: calculate fluid deficit, replace over 24h. Run lac ringers or IVNS @ 10mL/kg to start.
Insulin drip @ 0.1 U/kg/hr; goal to decrease glucose 50-100 mg/hr (too fast a drop = cerebral edema!)
Add dextrose when glucose approaches 250-300 to prevent hypoglycemia
Monitor for hypokalemia frequently & replace (total body K is down!)
Hypoglycemia: sympathetic symptoms (sweating, shaking, tachycardia, anxiety) & neuro sx (H/A, confusion,
irritability, lethargy, coma, etc)
If glucose < 50 mg/dL, get a critical sample (CMP with bicarb, insulin, c-peptide, cortisol, GH, free fatty
acids, beta-hydroxybutyrate, acetoacetate, lactate, ammonia) to help determine etiology later!
Diabetes insipidus: not enough ADH. From brain tumors, CNS infections, surgical removal of craniopharyngeoma
Polydypsia, polyuria; dx with dilute urine (SG < 1.010, Uosm < 300) in setting of hypertonicity (hyperNa)
Usually not a problem unless not taking in enough water. Treat with DDAVP
SIADH: too much ADH. Psych dz, encephalitis, drugs (lisinopril, carbamazepine, TCAs)
normovolemic hyponatremia with concentrated urine, normal renal fxn. Na < 125 = sx
Dx of exclusion - r/o hyperglycemia, increased serum lipids.
manage with fluid restriction; acutely can use hypertonic saline to raise Na by 0.5 mEq/hr, max 12
mEq/hr to avoid central pontine myelinolysis
11
21 hydroxylase deficiency: 90% of CAH cases, aut rec trait, can be salt wasting or virilizing
Need 21 hydroxylase to make aldosterone / cortisol; if not, precursors back up & end up with androgens
Decreased cortisol / aldosterone --> increased ACTH, 17 hydroxyprogesterone
Virilization with low BP, salt wasting, low cortisol - FTT, shock, dehydration, hypoNa/hyperK
Females: ambiguous genitalia with normal ovarian development / internal structures
Males: no genital abnormalities
Will need cortisol therapy and fludrocortisone if needed for mineralocorticoid replacement
11 hydroxylase deficiency: also autosomal recessive
Inhibits aldosterone, cortisol production again, but deoxycorticosterone precursor has
mineralocorticoid activity - so you get hyperNa, hypoK, HTN along with increased androgen levels
Addison disease: primary adrenal insufficiency.
Congenital (adrenal hypoplasia, ACTH unreponsiveness) or acquired (W-F syndrome with meningococcus,
adrenal hemorrhage). autoimmune more common in older kids / adolescents & a/w DM type 1,
thyroditis, etc.
Weakness, N/V, wt loss, H/A, salt craving, postural hypotension; can get increased pigmentation
(melanocyte stimulating hormone ramped up with increased ACTH) - Addisonian tan.
Adrenal crisis: fever, vomiting, dehydration, shock from illness, trauma, surgery - emergency!
See hypoNa, hyperK, hypoglycemia, mild met acidosis
Treat with corticosteroids, stress dose when needed. Need mineralocorticoids too if whole adrenal
involved.
Secondary adrenal insufficiency: caused by ACTH deficiency (usually withdrawal of chronic steroid therapy,
more rarely from pituitary tumors, etc).
Sx like primary AI, above; treatment similar but dont need mineralocorticoids if just ACTH deficient.
Cushings syndrome
Cushings disease: bilateral / congenital adrenal hyperplasia from pitutiary adenoma is #1 cause in
12
Congenital hypothyroidism:see constipation, prolonged jaundice, sluggishness, poor feeding, apnea, choking,
macroglossia, excessive sleepiness.
Avoid delays: initiate oral levothyroxine.
low FT4, high TSH. 90% in US have thyroid dysgenesis. Screened as neonates.
Pseudohypoparathyroidism (Albright hereditary osteodystrophy) - PTH-resistant at receptor level
Chemical findings of hypoparathyroidism (low Ca, high phos) but high PTH
Short stature with delayed bone age, MR, increased bone density esp in skull, brachydactyly of 4th and
5th digits, obesity with round faces, short neck, subcapsular cataracts, cutaneous and subQ
calcifications, perivascular calcifications of the basal ganglia.(theyre PTH-resistant at receptor level)
Fluids
MIVF: Remember: 100/50/25 mL/kg/day, or 4/2/1 mL/hr (for first 10kg/ second 10 / rest of kg)
Short-cut: if over 20 kg, needs wt in kg + 40 mL/hr
Use D5W or NS + 20 mEq KCl ( for younger kids, for older; add K if needed)
Dehydration:
Replacing losses: calculate deficit from above. Replace half over first 8 hours, rest over next 16h
If they got a bolus already, subtract that from the first half. If unstable, give 20 cc/kg boluses until theyre
not unstable anymore.
Example: 20kg kid who is 10% dehydrated (moderate) and got a 20 mL/kg bolus in the ED
Deficit = 2kg = 2,000 mL. Want to replace 1,000 in first 8 hours, 1,000 in next 16 hours
MIVF for him is 60 mL/hr
First 8 hrs: 1,000 - 400 cc bolus already given = 600 over 8 hrs = 75 cc/hr. Add in MIVF: give
75cc/hr + 60 cc/hr = 135 cc/hr
13
Next 16 hrs: 1,000 cc / 16 hr = 62.5 cc/hr. Add in MIVF: give 62.5cc/hr + 60cc/hr = 122.5 cc/hr
Results
Warfarin (Coumadin)
Ethanol
Isotretinoin (Accutane)
Lithium
Penicillamine
Phenytoin (Dilantin)
Radioactive iodine
Diethylstilbestrol
Streptomycin
Deafness
Testosterone-like drugs
Virilization of female
Tetracycline
Thalidomide
Trimethadione
Valproate
Spina bifida
Chromosomal disorders
Trisomy 21:
5th finger brachydactyly & clinodactyly, upslanting palpebral fissures, epicanthal folds, redundant nuchal
skin, single transverse palmar crease, Brushfield spots (white/gray spots in periphery of iris), flat facial
profile, small, rounded ears, hyperflexible joints, poor Moro reflex, brachycephaly, wide 1st/2nd toe
spacing, short stature. hypotonia & often slower feeding noted early on.
14
UE3
hCG
Associated conditions
low
low
high
Down Syndrome
low
low
low
n/a
neural tube defects like spina bifida associated with increase levels of
acetylcholinesterase in aminonic fluid, or omphalocele, or gastroschisis, or
multiple gestation
high
n/a
15
aorta (and bicuspid aortic valve), low posterior hairline, prominent, low-set ears broad shield chest with
widely spaced nipples, excessive nuchal skin, hypothyroidism, decreased hearing, edema in hands/feet as
newborns, cubitus valgus (increased carrying angle of arms). Normal mental development.
Fragile X: #1 cause inherited mental retardation. Mostly in boys; intellectual disability + macrocephaly, long
face, high arched palate, large ears, macroorchidism after puberty.
VATER: Vertebral probs, Anal anomalies, Tracheal defects, Esophageal abnltys, Radius or Renal abnormalities
Potter sequence: lack of nl infant kidney fxn --> reduced urine output --> oligohydranmios --> constraint
deformities: wide-set eyes, flattened palpebral fissures, prominent epicanthus, flattened nasal bridge,
micrognathia, large, low-set ears
Storage disorders
Disease
Deficient/ builds up
Features
Tay-Sachs
B-hexosaminidase A
(a GM2 gangliosidosis)
Sandhoff
B-hexosaminidase A&B
(a GM2 gangliosidosis)
Niemann
Pick
Sphingomyelinase
Gaucher
B-glucosidase
Krabbe
galactocerebrosidase
Fabry
B-galactosidase
Hurler
a-iduronidase
Hunter
iduronate-2-sulfatase
Metabolic disorders
When these kids get sick, give them glucose (they go crazy catabolic & all kinds of stuff builds up--> big time high
AG met acidosis, and they get in trouble fast).
16
Galactosemia
(a disorder of
carbohydrate
metabolism)
PKU (a disorder
of amino acid
metabolism)
Deficiency in phenylalanine
hydroxylase (cant convert
phenylalanine to tyrosine).
Neonatal screened. Tx: restrict
phenylalanine consumption
Homocystinuria
(d/o of amino
acid metabolism)
OTC Deficiency
(AA / urea cycle
disorder)
Glycogen storage diseases: all aut-rec, growth failure, hepatomegaly, fasting hypoglycemia
Type I: von Gierke, type II: Pompe, type V: McArdle
Treat: prevent hypoglycemia while simultaneously avoiding even more glycogen storage.
Gene
Comments
4p
FGFR3
PKD1/PKD2
Hereditary angioedema
11q
C1NH
Hereditary spherocytosis
8p, 14q
ANK1
Marfan syndrome
15q
FBN1
Neurofibromatosis
2p, 17q,
22q
NF1/NF2
Protein C deficiency
2q
Multiple genes
Hypercoagulable state
Achondroplasia
17
Tuberous sclerosis
9q, 12q,
16p
TSC1, TSC2,
TSC3, TSC4
12p
Multiple genes
Autosomal recessive
Chr
Gene
Comments
Congenital adrenal
hyperplasia
6p
CYP21A2,
CYP11A1,
CYP17, ACTHR
Cystic fibrosis
7q, 19q
CFTR
Galactosemia disorder
9p
GALT
Carbohydrate metabolism
Gaucher disease
1q
GBA
Infantile polycystic
kidney
6p (or 16p =
PKD1, TSC2)
PKD3
Phenylketonuria
12q
PAH
11p
HBB
Tay-Sachs disease
15q
HEXA
Wilson disease
13q
ATP7B
X-linked recessive
Comments
Bruton agammaglobulinemia
Color blindness
Duchenne muscular dystrophy
Glucose-6-phosphate dehydrogenase
Hemophilias A and B
Lesch-Nyhan syndrome
18
GI/Nutrition
Normal caloric requirements:
120 kcal/kg/d in first year of life
100 kcal/kg/d afterwards
50-100% more if FTT for catch-up growth
Formula has 20 kcal/oz (30cc = 1 oz) generally (if prepared properly)
Feeding:
Breast exclusively + vitamin D, iron for first 6 months (or formula)
Add iron fortified cereals at 4-6 months
Start baby foods at 6 months (fruits, veggies); introduce one new food at a time.
Whole milk at 12 months until 24 months; skim milk at 24 months
Dont prop bottle! get caries!
Colic: recurrent irritability, several hours long, late afternoon/ evening, draws knees to abdomen & cries
inconsolably, but then stops spontaneously
Formula/milk/table food & nutrient deficiencies:
Goats milk lacks folate, B12, iron. If unpasteurized, brucellosis can be a problem
Breast milk lacks vitamin D. Can exacerbate jaundice (higher unconjugated bilirubinemia; 12-24h hiatus
to fix), and associated with low vitK levels (but given at birth). Breast-feeding vegan moms are given B12
(may be deficient; child could develop methylmalonic acidemia); so are vegan toddlers.
Whole milk is low in iron; table foods dont have iron either - so if a kid is switched to whole milk, table
foods at too young an age, can develop iron deficiency anemia
Breast feeding
Contraindications: active pulm TB, HIV, also malaria, typhoid fever, septicemia, antineoplastic agents
OK: mastitis (frequent feedings can help by preventing engorgement!), mild viral illness, cracked /
bleeding nipples (despite discomfort)
OK for breast-feeding mom
19
Sx when taking milk; manage with lactose-free formula like soy milk
Toxicities:
Toxicity
Sx / Dx
Look for hx of exposure
Sx: anorexia, hyperirritability, altered speech pattern developmental regression, abdominal
complaints. Can progress to encephalopathy (vomiting, ataxia, altered MS, coma, sz).
Lead
Dx: blood lead level. Also stored in bone (lvls can rise after chelation as Pb released from bone!)
Tx:
Organophosphate
Orellanine
PCBs
Polychlorinated biphenyls; cross placenta / go to breast milk, ? cause behavioral probs later
Cyanide
Mercury elemental
Methyl
mercury
(contaminated fish)
Adults: fine tremors in upper extrem, blurry vision, anosmia / taste probs, dementia, death
Infants exposed in utero: LBW, microcephaly, sz, developmental delay, vision/hearing probs
Inorganic
mercury
Arsenic
Nausea, vomiting, abdominal pain, diarrhea; can get third spacing / hemorrhage in gut; also
long QT, CHF, sz, cerebral edema, coma. Get loss of DTRs, paralysis, dysesthesias neuro-wise
TCAs
Acetaminophen
20
Anticholinergics
CO
Ethylene
glycol
Methanol
N/V, inebriation, increase in minute ventilation as met acidosis develops, blurred vision
Get serum methanol level; high AG met acidosis
Treat with ethanol to block metabolism, NaHCO3 to correct met acidosis
Salicylates
Hypernea / tachypnea: mixed respiratory alkalosis & metabolic acidosis (see increased pH
with decreased PCO2 and bicarb). get serum salicylate level
Treat with activated charcoal & alkalinize serum, correct hypoK
Activated charcoal:
Good for enterohepatic circulation drugs (TCAs, pentobarb) and those with prolonged absorption (e.g.
sustained release theophylline) to clear out from gut
Administer during first few hours after ingestion if indicated.
Not good for alcohols, acids, ferrous sulfate, strong bases (drain cleaners, oven cleaners), cyanide,
lithium, potassium - not absorbed by particles on surface
Nutrients:
Nutrient
Deficiency
Excess
Vitamin A
Vitamin D
Vitamin E
Unknown
Vitamin C
(ascorbic acid)
21
Thiamine (B1)
Unknown
Riboflavin (B2)
Unknown
Niacin
Pyridoxine (B6)
Sensory neuropathy,
also fever & pain
Folate
Usually none
B12
Unknown
Pantothenic acid
Unknown
Biotin
Unknown
Vitamin K
Hemorrhagic manifestations
Biliary Atresia: bile duts blocked, fibrotic --> no bile flow into bowel.
Kasai procedure (bowel loop forms duct to drain bile from liver) can be useful.
Poor bile flow (biliary atresia, liver failure) = poor ADEK absorption
Primary (familial) hypophosphatemia: #1 cause of nonnutritional rickets, X-linked dominant dz
abnl phosphate reabsorption; abnl 25vitD to 1,25vitD conversion in prox tubules of kidney abnormal
Low 1,25vitD, low=normal Ca, low phosphate, elevated alk-phos, hyperphosphaturia, no hyperPTH
Smoother lower extremity bowing (Ca-dependent rickets = more angular), waddling gait, no rachitic
rosary, tetany, etc.
Renal osteodystrophy: low/nL serum ca, incr. serum phosphorus, incr. alk phos.
Hypophosphaturia --> hypocalcemia --> incr. PTH --> more bone turnover
also low production of 1,25vitD with kidney damage
DDx of rickets: Schmid metaphyseal dysplasia (aut-dom, short stature, bowing legs, waddling gait)
irregular long bone mineralization but normal Ca/phos/alk phos levels.
22
NL
Phos
Low
PTH
Other
NL
HIGH
Pseudohypoparathyroidism
Low
High
Osteogenesis
Imperfecta
NL
NL
Hypoparathyrodism
Low
High
LOW
Medullary thryoid Ca
NL
NL
NL
Intussusception:
(bilious) emesis + intermittent abdominal pain, bloody stools (currant jelly = late finding), kid draws
up knees in pain.
classically sausage-shaped / tubular mass on exam, often with lead point (lymphoma, meckels
diverticulum, etc) around ileocecal valve
get air contrast enema for dx / tx
Malrotation/volvulus: think about in neonates with bilious emesis 2/2 obstruction.
If prolonged, can have necrotic bowel - melena/hematochezia, peritonitis, acidosis, sepsis
Malrotation: incomplete intestinal rotation in first trimester
Ligament of treitz - usually fixes duodenojejunal junction to L spine; here, ligament on R side, small
bit of mesentary can be axis for gut to turn around
Volvulus: mesentary twists around small intestine --> decreased perfusion, ischemia, necrosis
Classic findings: corkscrew pattern of duodenum (barium going through twisted portion, looks
like corkscrew), or birds beak of 2nd/3rd duodenal portions. Get upper GI series to evaluate.
Requires emergent surgical intervention after fluid status evaluated & fixed if neded.
Also place NG tube to decompress; get cx and initiate IV abx (sepsis workup)
23
Appendicitis: classically abdominal pain followed by nausea / vomiting; periumbilical to RLQ migration
Bloody emesis: think about M-W tears, NSAIDs, liver dz; also think juice, beets, red jello, liquid meds
Black stool: think about diarrhea, constipation / tears, etc; also think Fe ingestion, bismuth, blackberries
Gastric lavage can help determine if upper GI & brisk (prox to ligament of Treitz) or lower GI in bloody stools.
Signs, sx
Abdominal migraines
Appendicitis
Bacterial enterocolitis
Cholecystitis
RUQ pain
Diabetes mellitus
HSP
Hepatitis
Incarcerated inguinal
hernia
Intussuception
Malrotation with
volvulus
Nephrolithiasis
Pancreatitis
PNA
SBO
Strep pharyngitis
Testicular torsion
Tracheo-esophageal fistula:
most commonly involves esophageal atresia (blind pouch) with esophagus coming off of trachea proximal
to karina. Associated with VATER (Vertebral abnormalities, Anal abnormalities, T-E fistula, Radial/Renal
anomalies); DiGeorge syndrome (VSD, great vessel problems, esophageal atresia, bifid uvula, etc).
Dx: Polyhydramnios in utero. After birth: failure to pass orogastric tube in a newborn whos choking;
see coiled tube on film. At risk for aspiration (suction constantly while awaiting surgery)
H-type TEF can present later (several months of age with recurrent aspiration PNA)
Can also see with modified barium swallow with fluoro
Eosinophilic esophagitis: intermittent vomiting, dysphagia, epigastric pain; food getting stuck, no help from
acid blockade (vs GERD).
24
Eosinophils on biopsy. Can have atopic / food allergy hx. Rx with corticosteroids.
Peptic ulcer disease: kid with FHx PUD or PUD sx, nocturnal abd pain, GI bleeding (pain #1 sx)
Get upper GI endoscopy
Test for H. pylori (e.g. urea breath test), treat with acid blockade / abx triple therapy
Hirschprung: suspect in children with intractable chronic constipation without fecal soiling
Neonatal hx delayed passage of meconium - can have distention, N/V
Also at risk of developing enterocolitis.
Bx: increased acetylcholinesterase, absence of ganglia cells.
Also have failure of internal sphincter to relax with balloon distention of the rectum on anal
manometry. Can see transition zone on contrast enema (dilated proximal bowel; abnormally
narrow distal segment which is aganglionic).
Tx: surgery (colostomy, pull-through)
Vs functional constipation where you more often see overflow diarrhea
Meckel diverticulum: painless rectal bleeding in first 2 years of life
remnant of the vitilline duct (connects yolk sac / intestine; here stays as diverticulum connected to ileum)
1.5% of population has it, but rarely causes symptoms
If symptomatic, usually has acid-secreting gastric mucosa in lining; can lead to ulcerations, bleeding,
diverticulitis, rarely perforation or can undergo eversion / intussuception
Dx with Tec-99 scan (labels gastric mucosa), fix with surgical excision.
Overweight Syndromes:
Prader-Willi: hypotonia, hypogonadism, hyperphagia after newborn period, MR, obesity
deletion in Paternal chromosome 15. Little in utero movement.
hypotonic as neonates and can initially have FTT / feeding problems
Laurence-Moon-Biedel (Bardet-Biedel): aut-rec trait, obesity, MR, hypogonadism, polydactyly,
retinitis pigmentosa with night blindness
Frohlich syndrome: childhood obesity associated with hypothalamic tumor
GU/Urinary
Labial adhesions: benign condition, fused labia majora, common in preadolescent (low estrogen) girls
Can cause urine pooling - increased UTI frequency
Will resolve with puberty / estrogen, but can also apply estrogen cream x 1 week to help resolve.
Non-specific vulvovaginitis: brown, green discharge, malodorous, burning with urination = urine on irritated
skin
Check for bubble baths, tight fitting clothes, perfumed lotions used in vaginal area, improper toilet
habits (wiping toward vagina)
Foreskins & stuff
adhesions between glans / prepuce lyse within first 3 years of life in 90%, glans exposed
Can see cellular debris (white) under foreskin, not abnormal, no tx needed
Phismosis = inability to retract foreskin. Physiologic in first years of life. After age 3, pathologic
25
Paraphismosis = painful, foreskin gets retracted, trapped behind glans --> edema, venous congestion -->
cant get it back into place!
Hypospadius: Dont circumcise! They might need that tissue for repair.
Cryptorchidism: increased risk of malignancy. A/W inguinal hernias too
Spontaneous descent unlikely after 3 mo of age (operate btwn 6-12mo). Bring it down & fix it in place
(orchiplexy) for easier exams, also reduces risk of torsion (high if floating around in abdomen!). but
doesnt decrease risk of malignancy.
Testicular torsion: Causes majority of acute scrotal pain / swelling in boys > 12 years. Testicle is elevated!
Usually unilateral; can wake child from sleep / cause N/V.
Bell-clapper deformity: mobile testis (posterior attachment to tunica vaginalis missing.
Get surgical consult right away! Dont mess around with delay for doppler (need to get in there & fix it!) get doppler later while waiting for surgical consult to come through. Try to manually detorse (open
book) in ED also while waiting.
Blue dot sign on upper aspect of scrotum with normal cremasteric reflex suggests torsion of appendix
testes (but should use U/S with doppler to r/o testicular torsion).
Hydrocoele: Fluid filled sac in scrotal cavity. Remannt of processus vaginalis. May be communicating with
periotoneal cavity - in which case you need to fix; o/w involute on their own.
Varicocele: common, seen after 10 years of age, bag of worms above non-tender testis
from dilated vv of pampiniform venous plexus (usually on left side) from incompetent valve of
spermatic vein. Can cause reduced sperm counts; may need surgery if infertility problems
diagnosis usually doesnt need Doppler, can feel bag of worms and then reassure / educate unless probs.
Epididymitis: see redness, warmth, scrotal swelling but preserved cremasteric reflex. Pain usually posterior
(over epididymis). Vs torsion, here the testicle is not elevated
Hematology
Anemia
Physiologic anemia: nadir at 6 wks of age in preemie, 2-3 mo in term infant
Microcytic anemia with decreased RBC production: impaired heme or globin production!
thalassemias, iron deficiency, some anemia of chronic disease (all hypochromic too). Occasionally lead
poisoning can do it too
Iron deficiency anemia: low iron, high TIBC, low ferritin
If iron deficient - give oral iron (preferred form)
Anemia of chronic disease / inflammation: low iron, low TIBC, high ferritin
Thalassemias:
Alpha-thal: can be cis or trans (alpha deletions on one - cis - or both - trans - genes). Think SE
Asia, mediterranean, etc.
If homozygous (all four), then Hb Bart (4 gammas, hydrops fetalis) - more common
26
Normocytic anemia with decreased red cell production: bone marrow not making RBC
Transient erythroblastopenia of childhood: acquired pure red cell aplasia, usually preceded by viral
infection, normocytic anemia. 85% after 1 year of age (vs diamond blackfan or physiologic nadir).
Gradual onset of pallor over weeks. Normal peripheral smear except for reticulocytopenia.
Hb is usually at nadir at dx time. Only transfuse if CHF developing
Also on ddx: Parvovirus B19-induced aplastic anemia, drug tox from myelosuppressive agents, or
acute blood loss. anemia of chronic disease can also be normocytic.
Normocytic anemia with increased red cell production: most often hemolytic
Extracorpuscular: extrinsic to red cell
Isoimmune: Ab from one individual destroying RBC of another. ABO/minor Ag incompatibility
Autoimmune: idiopathic, postinfectious (Mycoplasma pneumoniae, EBV), drug-induced (PCN,
quinidine, alpha-methyldopa), or chronic autoimmune dz (SLE) or malinancy (NHL)
The antibodies for either of the above can be...
Warm-reacting IgG: warm weather is Great; fix c but dont activate the whole
way, so removed extravascularly in RES. Id with Direct Coombs
Cold-reacting IgM: MMM - Cold ice cream; intravascular hemolysis since can fix
C the whole way. Especially with mycoplasma, EBV, transfusion rxns
Non-immune: microangiopathic (DIC, TTP / HUS, malignant HTN, etc) or from artificial valves,
AVMs, hypersplenism, toxins (snake venom, copper, arsenic), malaria, burns.
Dx with Hb electrophoresis.
27
Vaso-occlusive crises too; can decrease with hydroxyurea therapy. Acute chest
syndrome, strokes are other serious sequelae
G6PD: X-linked recessive. Mutation in hexose monophosphate shunt pathway; deplete NADPH
and cant regenerate reduced glutathione / protect RBC from oxidative stress. AA / Mediterraneans.
Dx: deficient NADPH formation on G6PD assay, but wait til acute hemolysis is
done (most of deficient cells have been destroyed --> can give false-normal result!)
Tx: avoid drugs that induce hemolysis, transfuse, hydrate during crisis
28
Defect in DNA repair --> too many breaks / recombinations. Increased risk of leukemias
Macrocytic anemia. Can dx with increased chromosomal breakage with exposure to
diepoxybutane (DEB) - damages DNA.
Tx: need RBC transfusion, abx to treat anemia / infections, corticosteroids. BMT is best if possible,
but dont really blast with chemo / radiation doses (cant repair!)
Thrombocytopenia
29
thumbs; can have TOF/ASD; 40% die from bleeding from low platelets in neonatal period.
30
Erythroblastosis fetalis: increased RBC destruction from transplacental maternal Ab against infant RBCs
Presents within 1st 24h; direct Coombs positive
Gilberts syndrome: negative coombs, nL/low Hb, nL/high retic, hyperbilirubinemia, unconjugated hyperbili
Crigler-Najjar: deficiency of UDP glucuronyosyltransferase (severe deficiency = cant conj = high unconj bili)
Conjugated bili: if high, think obstruction of biliary tree (e.g. choledochal cyst).
Could also be biliary atresia or other things that interfere with excretion
Necrotizing enterocolitis: transluminal, mucosal necrosis in premature infants; sporadic usually
Pneumatosis intestinalis on AXR (bacterial gas production in bowel wall) is pathognomonic
5-10% of VLBW babies. See feeding intolerance with bilious aspirates, abd distention, blood / heme+
stool, can end up in shock! Leukocytosis, neutropenia, thrombocytopenia, met acidosis too.
Tx: discontinue feeds & place an NG tube to suction. Give systemic abx & send cx. Get q6h AXR to
monitor for pneumotosis, free air. Give IVF for shock.
Will need surgery if free air seen or necrosis suspected. If not, 14d bowel rest & broad abx.
Immunology
Immunodeficiencies
Chronic
granulomatous dz
Poor superoxide
generation
Leukocyte adhesion
deficiency
Disorder of
leukocyte
chemotaxis,
adherence
SCID
Aut-rec or X-linked
Both humoral &
cellular
immunodec.
DiGeorge
22q11
microdeletion
Decreased T-cell
production
poor Ab response
to capsular
polysaccharides, Tcell dysfunction
Wiskott
Aldrich
31
(combined B&T)
XLA: X-linked
agammaglobulinemia
(Brutons)
Common Variable
immunodeficiency
Primary B-cell
deficiency (all 3
classes of Ab
decreased)
Humoral / B-cell
Selective IgA
deficiency
Humoral
Job syndrome
disorder of
phagocytic
chemotaxis
Ataxiatelangiectasia
Complement
deficiency
C5-C8 (terminal C)
is classic form
N. meningitidis infections!
Also higher risk of rheumatologic disease
Testing:
assess B-cell function by looking at Ab titers against tetanus, diptheria, pneumococcus after vax
assess T-cell function by looking at DTH reaction
lab testing too for titers, cell sorting, etc
Drug eruptions
e.g. amox allergy, also after adeno,
EBV, other viruses
Tx: Stop abx, can give
antihistamines if required
Morbilliform
Type IV / V
hypersensitivity
(not immediate)
Urticarial
Immediate erythema,
vasodilation, raised lesions with
central clearing & serpiginous
border, dermographia, transient
/ evanescent (gone in 30m),
move around
Erythema
multiforme
Type III
hypersensitivity
(antibodies!) Can
also be from HSV
32
SJS/TEN
DRESS
Antibody
independent
Lymphocytic
mediators
Hypersensitivity
Type I: anaphylactic reactions. Often IgE mediated. Basophils, vasoactive substances like histamine, etc.
Type II: Ab-mediated cellular cytotoxicity
Type III: Immune complexes
Type IV: DTH (T-cell mediated). Skin tests (PCN, carabapenems), etc.
Anaphylaxis:
If voice is changing, worry about the airway! Establish the ABCs before everything else!
Then consider subQ epinephrine, diphenhydramine, etc.
Hereditary angioedema: usually inherited C1 esterase inhibitor deficiency.
Allergic rhinitis: usually doesnt present til 5-6 years old (if younger, think infectious rhinitis / sinusitis)
Infectious Disease
STIs
Urethritis:
Gonoccocal urethritis: a drip - dysuria, mucopurulent urethral discharge, oropharynx/skin too
2-5 days incub. Dx with urine PCR or cx on Thayer-Martin agar; can also swab
Treat with IM ceftriaxone x 1 or oral cefixime
Chlamydia urethritis: a drip - dysuria, mucoid discharge; dx by PCR, 5-10 day incub.
Other non-gonoccocal urethritis - ureaplasma, mycoplasma genitalium
Treat with azithromycin x 1 or 1 week of doxy / eryrthro
DDx:candidal balanitis (uncirc boy with whitish overgrowth; rx clotrimazole topical), inflamed
condyloma
Remember PID after GC/chlam - fever, cervical motion tenderness, lower abd pain, discharge,
dysparenuria, irregular menstruation - consider in sexually active woman with adnexal or cervical
tenderness, fever, discharge, irregular periods, elevated ESR/CRP
Treat with ceftriaxone x1(GC) + doxycycline x 14 or azithromycin (chlamydia), can also add
clinda for anaerobes
Fitz-Hugh-Curtis syndrome: ascending pelvic inflammation of liver capsule, diaphragm. Patient
with RLQ and RUQ pain (over gallbladder) - PID + liver problems
33
34
Congenital Infections: TORCH (Toxo, Other - VZV / syphilis, Rubella, Cytomegalovirus, HSV)
Features
Treatment
Comments
CMV
Toxo
pyrimethamine &
sulfadiazine; can use
corticosteroids for ocular,
CNS dz as well.
Rubella
transplacental viral
transmission. Rare (MMR
vaccine). Dont give MMR
vaccine during pregnancy
(very low risk but can get
fetal dz).
HSV
Acyclovir
VZV
Isolate if neonatal
chickenpox (not congenital
varicella syndrome).
Syphilis
Also HIV: remember to get PCR, not relying on ab tests in kids who still have moms IgG!.
GBS:
CA-MRSA treatment: TMP-SMX or Clinda if > 5 cm; I&D and observe if < 5 cm
Lyme disease treatment:
Doxy for less severe manifestations: acute arthritis, erythema migrans, facial palsy, peripheral neuropathy
Ceftriaxone for severe manifestations: meningitis, carditis
35
Food poisoning:
S. aureus: immediate reaction to food
Coxsackie: lesions in the oropharynx
B. cereus: rice
Adenovirus: if respiratory sx along with GI, conjunctivitis
Rotavirus: should have been exposed by 2-3 years old. Can get really high fevers, febrile sz.
Measles: confluent, erythematous, maculopapular, bucket of paint rash (head --> toes) along with
coryza, cough, conjunctivitis, Koplik spots on buccal mucosa.
Complications include PNA, myocarditis, encephalitis, SSPE
Mumps: No rash, but swollen salivary / parotid glands.
Complications: orchitis, pancreatitis, more rarely meningitis, encephalitis
Rubella: sore throat, cough, low-grade fever, then swollen suboccipital & posterior auricular lymph
nodes and diffuse salmon-colored rash; tender swelling of multiple large & small joints
Rash looks like measles but doesnt coalesce
Roseola: From HHV-6. High fever, which then resolves, and maculopapular rash appears.
Can cause febrile seizures in fever stage.
Erythema infectiosum (Fifth disease, from parvo B19). slapped cheeks rash, then reticular rash
spreading out to extremities.
Can cause transient aplastic crisis in kids with Hb problems (e.g. SCD).
Varicella: dew drops on rose petals, not on palms/soles (can have some oral lesions), different stages.
7-21d incubation, most contagious just before rash, isolate until all crusted
Vaccine effective. Can give acyclovir if chronic pulm dz, > 12, on salicylates / steroids
Vs smallpox, which has same-aged lesions
Hand-foot-mouth: from coxsackie A1c.
Incubation 4-6d, 1wk rash, 1-2d prodrome (fever, anorexia, sore throat)
Herpangina - ulcerated vesicles on tongue, posterior pharynx
Diffuse vesicles / pustules / papules on erythematous base on hands, soles and hard palate
Rocky Mountain Spotted Fever: from Rickettsia rickettsii, gram-neg intracellular bacterium. Proliferates
inside endothelial cells --> thrombosis, increased vascular permeability. Highest between April /
September in south Atlantic states; tick-borne illness.
See fever, H/A, rash 7d after tick bite; nonspecific sx then rash on 2-5th day with blanching,
erythemaouts, macular lesions that progress to petichiae, purpura starting on wrists/ankles
and spread proximally to head / trunk over several hours; palms / soles involved too.
Treat with doxycycline in all ages
Lyme: Borrellia burgdorferi; first see erythema migrans 3-30 days after bite.
Early disseminated (days/wks) = multiple erythema migrans, CN palsies, meningitis, carditis
Late (>6wks) - arthritis (usually knee)
Treat with doxycycline if > 8 years old; oral amox or cefuroxime for kids < 8 (cant use doxy)
36
37
Give abx (amox or clinda) & get to dentist within next 48h
EBV: remember that Monospot / heterophile Ab test doesnt work well for young kids < 4 (get specific Ab test)
Respiratory infections
Lung findings:
Staccato cough: with croup or chlamydial PNA
Eosinophilia: think chlamydial
Biphasic stridor (insp & exp) and high fever - think bacterial tracheitis
Often viral URI sx first, then rapid increase in temperature, resp distress with secondary bact. inf.
Kids look toxic! intubate & use IV abx
DDx includes epiglottitis, etc.
Pertussis: Whooping cough in neonates, infants (nonspecific URI in adolescents & adults)
Spread via aersolized droplets from coughing. Highly infective if unimmunized. Immunity from vax wanes.
Course:
7-10 d incubation, then catarral phase (low grade fever, cough, coryza), then
2-6 wk paroxysmal phase (whooping on deep, sudden inspiration during intense coughing
spasm), posttussive emesis, can get facial petechiae, scleral hemorrhage from forceful coughing.
Young infants cant whoop (cant develop enough inspiratory force)
Last, convalescent phase for 2-8 wks
Labs: see significant lymphocytosis, can get NP swab DFA / PCR to detect
Treatment: hospitalize young infants. Can use erythromycin to shorten duration of illness(but only in
catarral phase), if given later, will reduce infectivity. Give erythromycin ppx to household / daycare
38
Croup: kids 6-36 months with sudden onset of hoarse voice, seal-like barking cough, inspiratory stridor
after progdrome of 12-14h fever, rhinorrhea; respiratory distress can develop also.
Paraflu is #1, also RSV / flu
Classically steeple sign on AP neck / chest radiograph (subglottic tapering) but < 50% sensitive
Treat: cool mist, racemic epi nepbs, IV corticosteroids.
Epiglottitis: classically H flu B, now can be strep pneumo. Kids look toxic, drooling, tripoding, thumb sign.
Requires emergent intubation & IV amp-sulbactam or 3rd gen cephalosporin emprically.
Bronchiolitis: viral LRTI infection, usually RSV (also paraflu, hMPV, flu, adeno) between Nov & April
Classically young kids (2-5 months most hospitalized); also preemies, CLD, etc. w/ family members w/ URI
RSV makes a syncitum of the ciliated epithelial cells; inflammation, plugging results.
Have fever, tachypnea, variable resp distress, often with wheezing, ronchi, crakles, etc.
CXR: hyperinflated, peribronchial thickening (cuffing), increased interstit. markings
Lasts 5-10 days, then recover over 1-2 weeks.
Treat: supportive, mostly outpatient. Corticosteroids, beta-agonists not helpful (but if not sure if first-time
asthma, often may try in ED for a course). Use palivizumab (monoclonal RSV Ab) for passive ppx in kids at
risk (<2 yr old ex preemies, kids with CLD needing oxygen), etc.
PNA (LRTI) organisms
First few days of life
> 5 yrs
ICU / intubated
Chronic lung dz
Other clues:
39
Treament basics:
Outpatient: usually high dose amox or augmentin.
Can use azithromycin if walking PNA (mycoplasma, c. pneumo) suspected
Give azithromycin for C. trachomatis PNA in infants
Hospitalized: use IV abx
< 28 days: amp & gent to cover GBS, etc. These kids get hospitalized (r/o sepsis)
1 mo-3mo: ceftriaxone +/- macrolide
4 mo-4yrs: ceftriaxone + clinda (s. pneumo, ?MRSA)
5-15yrs: macrolide +/- ceftriaxone +/- clinda (atypicals, s. pneumo, ?mrsa)
Amp/sulbactam, clinda, ceftriaxone, azithromycin, vanc may be needed.
S. aureus PNA can cause tension PTX (via toxin --> rupture of alveoli).
Mostly associated with empyema though - which you cant drain (rx with vanc!)
Can also cause pleural effusion
Pneumococcal PNA: often with sudden onset of fever, cough, chest pain
Can fail outpatient therapy if amox (need high dose PCN, cefuroxime, amox/clav, or even vanc!)
Sepsis:
Early-onset (1st 6 days): think birth canal (GBS, H. flu, E. coli, Listeria)
Treat with amp/gent
Late-onset (7d-90d): think environment (coag-neg staph, S. aureus, E. coli, Klebsiella, Pseudomonas,
Enterobacter, Candida, GBS, Serratia, Acinetobacter, anaerobes)
Treat with vanc / 2nd or 3rd gen cephalosporin (vanc/cef, etc)
GBS is #1 cause sepsis in 1st 3 months; 80% are early onset (septicemia, PNA, meningitis) from vert trans
Often see resp signs first: apnea, grunting, tachypnea, cyanosis in 80%, hypotension in 20%
50% develop seizures within 24h.
Associated with prolonged rupture of membranes, apnea, hypotension in 1st 24h life, APGAR <
5 @ 1 min, rapidly progressing pulmonary disease. Early GBS: increased risk with ROM > 18h,
chorioamnitis, intrapartum T > 38C, previous GBS+ infant, young mother < 20, LBW or
prematurity
Prevent with screening @ 35-37 wks gestation. Use intrapartum abx if needed.
Listeria: gram + rod, rare infections in USA, from soft cheeses milk, undercooked chicken, hot dogs, etc.
Acquried transplacentally or by aspiration/ingestion at birth
Brown-stained amniotic fluid, febrile mom, erythematous pustular rash on baby, pallor, poor
feeding, tachypnea, cyanosis, MONOCYTOSIS on CBC, 30% mortality for early onset dz
Meningitis
Organisms by age of patient:
< 1 mo
Seeding from mom: GBS, E. coli, GNRs, HSV, Listeria. Also strep. pneumo
1-2 mo
40
2mo-6y
>6
CSF in meningitis
WBC
PMNs
Protein
Glucose
Bacterial
> 1,000
> 75%
Very high
Very low
Viral
< 500
Normal / high
Normal
Lyme
< 100
Normal / high
Normal
Gastroenteritis (bacterial)
note: enteritis = small bowel, colitis = large bowel
Salmonella: aerobic GNR, motile, no lactose fermenting, more common in warmer months
gastroenteritis, meningitis, osteomyelitis, bacteremia = non-typhoidal presentation
can have neuro findings too (h/a, confusion, hallucinations) but meningitis
infrequent
peripheral white count often normal but with big time left shift (bands > polys)
Can give abx for Shigella (self-limited but decreases disease course, organism shedding)
Camyplobacter
41
E. coli (EHEC: can cause bloody diarrhea but often with no fever; EIEC = no blood)
Culture on MacConkey sorbitol to diagnose O157:H7
Yersinia a/w reactive arthritis, erythema nodosum. Can localize to RLQ (pseudoappendicitis)
Dx: Get stool cx, fecal leukocytes (just indicates inflammation)
HUS: in E. coli O157:H7, #1 cause acute renal failure in kids - usually younger than 4 yrs
1-2 weeks after diarrhea: sudden onset of pallor, irritability, decreased UOP,
can have petichiae & edema, even stroke sometimes.
Tx: supportive, fluid / electrolytes. REGULAR DIET > BRAT or clears (counter-intuitive)
Gastroenteritis (Non-bacterial)
Rotavirus gastroenteritis: major cause in infants / toddlers in Western world. Peaks Jan - April
Profuse diarrhea, vomiting, low-grade fever; can lead to electrolyte disturbances. Supportive care.
Giardiasis: most common intestinal parasite in USA. Related to water quality
Frequent, foul-smelling, watery stools with blood / mucus, abd pain, N/V, anorexia, flatulence too
Often resolves 5-7 days. Give metronidazole.
Common
name
Parasite
name(s)
Source
Signs/sx
Dx
Tx
Fecal-oral
Most asx.
Hemoptysis, pulm
infiltrates, abd pain,
distension,
obstruction
Albendazole,
mebendazole, pyrantel
pamoate, piperazine to
clear obstruction
Ovoid eggs in
stool
Mebendazole,
albendazole, pyrantel
pamoate, also iron
supplement
Ascariasis
Ascaris
lumbricoides
Hookworms
Ancyclostoma
duodenale,
Necator
americanis
Penetrate skin
Pinworms
Enterobius
vermicularis
Ingestion of egg
Nocturnal perianal
itching
Pyrantel pamoate,
mebendazole,
albendazole
Strongyloides
stercoralis
Larvae
penetrate skin,
to lungs, to
intestines, can
go back & forth
Larvae in feces,
or string test to
sample duodenal
fluid
Ivermectin,
thiabendazole
Egg ingestion
(soil
contaminated
with dog/cat
feces) - kid
Strongyloids
Visceral /
ocular larva
migrans
Toxocara spp
Clinical pres,
serologic testing,
microscopy of
tissue
42
eating dirt!
Whipworms
Trichinellosis
Trichuris
trichiuria
Trichinella
spiralis
Egg ingestion
Proctitis, bloody
diarrhea, abd pain,
rectal prolapse
Lemon-shaped
eggs in stool
Mebendazole /
albendazole
uncooked pork,
other raw meat
Eosinophilia on
labs.
UTIs
Brain abscess: consider especially in kids with right to left shunts (eg TetFal).
fever, H/A, lethargic, nystagmus, ataxia, etc - get a CT/MRI
43
Acute Otitis Media: Can be viral (RSV, paraflu, flu) or bacterial (S. pneumo, nontypable H. flu, M. cat)
Bulging TM, erythematous, opaque, poor light reflex, decreased mobility, acute hx sx
DDx:
OME: fluid (poor mobility of TM) but no evidence of inflammation (gray/clear TM, no sx)
Myringitis: inflammation of TM but normal mobility, usually with viral URI
Otitis externa: ear pain, worsened with manipulatino, canal hurts.
Mastoiditis: anteriorly displaced earlobe, high fever, tender. Give IV abx & may need surg
Tx:
Abx if younger than 24 months, at risk for poor follow up, ill appearing, immunodeficient, or
with recurrent / severe / perfd AOM, give high dose amox. If no improvement in 48h, augmentin
If older than 24 mo and disease not too severe, decide abx vs pain control & watchful waiting
Neonatology
APGAR:
Score
Appearance
Blue, pale
Acrocyanosis
Completely pink
Pulse
Absent
<100 bpm
>100 bpm
Grimace
(reflex irritability to nose suction)
No response
Grimace
Cough / sneeze
Activity
Limp
Active motion
Respiratory effort
Absent, irregular
Slow, crying
Good
44
Transient tachypnea of the newborn: otherwise healthy full-term baby with tachypnea at ~1h of life
From incomplete evaculation of fetal lung fluid in full term infants
More common with C-section, disappears in 24-48h of life, can give supplemental oxygen PRN
Perihilar streaking & fluid in fissures on CXR.
Meconium aspiration syndrome: aspiration during delivery --> respiratory distress
hyperinflation + patchy infiltrate on CXR
Can see air trapping which can lead to PTX, especially if you use PEEP
endotracheal intubation + direct suction em out before thorax delivered (before 1st breath)
May need some iNO for pulmonary HTN
RDS: preemies, surfactant deficiency, give em surfactant. Lungs mature starting at 32 wks.
ground glass reticulonodular pattern with air bronchograms, decreased aeration on CXR
Lecithin:sphingomyelin ratio > 2 is predictive of good lung development
Maternal steroid administration can speed up production of surfactant; also PROM, stress,
maternal narcotic addiction, preeclampsia, hyperthyroidism, theophyllin
Maternal diabetes (fetal hyperglycemia, hyperinsulinemia) can slow down surfactant production
Give surfactant, then decrease FiO2 to reduce O2 toxicity (<60% FiO2 is better). May need NC / CPAP /vent
Apnea of prematurity: apnea > 20 sec (or with cyanosis / sx or brady < 100 bpm)
Usually mixed central / obstructive.\ picture.
DDx vs periodic breathing (normal in neonates, infants) - pauses of 5-10s with rapid breathing aftewards
A/w bradycardia (<80bpm in newborn). Needs BVM if hypotonic, pallor. Treat by maintaining skin
temp, supplemental O2, tactile stimulation, caffeine to sitimulate respiratory center. Monitor for ~7d
without A/B episode; can send home with apnea monitor for period of time as well.
CDH: herniation of abdominal contents, usually L side, leads to pulmonary hypoplasia.
Mostly left posterolateral diaphragm defect (Bochdalek hernia)
See immediate respiratory distress, scaphoid abdomen, cyanosis, heart sounds displaced to right side;
diminished breath sounds on same side
Dont bag & mask (bowel gas accumulates in chest, get worse) - INTUBATE!
Dont try to put a needle in to aspirate fluid - you could puncture the bowel!
DDx includes congenital cystic adenomatoid malformation: embryonic disruption of broncihole
development, big cystic mass IDd on prenatal ultrasound, causes pulmonary hypoplasia but stomach &
intestines in the right place
Omphalocoele: viscera herniate @ umbilicus into sac covered by peritoneum, amniotic membrane.
A/w beckwith wiedemann. Polyhydramnios in utero.
Management: Do C-section to prevent rupture of sac. If small, repair. If large, cover with prosthetic
material, reduce, & repair later (not a surgical emergency if sac intact).
Gastroschisis: no sac, herniation of intestine through abdominal wall lateral to umbilicus.
Polyhydramnios in utero. Management: surgical emergency (put Silastic silo over exposed bowel; reduce
over days)
45
IVH (intraventricular hemorrhage) - especially in VLBW babies, first 3 days of life, many asx.
Dx with anterior fontanelle U/S (all VLBW should be screened with one)
Manage by maintaining cerebral perfusion but controlling intracerebral pressure. Follow with U/S.
HIE (hypoxic ischemic encephalopathy) - big cause of neonatal morbidity / mortality. Often 2/2 intrapartum event
#1 cause of neonatal seizures; often present with severe perinatal deprssion / asphyxia needing resusc.
#1 predictor of long-term morbidity = neuro exam @ 1 week of life (good if able to take full oral feeds,
normal exam - chances for full recovery very good).
Muscular torticollis: neck twisted to one side in neonate s/p difficult delivery (big/breech), palp. SCM mass
Get radiographs to rule out cervical spine injury before doing any stretching!
Treat initially with passive SCM streching. Can lead to facial asymmetry if not taken care of.
DDx:
Klippel-Feil syndrome: congenital fusion of portions of cervical vertebrae, restricted neck
movement, short neck, low hairline. A/w Sprengel defomity (congenital elevation of scapula),
structural urinary tract abnormalities
Sandifer syndrome. GERD, hiatal hernia, and head posturing (can look seizure like). Get
esophageal pH probe to look for reflux!
Dystonic reaction to meds (metoclopramide or antipsychotics) - tx with diphenhydramine
Also retropharyngeal abscess, tumors, dystonia, Wilson dz, syringomyelia, other stuff
Apt test: helps distinguish ingested maternal blood from babys blood in neonate with bloody stool
(fetal hemoglobin is alkali resistant)
Subgaleal hematoma: Bleed into subaponeurotic space; crosses suture lines, expands rapidly
can lose big blood volume / get hemodynamically compromised - take to NICU!
Cephalohematoma: Bleed btwn skull and periosteum (rupture of bridging vessels); does not cross suture lines
Especially after prolonged delivery; usually doesnt cause compromise, resolves / resorbs
can cause indirect hyperbilirubinemia
Caput succedaneum: Serosanguinous, between scalp & periosteum, crosses suture lines
associated with pressure of head against cervix (vaginal deliveries)
Soft, spongy scalp; observe only! Goes away on its own.
Propranolol is bad for baby during delivery if mom takes it - baby cant respond to bradycardia; a/w brady
episodes, also apnea / failure to develop tachycardia during an asphyxiation in delivery
46
Labs at birth:
SGA infants can have decreased uteroplacental blood flow, placental infarction - results in fetal
nutritional deprivation, intermittent fetal hypoxemia --> decrease in glycogen storage &
polycythemia
Glc: 30-40 is normal in full-term infant in 1st postnatal day
Ca: decline during first 2-3 postnatal days; only abnormally low below 7.5-8 mg/dL
HyperMg: common when mom got MgSO4; asx or floppiness
Hct > 65% = polycythemia; get increased blood viscosity
47
Postmaturity: > 42wks. Dry, cracked, peeling skin, malnourished appearance common at birth
Can see meconium aspiration / resp depression, PPHN, hypoglycemia, hypoCa, polycythemia
Polyhydramnios if fetus cant swallow (abdominal wall defects, diabetes, anencephaly, myelomeningocoele,
esophageal / duodenal atresia, diaphragmatic hernia, cleft palate)
Oligohydramnios if fetus cant excrete fluid.
Potter sequence if bilateral renal agenesis (clubbed feet, compressed facies, low-set ears, scaphoid
abdomen, diminished chest wall size). Higher risk of resp failure than renal insufficiency.
Neonatal hypoglycemia: may have transient blood glucose in 30s and be OK; definition is <40.
But persistent BG < 60 - look for pathology (inborn errors of metabolism, IDM, etc)
Fetal exposures
Fetal alcohol syndrome:
small for gestational age, microcephaly, small palpebral fissures, short nose, smooth philtrum, thin
upper lip, ptosis, micropthalmia, cleft lip/palate, CNS abnormalities (average IQ = 67)
Dilantin: midface hypoplasia, low nasal bridge, hypertelorism = big gap between eyes, growth retardation,
accentuated Cupids bow of upper lip, cardiovascular anomalies, etc.
Infants of Diabetic Mothers (IDM)
Large babies (macrosmia), increased fetal O2 requirements --> fetal hyperinsulinemia
May have hypoglycemia at birth - immediate feeding if 25-40, IV glucose if <25
Polycythemia --> thrombosis (partial exchange transfn if hct > 65), hypoCa, hyperBili too.
Consider renal vein thrombosis in IDM with abdominal mass (hydronephrosis) as neonate!
Rarely, can see caudal regression syndrome (hypoplasia of sacrum, lower extremities).
Also a/w congenital heart dz, NTD
Neurology
Head Trauma
Subdural hematoma: more common in kids < 1; rupture of bridging veins; blood between dura & arachnoid
More morbidity; less mortality than epidural (brain parenchyma involved
Epidural hematoma: more common in older kids; skull fx + middle meningeal aa lac, blood btwn dura & skull
More mortality; less morbidity than subdural (under pressure). Classically with lucid interval
Basilar skull fx: periorbital (raccoon eyes) or postauricular (Battles sign) bruising,
Can also see hemotympanum, CSF rhinorrhea / otorrhea.
If GCS is less than 8, then you have to intubate! (different GCS for kids)
Neural tube defects: no folic acid, valproic acid / carbamazepine exposure contribute. elevated AFP in mom
Spina bifida: NTD with incomplete fusion of vertebral arches
Myelomeningocoele: contains neural & meningeal tissues. Leads to hydrocephalus (get VP shunt)
48
Hydrocephalus: bulging fontanelle; poor feeding, irritable / lethargic, downward deviation of eyes (setting
sun sign), spasticity, etc. can indicate increased ICP.
Cushing triad (hypertension, bradycardia, slow / irreg respirations) is a late finding.
Usually get VP shunt (or 3rd ventriculostomy if acqueductal obstruction) to open floor of 3rd vent.
Shunt infections: most often S. epidermidis.
Pseudotumor cerebri: benign but important cause of H/A, often overweight females
?from impaired CSF resorption. See papilledema but normal CT
LP: increased opening pressure; serial LPs resolve headache
Can also use acetazolamide / furosemide if protracted cases.
CNS tumors:
Infratentorial:
Tumor
Age @
onset
Manifestations
5 yr
surv
Comments
Cerebellar
Astrocytoma
5-8
90%
Medulloblastoma
3-5
50%
Ependymoma
2-6
Obstructive hydrocephalus;
rarely seeds CSF
50%
Brainstem ( e.g.
pontine) glioma
5-8
Supratentorial
Tumor
Age @
onset
Manifestations
5 yr
surv
Comments
Cerebral
astrocytoma
5-10
10-50%
Craniopharyngioma
7-12
Bitemporal hemianopsia,
endocrine abnormalities
70-90%
Optic glioma
<2
50-90%
49
75%
Epilepsy Syndromes
Epilepsy
Syndrome
Onset
Types
Other findings
EEG
Treatment
LennoxGastaut
Childhood (1-8y)
Tons of different
kinds
Mental
retardation, bad
prognosis
VPA,
lamotrigine,
felbamate
Benign
rolandic
epilepsy
Childhood (5-10y)
Simple partial
(mouth, face),
GTC
Nocturnal
preponderance,
usually remits
Centrotemporal
spikes
Carbamazepine
or no treatment
Absence
epilepsy
Childhood (5-10y)
& Juvenile (7-16y)
Absence, GTC
Hypervent =
trigger
3 Hz spike &
wave
Ethosuxamide,
VPA
Juvenile
myoclonic
epilepsy
Early morning
preponderance
4-6 Hz polyspike
& wave
VPA, lamotrigine
Simple febrile seizures: between 6 mo and 6 yrs, elevated temperature, generalized, short (<15m), selflimited seizure without focal findings; short postictal state, often with prior hx or FHx
Only need to get EEG if complex (long, focal signs, etc)
Classic side effects of AEDs
Carbamazepine (partial, GTC): leukopenia, thrombocytopenia, aplastic anemia
Ethosuxamide (absence): rash, rarely aplastic anemia
Phenobarb 9GTC or partial): nystagmus, sedation or activation, ataxia
Phenytoin (GTC, partial): nystagmus, rash, drug-induced lupus, gingival hyperplasia, polyneuropathy
VPA (GTC, absence, partial): hepatotoxicity, N/V, neural tube defects
Gabapentin (partial): dizziness, somnolence, ataxia, fatigue
Lamotrigine (GTC, partial, absence, lennox-gaustault): rash including SJS, also N/V, rash, double vision
Topiramate (GTC, partial, absence, L-G): confusion, headache, ataxia
Status epilepticus: seizure > 30m or 2+ sz without full recovery of consciousness (in reality, treat > 5m sz)
1. ABCs, get IV access
2. Benzos (lorazepam 0.1 mg/kg or diazepam)
3. + phenytoin 20 mg/kg
4. + phenobarb 20 mg / kg
5. + anesthesia (midazolam, pentobarbital, propofol) to suppress brain electrical activity
50
Acute infantile hemiplegia: acute onset of a hemisyndrome with eyes looking away from paralyzed side
Thromboembolic occlusion of middle cerebral artery or major branches (basically stroke / TIA)
Breath holding spells: can be pallid or cyanotic; sudden pain / upset --> cry --> color change --> child holding
breath in exhalation; can lose conciousness briefly and can have stiffening / transient clonic movements.
Cerebral palsy
Etiology: problably most from antenatal insults (less common perinatal, pregnancy, delivery)
have sz, 60% have intellectual disability. Classically see scissoring of legs
Failure to reach milestones: stepping response > 3 mo, Moro > 6 mo, asymmetrical tonic neck > 6 mo
Can calculate motor quotient (motor age / actual age)
Diplegia = bilateral legs; quadraplegia = all legs, hemiplegia = one side, UE > LE.
Muscular Dystrophy:
Duchenne most common, X-linked.
Frequent falling, difficulty climbing stairs, hop waddle, proximal mm weakness (Gower sign),
pseudohypertrophy, cardiomyopathy. Respiratory failure is #1 cause of death.
Becker: like DMD but less severe (think older kid, e.g. 12, with new weakness, also FHx)
Myotonic muscular dystrophy is #2: autosomal dominant.
Inverted V-shaped upper lip, thin cheeks, wasting of temporalis muscles, narrow head, high,
arched palate. Distal muscle weakness leads to trouble walking - also speech difficulties, GI
problems, endicrine problems, immune deficiencies, cataracts, intellectual impairment, cardiac
problems
SERUM CK (elevated), DNA analysis of peripheral blood to diagnose
Genetic Diseases
Disease
Huntingtons
Disease
Werdnig-Hoffman
Friedrichs ataxia
Inheritance
Genes
Presentation
Pathology
Aut-dom
Chromosome 4
(CAG repeats in
huntingtin)
Chorea, depression /
behavioral changes,
dementia
Atrophy of caudate (
GABAergic neurons)
Aut-rec
Degeneration of
anterior horns (LMNs
only)
Aut-rec
Dorsal columns /
lateral CST /
spinocerebellar /
dorsal root ganglia
(hyporeflexic)
Episodic Ataxia
Spinocerebellar
ataxia (SCA)
Auto-dom
Progressive gait /
dysarthria in early adult
51
Aut-rec
Charcot-MarieTooth (Hereditary
motor & sensory
neuropathy)
Lysosomal storage
(arylsulfatase A
deficiency)
progresive ataxia,
weakness, peripheral
neuropathy; macular
lesions (gray)
Defective
production of
myelin sheath
proteins
Adolescence; progressive,
symmetric distal muscular
atrophy (legs / feet
hands), hammer toes /
pes cavus
Demyelination (
sulfatides --> myelin
sheath)
Spontaneous, chr
3
Tuberous sclerosis
Aut-dom with
variable
penetrance
NF type 1 (von
Recklinghausens dz)
Aut-dom, chr 17
NF type 2
Chr 22
Von-Hippel-Lindau dz
Aut-dom, chr 3
DDx of Sturge-Weber includes PHACE syndrome - posterior fossa malformations, hemangiomas, arterial
anomalies, coarc of aorta, eye abnormalities
Post-infectious weakness
Disease
Etiology
Features
ADEM
Post-infective (chickenpox,
measles) or post-vaccine
(rabies, smallpox)
Post-campylobacter or
herpesvirus (CMV / EBV)
GBS: AIDP
52
CIDP
Miller-Fischer
Hearing loss:
Usually dx by severe language delay (e.g. no babbling by 9 months = get audiologic evaluation)
Normal (0-5 db threshold), mild (25-30: lose some speech sounds), moderate (30-50: most speech
indiscernible), severe, profound (>70db)
Oncology
Hematologic malignancies
Leukemias in general:
Sx: lethargy, malaise, anorexia days / wks before dx; bone pain / arthralgias (leukemia in marrow
cavity), pallor (normocrhomic, normocytic anemia with low retic count), ecchymoses / petechiae
(thrombocytopenia), hepatosplenomegaly / cervical LAD at Dx.
53
Get CBC with diff & blood smear, flow cytometry to type. Bone marrow bx is gold standard.
Acute leukemias: 97% of all childhood leukemias. rapidly fatal if untreated, but curable.
Acute lymphoblastic leukemia (ALL):
More common (75%), increased risk with ataxia-telangiectasia, XLA, SCID, L3 ALL a/w EBV.
Hyperleukocytosis (WBC > 200,000) = vascular stasis (esp if > 300k) - bad! Mental status
changes, H/A, stroke, hypoxemia, etc. Can use hyperhydration, leukophoresis to tx
Treatment of ALL: induction of remission,consolidation to kill more cells (incl intrathecal
methotrexate), interim maintenence (less intense), delayed intesification (another intense
round), maintenence (ongoing, to maintain remission)
Lymphomas
Non-Hodgkin:
T-cell: a/w mediastinal mass, can have SVC syndrome as a result
lymphoblastic (pre-B), anaplastic types
B-cell: often involves bone, isolated LNs, skin
lymphoblastic (pre-B)
Burkitt lymphoma: rapid growth, can have tumor lysis syndrome even before chemo!
C-myc translocation
Hodgkin: childhood, young adult, older adult form; biomodal epidemiology (15-30, then >50)
Painless, rubbery cervical lymphadenopathy in 80%, also have mediastinal LAD
B symptoms: unexplained fever, drenching night sweats, unintentional wt loss (> 10%/6mo)
Diagnosis:
Get a chest radiograph to look for mediastinal mass; will guide how bx done (anesthesia? need to
protect airway if impinged upon?)
Biopsy next: look for Reed-sternberg cells. Fewer is better for prognosis (lymphocyte
54
Tx: varies: enucleation, chemo, local therapy (laser/cryo), radiation. depends on extent of disease.
If heriditary form, higher risk for soft tissue sarcomas
55
Bone Tumors
Tumor
Patient / presentation
Location
Dx
Comments
Ewing
Sarcoma
Osteosarcoma
Medullary cavity /
periosteum, at
metaphysis of bones
with big growth velocity
(distal femur, prox tibia,
prox humerus)
56
Ophthalmology
Strabismus: misalignment of eyes. Transient strabismus OK until 4 mo age.
4% kids have strabismus, more common in CP, Downs, hydrocephalus, brain tumors
Esotropia = inwards, exo=outward, also upward/downward. Dx with light reflex, cover-uncover tests
Amblyopia, reduced steropsis (depth perception) can result.
Tx: realign (medical, surgical intervention), earlier is better for chances of normal acuity/alignment
Amblyopia: reduced vision in otherwise normal eye (2-5% kids, most susceptible birth - 7yrs. Ealier = worse)
Strabismic (33%): suppress retinal images from misaligned eye, if child younger than 4-6 yrs
Anisometric (33%): unequal refractive erros in eye; blurred retinal image
Rest are mixed mechanism. All can lead to permanent vision loss.
Tx: correct refractive errors with glasses, fix cataracts, etc. Restore alignment if strabismic. Then occlude
better-seeing eye to force visual development in affected eye. Tx > 8 y/o is unlikely to be successful
Leukocoria: DDx:
retinoblastoma (life threatening; see onc section)
cataracts (most common cause, 1:250 newborns, congenital or acquired - infection, etc. Tx with surgical
removal; remove before 2-3 mo age to prevent irreversible amblyopia)
retinopathy of prematurity (retinal vascular disease, O2 exposure, VLBW preemies. Tx: many regress
spontaneously; lasar ablation of retina or cryotherapy can reduce progression to retinal detachment)
Also congenital glaucoma, oxular toxocariasis (parasitic, often acquired)
Nasolacrimal duct obstruction: causes chronic overflow tearing in absence of conjunctivitis in 25% neonates.
Failure of distal membranous end of nasolacrimal duct to open.
If mucopurulent discharge, tenderness of lower lib, think dacrocystitis (superimposed infection); use
warm compress, nasolacrimal massage, occasionally 1st gen cephalosporins
Resolves spontanously by 1 y/o in 96%. Refer if sx persist. At 12-15mo, probe nasolacrimal duct.
Infantile glaucoma: classic triad of tearing, photophobia, blepharospasm. May see one eye enlarged!
Can be isolated or a/w congenital rubella, NF-1, sterge weber, marfan, others
Opthalmia neonatorum: conjunctivitis in 1st month of life.
Ocular discharge in neonate = evaluate (tears absent in first few weeks of life)
Presentation: eyelid edemia, conjunctival hyperemia, ocular discharge.
DDx of most common causes below; also HSV, S. aureus, H. flu, pseudomonas (after 1st week of life). Tx:
refer if gonococcus, HSV, P. aeurg, or if signs worsem / sx perist > 3 days. Also Tx parents / partners if STD!
Prophylaxis: Erythromycin drops (C. trach, N. gonorrhea).
Onset
Features
Complications
Dx
Treatment
Chemical
24h
Self-limited
Exclude other
causes
None
N. gonnor.
2-4d
bilat, prurulent
discharge, eyelid edema,
chemosis
sepsis, meningitis,
arthritis, corneal
ulceration, blindness
conjunctival cx
(chocolate or
Thayer-Martin)
Topical
erythromycin,
IV cefotaxime,
57
treat parents
C. trach
4-10d
unilat or bilat
mucopurulent
discharge, conjunictival
hyperemia
corneal scarring,
pneumonia
conjunictival
Chlamydial cx
Oral + topical
erythromycin*,
treat parents
* remember that systemic erythromycin in neonatal period has been linked to hypertrophic pyloric stenosis
Infectious Conjunctivitis (Pink Eye)
DDx: All have diffuse injection, normal vision
Viral: pain mild, clear mild/copious discharge, can crust, usually no itching, normal vision.
adenovirus, ECHOvirus, coxsackievirus are common etiologies
Bacterial: mild/moderate pain, mild/copoius mucopurulent discharge with definite crusting, no
itching. H. flu, S. pneumo, N. gonorrhoeae can be culprits
Allergic: no pain, clear discharge with mild/moderate discharge, no crusting but with itching.
Seasonal pollen or other allergens can be etiology
Often treated with abx drops / ointment x 5-7d (polymiyxin-bacitracin, TMP-polymyxin B, gentamicin,
ofloxacin); can culture of refractory. Self-limited diseases, but abx limit infectivity, decrease duration by 2
days. Some exceptions:
If N. gonorrhoae - need parenteral ceftriaxone.
If H. flu and ipsilateral otitis media, treat for otitis.
Do NOT give abx drops with steroids if HSV-1 is cause (more severe disease, visual impairment).
Ddx includes corneal abrasions (red, painful, tearing; sensitive to light, use slit lamp + fluorescine to see,
treat with eye patching +- topical abx, should heal within 24h)
Styes: Chalazion vs Hordeolum
Chalazion: sterile lipogranuloma of meibomian gland in tarsal plate. Firm but nontender. Excision
sometimes required; can be chronic / recurrent. Lid hygeine can help.
Hordeolum: infection of meibomain gland (internal) or sebacoues gland around eyelash follicle (external).
S. aureus usually. Local, tender swelling --> rupture to outside. Tx with warm compresses; I&D or
systemic antibiotics if cellulitis develops. little value for ophthalmic abx
Periorbital (preseptal) cellulitis:
Preseptal: no limitation of eye movements. Usually from skin breaks (S. aureus, group A strep),
hematogenous (S. pneumo, H. flu), inect bites, or sinus infection (S. pneumo, H. flu, M. cat).
Dx: warm, tender, indurated skin without eye pain around eye. +/- fever (if hematogenous) & signs of
etiologies above. Get LP if suspicious for meningitis.
Tx: IV abx as soon as possible. If after break in skin, PCNase-resistent PCN or 1st gen cephalosporin;
may need Vanc if concerned for MRSA. Otherwise use cefuroxime or 3rd gen cephalosporin if concerned
for meningitis. Switch to PO to complete 10 day course when symptoms go away.
Orbital cellulitis: this is an EMERGENCY
Infection behind orbital septum. Severe pain with eye movement, proptosis, vision changes, decr. EOM
Get CT scan for dx, look for spread of infection. May have orbital abscesses (drain)
Organisms: S. aureus, S. pyogenes, S. pneumo, H. flu, M. cat, anaerobes in upper resp tract
Start empiric IV abx (cefuroxime, +clinda if concern for anaerobes, or amp-sulbactam) x 3 wk course
58
Orthopedics
Developmental dysplasia of the hip: dislocation - acetabulum doesnt develop as cup - head of femur out farther
More common in breech deliveries, family hx, females, 1stborn children. A/w clubfoot, congenital
torticollus, metatarsus adductus, infantile scoliosis
Dx: Barlow, Ortolani. Older infants: Galeazzi sign (knees bent, hips flex, look for shortened limb).
Radiographs dont help until 4-6 mo (ossification); U/S is better from birth - 4 mo
Tx: ortho referral. Most stabilize by 2 wks. Pavlik harness (abducted, flexed hip) or body casting if older
Foot deformities:
Flexible = more benign (if you can mold it with hand, minimal intervention)
Metatarsus adductus (isolated in-toing of forefoot) - benign, from intrauterine positioning, ankle joint
range is unrestricted (restricted in clubfoot). If inflexible, may need serial bracing / casting @ 6-12m
Talipes equinovarus (clubfoot) - rare, debilitating. medial rotation of tibia, fixed plantar flexion at
ankle, inversion of heel, metatarsus adductus. cant dosiflex; foot more deformed; limp + ulceration +
calluses. Need early intervention before walking! (serial casting, surgical repair if failed)
Causes of limp
Trauma is #1 at any age. Otherwise, by age (yrs)
1-3: infection, inflammation, paralytic syndromes
3-10: L-C-P, toxic synovitis, JIA
Pubertal: SCFE
Legg-Calve-Perthes: avascular necrosis of femoral head, etiology unknown. Mostly males / younger
kids (4-8 y/o) with painless, mildly painful limp developing insidiously, often referred to knee / thigh.
Limited ROM on abduction, flexion, internal rotation.
Radiographs: initially normal, then epiphyseal radiolucency.
Treat by contain femoral head in acetabulum, usually ischemic bone is resorbed then reossification
over 2-5 yrs. Often just observed if younger; brace/cast/surg if older. Incr. arthritis later in life
SCFE: prox femoral growth prate separates; femur head slips off & rotates into inferior/posterior position
Think overweight pubertal kids (esp males). 25% become bilateral. No relation to trauma.
Presentation: limp, pain (hip/groin or referred to knee). Limb shortening, limited internal
rotation and flexion on exam. Get radiographs in frog-leg lateral position to see displacement.
Tx: pin fixation acutely; chronic may require osteotomy
Osgood-Schlatter: pain, swelling, tenderness over tibial tuberosity.
From repetitive stress to distal insertion of patellar tendon on proximal tibia
Think adolescent growth spurt (10-15y)
Pain worse with running, jumping, kneeling, squatting but better with rest.
Tx with activity modification, stretching before, rest/ice after activity; casting for up to 6 wks if severe; low
long-term morbidity
Blount disease: bowlegs (genu varum) that progress & worsen, can be unilateral
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Fractures
Basic features: ligaments / tendons > bones for strength in kids, so more breaks than sprains / tears.
Hallmark is severe point tenderness over bone
5-10% fx are invisible on initial radiographs (2-3 wks later)
Types of fx
Epiphyseal fractures classified by Salter-Harris classification. S-H III/IV have highest risk growth disrup
Bow fracture (e.g. greenstick) if bowing / bending without fracture after trauma
Stress fractures: can be invisible on initial films; repetitive forces (e.g. athletes)
Pathologic fx: if 2/2 OI, malignancy, lnog-term steroids, infection, endocrine disorders.
Osteogenesis imperfecta: fragile, brittle bones.
Family of kinds, both aut-dom & aut-rec, all with abnormal type I collagen, with variable severity
Blue sclerae and multiple fx, which can lead to short stature.
Management: standard fx care, pneumatic bracing, avoiding even minor trauma. Some pts: pamidronate
(inhibits osteoclast resorption)
Subluxation of radial head: nursemaids elbow.
Common, with strong jerking of childs hand when held by parent. Child comes in holding arm close to
body, elbow flexed, forearm pronated, pain on elbow motion. Radiographs normal.
Tx: extend elbow, supinate hand; hear click as annular ligament pops into place; kid better in minutes
Typical injuries in young athletes
Swimming
Football
Baseketball
Running
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Ballet
Wrestling
Skiing
Skiers thumb: abduction & hyperextension of thumb --> sprain ulnar collateral ligament
during fall is #1
Hockey
Contusions, lacerations, pretty much any kind of injury. Loss of teeth too.
Osteomyelitis:
in femur and tibia in kids; often in metaphysis (blood stasis, few phagocytes). 50% neonates with osteo
have septic joint as well.
Incidence bimodal: neonatal M=F, older kids (9-11) M>F
S. aureus is #1; also GBS/E. coli in neonates, Salmonella in SCD, pseudomonas if nail thru sneakers
Hx: fever, refusal to move limb; can have localized bone pain if older.
PE: Soft-tissue swelling, limited ROM, point-tenderness; can see sinus tracts sometimes draining pus
Labs: WBC can be normal; 50-60% blood cx positive. Should aspirate bone before abx started to get
organism, susceptibility, etc. Rads normal, then pereostial elevation / radiolucent necrosis @ 2-3wks. MRI
is better for imaging. CRP elevated in 95% (nl within 7d of tx). ESR elevated in 90% (nl after 3-4wks).
Tx: IV or high-dose oral abx for 4-6 wks.
Broad-specrum anti-staph, like cefazolin, nafcillin, oxacillin).
Neonates: GBS, GNR coverage
SCD: third-gen cephalosporin for salmonella
Narrow after organism recovered. Surgery if abscess / sequestrum found
Septic arthritis: more common than osteo. From bacteremia. Think infants, young kids mostly
Painful joint, fever, irritability, refusal to bear weight. Limited ROM, tender joint, +/- swelling on exam
DDx: osteomyelitis, inflammatory arthritis, reactive arthritis
Labs: tap joint. WBC> 25,000 in joint fluid, often get bacteria too (but GC is harder to isolate)
Neonates
Cefotaxime
hip
S. aureus #1
also Kingella kingae, S. pneumo
Ceftriaxone
Older kids
knee
Transient (toxic) synovitis of the hip: frequent cause of hip pain, stiffness in children.
?infectious, often after viral illness.
ROM limited - present in unilateral frogleg position, have hip effusion and pain on internal / external
rotation but child is afebrile and bears weight, ESR < 40, low CRP, WBC < 12k (vs septic arthritis)
Reactive arthritis: think chlamydia, also after enteric bacteria (yersinia, salmonella, campylobacter)
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happens weeks afterwards (kid who has arthritis who had diarrhea wks ago!)
Also on ddx of arthritis: leukemia (wt loss, appetite decreasing, nosebleeds from thrombocytopenia, bone pain)
Psych
ADHD - needs to be present in more than one setting and start before 7 yrs old, 6mo+ of sx
Inattentive, hyperactive, and combined types. DDx vs abscence sz.
Send questionnaires to parents, teachers.
Use simulants (methylphenidate, dextroamphetamine); atomoxetine (NE reuptake inhibitor, less tics
associated), also buproprion, imipramine / nortriptyline / pemoline. 70% respond
Comorbid oppositional defient disorder (most common) / conduct disorder is common; also
comorbid learning disabilities. send for full workup
Tics & Tourette Syndrome
Tics - nonrhythmic, spasmotic, involuntary, sterotyped; any muscle group
Transient tic disorder: common, often in boys; often FHx - eye blinking, facial movements,
throat clearing; lasts for weeks to a year then often resolves; can be chronic though
Tourette syndrome: life-long, motor + vocal tics for at least 1 yr without 3 months free of tics, needs to
be age < 18, causes disturbance
obsessive-compulsive behavior, high incidence of ADHD too
Treat with clonidine (alpha-2 receptor agonist which decreases NE by acting on locus ceruleus)
If that doesnt work, try atypical antipsychotics
Pulmonology
Things to remember: Cant get PFTs until 5-6 yrs. Intrathoracic = expiratory, extrathoracic = inspiratory
Upper airway obstruction
Neonates - noisy inspiration, increased WOB, retractions. Subglottic = high pitched, monophonic.
Supraglottic = variable, fluttering stridor, varies with position of head / neck. Pronounced difficulty
during feeding in infants. Tx based on etiology. If severe, may need tracheostomy until definitive tx
Choanal atresia - dangerous (obligate nose breathers), better with crying, dx by trying to pass 16
french catheter into nose.
Mandibular hypoplasia - leads to glossoptosis (tongue displaced backwards). Also kids with big
tongues (trisomy 21, macroglossia in B-W syndrome)
Vocal cord paralysis: uni / bilat, can be congenital but more frequently acquired. Hoarse voice too
Laryngeal webs: uncommon, congenital lesions; cause respiratory distress in delivery room,
disappears with intubation
Laryngomalacia: big floppy arytenoids or epiglottis. #1 cause congenital stridor; resolves over
1-3 yrs of life with growth
Subglottic masses (hemangiomas, cysts). Subglottic stenosis (acquired, from prior intubation)
Compression of upper airway by anomalous vessel
Older kids: acquired lesions become more likely.
Think enlarged tonsils, adenoids (esp during viral URI), foreign bodies, infections (acute
laryngotracheitis, peritonsillar / retropharyngeal abscesses, etc.
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CPAP an option if other interventions fail; if untreated, severe OSA can lead to CHF /
death!
Asthma:
Wheezing kids: consider also inflammation / failure to clear secretions (bronciholitis, GER with aspiration,
CF, TEF, primary cystic dyskenesia), intraluminal mass (foreign body, tumor, granulation tissue), dynamic
airway collapse (tracheobronchomalacia), extrinsic compression (vascular ring, mediastinal LN/mass)
Rule of 2s:
symptoms 2x/wk (or less)
nighttime awakenings 2x/month (or less)
short-acting beta-agonist 2x/wk (or less)
fewer than 2 exacerbations needing corticosteroids in last 6 months
with no interference with normal activity is intermittent asthma, better control. (exception - no
nighttime awakenings allowed in kids, 0-1 exacerbations per year).
Additionally, FEV1 between exacerbations should be > 80% predicted; peak flow > 85%
Stepwise therapy:
If well controlled, check up q1-6mo. If well controlled > 3 mo, consider step down
If not well controlled, step up & re-evaluate in 2-6 wks
If very poorly controlled, consider short-dose oral corticosteroids, step up 1-2 steps, re-eval 2 wks
All steps get SABA PRN. Then add low dose ICS --> medium dose ICS / add LABA, LTRA, or
theophylline (either order) --> high dose ICS + LABA --> add oral corticosteroids
Higher risk of death: noncompliance, poor recogn. of sx, delay in Tx, hx intubation, AA, steroid dependence
The pathway: acute exacerbation
3x nebs: albuterol + atrovent (combi), then albuterol, then albuterol + atrovent
2 mg/kg steroids x 5 days
Cystic Fibrosis: disordered exocrine gland function is hallmark, leading to abnormal viscid secretions
From CFTR Cl channel mutation on chr 7 (surface of epithelial cells - gets sequestered inside cell).
Aut-rec; most frequent in Caucasians, 75% from deltaF508 mutation
Also cant bind Pseudomonus in lungs; decreased NO production (exaggerated inflammation)
Screen with pancreatic immunoreactive trypsinogen (IRT) test (blood spot screening) - elevated in CF
False negatives possible, so do more testing if newborn screen negative & high susp (mec ileus, etc).
Findings: nasal polyps (test these kids for CF!).
Infections: S. aureus, H. flu early in childhood --> P. aeurg in late childhood / early adolescence,
Burkholderia cepacia is really ominous (accel. pulm. deterioration, early death)
GI: pancreatic insufficiency, bowel obstruction, rectal prolapse, diabetes, hepatic cirrhosis.
Decreased fat absorption (pancreatic loss) - large, bulky, foul-swelling stools. Often see failure to
thrive as initial manifestation. Meconium ileus too (no stool passage, vomiting / abd distention,
distended bowel loops, bubbly pattern in intestine with narrow colon on abd x-ray, surgical
emergency!)
Pulm: wheezing, air trapping, obstructive PFTs, chronic sinus disease
GU: obstructive azoospermia in males, reduced fertility in females.
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Primary ciliary dyskinesia: aut-rec group of diseases; cilia dont work = bad mucociliary clearance
Recurrent bronchial obstruction, sinusitis, chronic otitis media, recurrent resp infections
Sx similar to CF, asthma
Dx: abnormal ciliary beat under light microscopy or microsopic exam of ciliated cells in nose, bronchi
Tx: simlar to pulmonary CF components, although not the same P. aeurg propensitiy.
Restrictive lung diseases: much less common in kids
Pectus excavatum (depression of sternum) or carinatum (outward), if severe
Neuromuscular disease (GBS, muscular dystrophy, SMA)
Big lesions occupying intrathoracic space (e.g. diaphragmatic hernia, etc)
ILD: rare. Sarcoid, desquamative interstitial pneumonitis, etc.
Idiopathic pulmonary hemosiderosis (IPH): post diffuse alveolar hemorrhage; idiopathic or with bleeding
disorder; see hemosidin-laden macrophages (siderophages) in bronch washings. An example of an ILD
Consider in kids with fever, resp distress, CXR findings that look like PNA - but findings clear rapidly,
kids have lots of recurrent PNA and signs like clubbing that point to a chronic process.
Also see microcytic hypochromic anemia, low serum Fe, occult blood in stool (swallowed pulmonary
secretions). Get bronchoalveolar lavage.
Subset have hypersensitivity to cows milk (Heiner syndrome) & improve off of milk
Apnea of infancy: any cessation of breathing that lasts for 20 seconds or more, or involves color changes
(cyanosis or pallor), hypotonia, decreased responsiveness, bradycardia. treat underlying disorder (infection,
neurologic, respiratory, cardiac, GERD, abuse).
ALTE if parents believe could have been fatal
management: treat underlying disorder. Can put on home monitor which will sound alarm for apnea,
bradycardia, but dont reduce SIDS likelihood (since apnea does not raise SIDS risk).
Renal
Glomerular disease
Nephritic syndromes: think red cell casts, edema, mild HTN, hematuria, etc. Can use Ca-channel blockers for HTN
Classic presentation
Lab features
Notes
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APSGN
IgA
nephropathy
Recurrent painless
hematuria, usually after URI
HSP
Benign familial
hematuria
Goodpasture
syndrome
Anti-basement membrane Ab
(linear pattern)
Alport
syndrome
No progression to chronic
renal failure
Nephrotic syndromes: think marked proteinuria (>1,000 mg/m2/day); often mostly albumin in kids.
can get hypoalbuminemia and hyperlipidemia (as liver ramps up production of lipoproteins to respond
to low plasma oncotic pressure).
Classic presentation
Lab features
Notes
Minimal change
Normal light
microscopy; podocyte
foot process effacement
on EM
FSGS
Membranoproliferative
GN (MPGN)
IC deposits in
subendothelial space -->
rebuild BM on top -->
tram tracks
Membranous
nephropathy
mostly adults
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66
has positive urine anion gap, with hyperkalemia (by definition) and urine pH < 5.5 (can still acidify the
urine OK).
Use furosemide to correct hyperkalemia.
Fanconi Syndrome: Proximal tubular disease (type 2); can be secondary to genetic dz (cystinosis, galactosemia,
Wilson disease) or drugs (aminoglycosides, expired tetracycline, cephalothin, cidofovir, valproic acid, 6-MP,
azathioprine, cisplatin, heavy metals, etc.) - via acute tubular necrosis, alteration of renal blood flow, allergic
reacitions.
Anorexia, polydipsia, polyuria, vomiting, unexplained fevers
Glucosuria with normal serum blood sugars
High urine pH with mild/moderate serum hyperchloremic metabolic acidosis, UAG normal (0 or neg)
Mild albuminuria with normal serum protein, albumin but low serum phosphorus, calcium
Rheumatology
JIA (Juvenile idiopathic arthritis / formerly JRA)
faint rash, joint pain, daily spiking fevers with waxing/waning body pain, joint swelling, morning
stiffness usually lasting > 30 minutes
CBC: thrombocytosis, leukocytosis, anemia
RF+: more like adult disease (50% progress to adult RA); RF-: better prognosis
Categories:
Stills disease (systemic-onset JIA): arthritis with visceral involvement (hepatosplenomegaly,
serositis, lymphadenopathy)
Pauci (or oligo) articular JIA: JIA with 1-4 joints involved
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Sjogren
Gottron papules
Juvenile DM
Nailfold capillary
changes
Purpura
HSP, small/medium
vessel vasculitis
Arthritis
JIA, SLE
Malar rash
SLE, dermatomyositis
Muscle weakness
Juvenile dermatomyositis
Raynaud phenomenon
SLE, scleroderma
Skin tightening
Scleroderma
Systemic RA
Sterile pyuria
Kawasaki
ANA
SLE
Rheumatoid factor
Low C3/C4
SLE
Elevated CPK
juvenile dermatomyositis
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Anti-Ro, Anti-La
Sjogren syndrome
Adolescence
Timing of puberty
Males: testicular enlargement, then pubic hair, penis lengthening, then max height velocity
Females: thelarche, pubarche, maximal height velocity, then menarche
Delayed puberty: no signs by age 13 in girls or no menacrhe 3 yrs after start of puberty, age 14 in boys
Think gonadal failure, chromosomal abnormalities (Turner/Klinefelter), hypopituitarism, chronic
disease, malnutrition
Constitutional delay is #1 caues (90-95%) - with delayed bone age, slow growth, fhx.
Precocious puberty: signs earlier than age 7 in girls, age 9 in boys (may be earlier for AA girls)
Sex hormones generally appropriate for stage of puberty, but not for chronological age: estradiol in F, T in
M
LH/FSH vary, so single sample not good enough.
Use GnRH stimulation test instead (GnRH, measure LH/FSH response)
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wise but never menstruates or develops pubic hair, found to have a blind vaginal pouch on exam,
genotype ends up being 46, XY
Prader Willi - chr 15q, paternal deletion
hypotonia, FTT, hypogonadism early in life
hyperphagia, obesity, MR, bizarre behavior by 6 years; limited sexual function
Genitals (M)
prepubertal
prepubertal
none
II
breast bud,
areola widens
III
elevation of breast +
areola
IV
adult-type hair,
no spread to thighs
adult
adult-type hair,
spread to thighs
Mittleschmerz - sudden onset of RLQ or LLQ pain with ovulation; can have mucouid vaginal discharge
On ddx of appendicitis!
Dysfunctional uterine bleeding:
Categorizations
Menorrhagia: excessive / prolonged bleeding with a regular menstrual cycle
Metrorrhagia: irregular bleeding between menstrual cycles
Menometrorrhagia: irregular uterine bleeding with excessive / prolonged flow
Tx:
Hb > 12: Iron & follow-up
Hb 9-12: Treat with a few cycles of OCP and iron
Hb < 9: IV estrogen & may need hospitalization, transfusion
Ectopic pregnancy: abdominal pain, vaginal bleeding, amenorrhea classic, but only in 50% cases
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Substance Abuse
PCP intoxication
Phencyclidine, angel dust, horse tranq, happy leaf. piperidine like ketamine; originally anesthetic (NMDA
receptor blocker), long-acting (6h short-term effects, full effect can last several days, variable behavioral
changes, unpredictible), often with MJ
Dysarthria, nystagmus (vertical), belligerent, hyperacusis, ataxia, muscle rigidity, can cause sz / coma,
numbness, HTN / tachy
Treatment: treat HTN, can acidify urine to increase excretion, hospitalize in a quiet dark room. Gastric
lavage / charcoal can help. treat seizures as needed
Avoid restraints (more muscle breakdown), gastric lavage (emesis / aspiration), typical antipsychotics
(anticholinergic side effects make it worse). Benzos can delay excretion, so avoid those too.
Alcohol dependence:
Lab tests: elevated liver transaminases (particularly gamma-glutamyl transferase, GGT) and macrocytic
anemia
Alcohol acute use:
manage with respiratory support, gastric lavage / charcoal, thiamine / glucose as needed
Alcohol withdrawal:
Typical stages: tremulousness / jitteriness (6-8h), psychosis / perceptual sx (8-12h), seizures (12-24h),
DTs (24-72h, up to 1 wk)
DTs: disorientation, tremors, elevated vital signs, fluctuating consciousness post-stoppage, can be fatal!
DDx vs thyrotoxicosis, pheochromocytoma, inappropriate use of beta-agonist inhalers /
sympathomimetics.
Use long-acting benzos (chlordiazepoxide, diazepam). Oxazepam, lorazepam are good if liver function
may be compromised
Cocaine intoxication:
Behavioral: euphoria, bluted feelings, hypervigilance, hypersensitivity, anxiety, poor judgment, anorexia
Physical: dilated pupils, autonomic instability, chills/sweating, n/v, PMA/R, chest pain / arrhythmias,
confusion / sz / stupor / coma, wt loss
Cocaine withdrawal: can last 2-4 days or longer, "crash" (dysphoria, irritibility, anxiety, hypersomnia, depressive
sx incl SI).
Intox - withdrawal during lifetime of addiction can mimic bipolar disorder in the history!
Amphetamine intoxication: causes adrenergic hyperactivity (tachy, pupils dilated, hypertensive, perspiring, chills,
nausea / vomiting, anorexia / wt loss, mm weakness, can have hallucinations, resp depression chest pain,
arrhythmias, confusion, sz, dyskinesia, dystonia, coma can result)
Meth gives you bad dental problems (meth mouth) + paranoia, hallucination / tics / aggression
Treat overdose with benzos / haloperidol, cooling blankets if needed, treat HTN / arrhythmias PRN
Amphetamine withdrawal: the "crash" (anxiety, tremors, lethargy, fatigue, nightmares, headache, extreme hunger)
Opioid intoxication: apathy, PMR, constricted pupils, drowsiness
Tx: cardiorespiratory support, gastric lavage / charcoal if ingested, naloxone if ODing
Opioid withdrawal: nausea / vomiting, muscle aches, fluids from all orifices, autonomic hyperactivity, fever, dilated
pupils, depressed / anxious mood, rarely life-threatening
Generally, longer-acting substances give less withdrawal
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Marijuana:
Acute use: elation, relaxation, impaired cognition; mood instability, hallucinations. Drowsiness, slowed
reaction times, tachycardia, orthostatic hypotension, injected conjunctiva, dry mouth.
Tx: can use benzos if severely agitated
Ecstasy (MDMA):
Acute use: sense of happiness, enhanced well being; agitation, confusion, shock can result. hyperthermia,
hypertension, tachycardia, tachypnea, dilated pupils, agitation, hyponatremia possible. Give activated
charcoal, benzos for agitation / HTN, FEN management, cooling blanket if needed
Hallucinogens (e.g. LSD)
Acute use: euphoria, increased alertness; nausea, anxiety, paranoia, hallucinations, coma. Restlessness,
labile affect, hyperthermia, tachycardia, HTN, flushing, pupil dilation, injected conjunctiva, hyperreflexia
Tx: talk down in calm environment; benzos, cooling blanket if needed, HTN treatment
Inhalants
Acute use: euphoria, impaired judgement; progresses to hallucinations, psychosis, sz, coma. Agitation /
stupor, sluured speech, nystamus / tearing, rhinorrhea, increased salivation too.
Tx: cardiorespiratory support as needed.
Miscellaneous
Cold Injuries
Frostnip: small, firm, cold, white patches of skin in exposed areas. Rewarm areas to treat. No tissue
necrosis involved.
Chilblain: aka pernio, perniosis. Small, ulcerate, purple, edematous plaque/nodules on exposed
areas (ears, fingers) that can last 1-2 weeks & can be really pruritic. Develop 12-24h after exposure.
Dont pop blisters, dont warm with really hot water (asensate in that area!)
Cold panniculitis: destruction of fat cells after exposure to cold or cold object (e.g. Popsicle panniculitis,
on cheek). Can even look vasculitic.
Trench foot: prolonged exposure to cold/moisture . cold, numb, pale, edematous foot. Can have
autonomic disturbance for years afterwards.
Frostbite: tissue is frozen & destroyed. Stinging --> aching --> numb areas that are hard & cold. When
rewarmed, becomes red, blotchy, painful. Careful for gangrene afterwards.
Prevent further exposure
Remove wet clothes
Rewarm directly by skin-skin contact (not a fire, not with friction). Give tetanus ppx!
Hypothermia: cold weather exposure; core temp drops --> tired, uncoordinated, lethargic, apathetic,
mentally confused, irritable, bradycardic
Teeth: see mandibular before maxillary teeth and incisors first, work way back to molars. Girls before boys.
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Child Abuse
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