Vous êtes sur la page 1sur 88

Peds Shelf Notes

Cardiovascular Dermatology Development Endocrinology Fluids Genetics & Other Congenital

Stuf GI/Nutrition GU/Urinary Hematology Infectious Disease Neonatology Neurology Oncology
Ophthalmology Orthopedics Psych Pulmonology Renal Rheumatology Adolescence Miscellaneous

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
large systolic pulmonary flow murmur + LLSB diastolic murmur heard; can have
wide split S2

Cyanotic Heart Defects

Note: if somethings happening around 10-15h of life and it looks cardiac, give prostaglandin to
open PDA!
Also do hyperoxia test: if PaO2 on 100% O2 < 50, probably a mixing cardiac lesion (big
Ductal-independent: Truncus, TAPVR, D-transposition of great arteries (all mix on their own)
Ductal dependent:
For pulmonary blood flow: TetFallot, critical pulm stenosis, tricuspid atresia, PA-IVS
For systemic blood flow: hypoplastic left heart, interrupted aortic arch, critical coarc,
critical aortic stenosis, tricuspid atresia with transposition of the great arteries.




Transposition Aorta, pulmonary

of the Great
artery switched.
When PDA closes, two
parallel circuits formed
without a/v mixing trouble! Less sx if VSD
present too.

Healthy-looking kid stops

feeding, looks dusky, breathes
fast, long cap refill @ 15h (PDA
closes). Loud, single second
heart sound. Egg on a
string on CXR (narrow
mediastinum: aorta, pulmonary
artery superimposed)

(open PDA), then
create ASD
septostomy) via
cath for palliation;
definitive surgery
in first 2 wks

Tetralogy of

See boot shaped heart (RVH),

decr. pulmonary vascularity.
Classically with tet spells
(sudden incr. in R-L shunting,
cyanosis after activity, child
squats to compress peripheral
vessels / improve pulm blood


Cyanosis, exercise intolerance.

ULSB systolic ejection

via cardiac cath.

1). Pulmonary
2). Overriding aorta
3). VSD
4). RVH.
A/w 22q11 (DiGeorge)


Stenosed pulmonary
valve = outflow



murmur that radiates to back;

systolic click. EKG: R-axis dev
with more severe (RVH). A/w
glycogen storage dzs,
Noonan syndrome


No outlet between RA,

RV - need foramen
ovale, ASD, VSD for
mixing. Leads to RV

Cyanosis. Decreased pulm

vasculature on CXR.
The only cyanotic heart disease
with LVH on EKG, exam, echo
(others have bigger RV!)

then surgical
(modified BT,
then hemiFontan,
then Fontan)


Regurgitant tricuspid
valve displaced
towards bottom of R
heart (small RV
results). Obstructs
ventricular outflow
(large anterior leaflet

Cyanosis. Wide, fixed split S2,

tricuspid regurg blowing
murmur @ LLSB, extreme
cardiomegaly on CXR

then surgical

TAPVR: Total

Anomalous pulmonary
veins enter systemic
veins (oxygenated
blood shunted back to
venous side!) Must
have ASD/PFO for

Snowman shadow above

heart (outlines of pulm vv
draining to innominate vein &
persistent left superior vena
cava). RV heave, fixed split S2,
cardiomegaly, RVH, cyanosis

(emergent if
within 1 mo of life
if not)

left heart

Underdeveloped left
side of heart. Need
ASD/PDA: ASD to get
O2-rich blood from LA
to veins, where it can
go to body via PDA

Cardiomegaly, increased
pulmonary vascularity. See
poor R wave progression & RVH
on EKG.

(Norwood, Glenn,
Fontan staged
repair) /

atresia with
septum (PAIVS)

Pulmonary valve
small or shut of, with
no VSD = no mixing!

Cyanosis within hours, worse

with closure of PDA
Decreased pulmonary



Single arterial vessel

from base of heart
gives rise to coronary,
systemic, pulmonary
arteries, always with

A/W DiGeorge. Nonspecific

murmur, minimal cyanosis at
birth, but CHF in weeks (pulm
vasc resistance falls, lungs suck
up blood, systemic blood flow
falls). loud ejection click,
single S2 with bounding

Surgery (close
VSD, separate
arteries, conduit
from RV to

A/w lithium during pregnancy,

also a/w WPW

Cardiac surgeries

Norwood procedure: connect subclavian to pulmonary artery (modified blaylocktaussig 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
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:
More likely innocent

More likely congenital heart disease

Murmur intensity grade 2 or less, heard at left

sternal border
Normal S2
No audible clicks
Normal pulses
No other abnormalities

Murmur intensity grade 3 or higher

Harsh quality
Pansystolic duration
Loudest at upper left sternal border
Abnormal S2
Absent or diminished femoral pulses
Other abnormalities

Peripheral Pulmonary Stenosis (= pulmonary branch stenosis).

Classic murmur description: grade 1-2/6 high pitched /blowing mid-systolic
ejection murmur, best heard @ LUSB, radiating to axilla and through to back.
Epidemiology: responsible for majority of innocent murmurs in term infants (especially
after 24h, when most PDA have closed, and PDA is no longer explanation).
Physiology: The murmur may be due to the relative hypoplasia at birth of the branch
pulmonary arteries compared to the main pulmonary artery (which is large because it
feeds the PDA and systemic circulation in utero) and their sharp angle of origin, which
causes turbulence and the murmur. Disappears by 2-3 months of age as branches
Pulmonary Flow murmur is a similar murmur, also benign, heard in older kids ( 6 to
adolescence) systolic ejection murmur best heard at LUSB, from turbulence of flow where
main pulmonary artery connects to R ventricle (across pulmonary valve).
Stills Murmur (= vibratory murmur):
Classic murmur description: low pitched, vibratory, musical (strummed bass
fiddle), grade 1-2/6 systolic ejection murmur; are usually best heard between the
LLSB and apex.
They typically decrease in intensity or resolve with a Valsalva maneuver, which can
be induced in infants by gentle pressure on the abdomen. Still's murmurs tend to vary
with heart rate, becoming more evident as the heart rate slows.
Epidemiology: can present in infancy; also often between 3-6 years old.

Physiology: Somewhat controversial; some thing its from vibration of MV or chordae;

others think its just from high-turbulence ejection from LV.

Venous Hum: benign; continuous / soft / humming murmur heard @ neck, right upper
Heard in 3-6 y/olds mostly. From turbulent flow in jugular venous / SVC systems.
Disappears when supine
Carotid Bruit (3-7 yrs): systolic ejection murmur best heard at neck
turbulence where brachiocephalic vessels attach to the aorta

Possibly Pathologic Murmurs:

VSD: Classic murmur description: 2-3/6 low-pitched harsh holosystolic murmur best @ L midto-lower sterna border (small VSD). If subpulmonic, best @ LUSB. If spontaneously closing,
holosystolic murmur shortens (early systole only, then disappears).
Epidemiology: 20% of all children with CHD have an isolated VSD.
Physiology: Membranous, subpulmonic, AV canal, muscular defect. In utero, RL sided
systolic pressures; mostly insignificant. L to R shunt after pulmonary resistance falls,
ductus arteriosis closes. Often present 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.

Fixed splitting of S2 (wide on both inspiration and expiration).

No murmur from flow (atrial flow doesnt have high enough gradient).
Can have pulmonic systolic ejection murmur from increased RV volume.
No good evidence to close a small ASD / PFO despite theoretical risk paradoxical
embolism. Close large hemodynamically unstable ones. Majority of small (<6mm)
isolated secundum defects close by 2 yrs.

PDA: continuous, machine-like murmur, 3/6 or less, best heard in L infraclavicular region.
Continuous because aortic pressure is higher than pulmonary pressure throughout diastole
and systole; max intensity around S2. No change with position. Moderate / large can

be symptomatic (exercise intolerance); even lead to RL shunt & eisenmengers

Consult peds cards; generally close even small audible PDAs (even those have risk
endocarditis) with indomethacin; controversial about silent PDAs.

Coarctation of the aorta: think Turners syndrome; ductal dependent; start prostaglandins,
see diferential blood pressures & pulses, may require surgery
Aortic stenosis: in kids, often a/w bicuspid aortic valve which becomes stenotic. harsh
systolic ejection murmur best heard @ RUSB with ejection click preceding it; may have
thrill, may radiate to carotids. LVH on EKG. If critical, may be ductal dependent prostaglandin indicated. Otherwise, try balloon valvuloplasty
Pulmonic stenosis: if critical, may force foramen ovale open --> R to L shunt. ejection
click, then harsh systolic ejection murmur @ LUSB +/- thirll, RV heave; enlarged PA on CXR,
RVH on EKG. May need prostaglandins.
Rheumatic heart disease: most often acutely causes mitral regurgitation, later in life may
progress to mitral stenosis. Aortic valve is #2.
Kawasaki disease: can cause pericarditis, myocarditis, coronary arteritis, but coronary
aneurysms are the most worriesome thing (most in subacute phase, days 11-25, regress in
most patients, less risk if aspirin used). Then use low dose aspirin until the aneuryisms
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
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).

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
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,
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
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 cuf covers 75% of upper limb, right cuf side, take multiple extremities if
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).

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, difuse 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
Wiskott-Aldrich: X-linked recessive, recurrent infections, thrombocytopenia, eczema
Psoriasis: erythematous papules that coalesce --> dry plaques with sharp borders and
silvery scale
Removing scale --> pinpoint bleeding (Auspitz sign). Can see stippling, pitting,

onycholysis of nails
Childhood: scalp, periocular, genital areas; also knees, elbows
Tx: topical steroids; if severe, may need methotrexate / TNF-alpha inhibitors
Seborrheic dermatitis
Infants: cradle cap. Greasy brown scales; starts on scalp in first few months of life.
can involve ears, nose, eyebrows, eyelids (vs eczema)
Treat with ketoconazole-containing shampoo or low/med potency topical
Pityriasis rosea: herald patch, then salmon-colored lesions in christmas tree
Unknown cause. Tx with topical antipruritics, creams, antihistamines, ?phototherapy
Erythema toxicum: benign, self limited, 50% newborns, unknown etiology; eosinophil in fluid
Yellow-white 1-2mm lesion with surrounding erythema; rash waxes/wane over
days/wks of life
Salmon patch = nevus simplex: flat vascular lesions on nape of neck, eyebrows; more
prominent w/ crying
Benign, self-limited, fade with time if on face
Large vascular anomalies (e.g. kaposiform hemangioendthelioma, tufted angioma) can exhibit
the Kasabach-Merritt phenomenon - basically sequester platelets, RBCs & get peripheral
thrombocytopenia, coagulopathy, microangiopathic hemolytic anemia.
can treat with corticosteroids, vincristine. Can lead to excessive bleeding during
Pustular melanosis: benign, self-limited, neonatal rash, blacks > whites, found at birth
Pustules that rupture within days and are then hyperpigmented for weeks; eventually
Sebaceous nevi: small, sharply-edged, head/neck of infants; yellow-orange in color,
elevated, hairless
Milia: fine, yellow-white 1-2mm lesions scattered over face, gingiva of neonates; cyst w/
keratinized stuf inside
Resolve spontaneously. Called Epsteins pearls on palate
Papular acrodermatitis of childhood (Giannoti-Crosti syndrome):
Asymptomatic erythematous papular eruption, kids 1-6 yrs after URI, EBV, varicella,
Suymmetrically on face, extensor arms/legs/buttocks, spares trunk
Infantile hemangiomas: often not present at birth, technically vascular tumros, can be in any
location but most commonly head / neck. Generally present in 1st month, grow for several
months / 1 yr, then involute slowly (generally resolved by 10 years of age).

Can use propranolol for severe hemangiomas to speed involution!

Comedones: open = blackheads (compacted melanocytes); closed = whiteheads
(prurulent debris)
P. acnes is implicated.
Categories: inflammatory (papules/ pustules/nodules/cysts) or non-inflammatory (just
start with benzoyl peroxide or topical Retin-A (tretinoin); often try benzoyl
peroxide in morning, tretinoin at night (need to wash benzoyl peroxide of first for
tretinoin to work)

Tretinoin - increases cell turnover, inhibits microcomedone formation

topical abx next (erythro, clinda) applied BID; can be used at same time as
benzoyl peroxide or tretinoin
systemic abx next (usually tetracycline - have to take on empty stomach, as
milk products bind tetracycline; also leads to photosensativity)
ortho tri-cycline (OCP) can also be used.
isoretinoin (Accutane) for severe, resistent, nodulocystic acne (4 mo course)

Teratogen! get negative pregnancy test immediately before

started; need efective contraception too. Remember oral abx can
decrease OCP efectiveness, so be careful with these patients who might
be taking tetracycline too!

Side efects: chelitis, conjunictivitis, hyperlipidemia, elevated

LFTs, photosensitivity, can also get depression.

Treatment can be profound & permanent!

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?), selflimited
Tinea capitus: Most commonly Trichophyton tonsurans (also microsporum canis from
Patches of scaling and hair loss with black dot sign (broken of 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.

Gross motor

Fine motor



1 mo

Start to lift head

from exam table

Follow eyes to
midline only,
hands clenched

Alerts / startles to
sound; starts
vocalizing a bit

Regards parents
Responds to bell

2 mo

Raises chest, lifts

head of table if

Follows object
180 degrees;
holds rattle

Coos, reciprocal

Smiles socially,
laughs, squeals,

Orients to voice,
laughs, squeals

Initiates social


night (2-3

Follows toy from

side to side &

3 mo

4 mo

Rolling over
Head control with
no lag; lifts onto

Reaches with
both hands
together, bats at
objects, grabs &

6 mo

Sitting up; tripoding

(needs support)
Reach for objects
Roll over well

Reaches with
one hand & can
btransfer handhand


objects, persons
as unfamiliar

9 mo

Sit without
support, crawls,
pulls to stand

Uses pincer
grasp & finger

Babbling still, no
mama, dada,

Gesture games
(pat a cake), own
name, object
stranger anxiety

12 mo

Walk holding on to
furniture (cruises),
a few independent

Pincer grasp &

(cheerios); two
cube tower

Specific mama,
dada + 1-4 other

Imitates, comes
when called,
cooperates with

15 mo

Walks well

Two cube tower,

throws ball

4-6 words + jagon,

responds to 1 step

Uses cup,
indicates wants /

18 mo

Runs, walks up
stairs with help,
stoops / recovers

Three block
tower, uses
spoon, scribbles

10-25 words,
points to body
needs / wants

Plays near (not

with) other kids

2 yr

Stairs unassisted,
can kick / throw
ball overhand,
jumps with two feet
of floor

4-6 block tower,

fork / spoon,
copies straight

50 words total
2 word sentences
50% speech
intelligible to

Removes simple
clothes, parallel

3 yr

Tricycle, broad

Copies circle

250+ words

Knows age,

juices in
cup, not

training (or
when child



Copy square /
cross, catches

3-8 word
75% speech

gender; group
play, shares

language - can
tell a story 4
colors, can define
5 words, knows 3

Dresses self, puts

on shoes, wash /
dry hands,

4 yr

Stand on each leg

for 2 seconds

5 yr

Stand on each leg

for 5 seconds / skips
with alternating feet

Draws person
with 6 body parts

Asks what words


names 4 colors,
plays cooperative

6 yr

Rides bike

Writes name

Written letters,

Knows right vs
left, knows all

Language is #1 predictor of future intellectual potential.

Constitutional growth delay: FHx late bloomers, growth rate is normal but running along
low %ile,
bone age < chron age (can catch up). T injections can jump start puberty
Familial short stature: short child of short parents. growth rate is normal but running along
low %ile,
bone age = chron age (no catch-up potential)
GH deficiency: 1/4k children, slow growth, fall of of curve, children look younger, wt age >
ht age (chubby)
bone age < chron age (catch up potential)
Screen with serum IGF-1 or somatomedin C + IGF-BP3, Rx with recombi GH
injections until adult ht
Can have functional GH deficiency if psychosocially deprived - look just like primary GH
deficiency kids; blunted GH response to GH testing; resolevs when removed from
Hypothyroidism: usual sx, but also slow growth - see bone age < chron age (can catch up)

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
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: ketoacidosis with elevated gap, ketones in urine
HHS: lactic acidosis with elevated gap, few ketones in urine
Insulin regimens: think basal/bolus
TDD: 0.8-1.0 U/kg/day; if still making insulin 0.5-0.6 u/kg/day
Basal: usually lantis, qd. 50% TDD
Should keep you steady overnight - check trajectory of glucose during the night.
Bolus: novolog, humalog, epidra. 50% TDD
I:C ratio = 450/TDD (x units insulin per g of carb)

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
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
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 =
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

Congenital Adrenal Hyperplasia

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,
Females: ambiguous genitalia with normal ovarian development / internal
Males: no genital abnormalities
Will need cortisol therapy and fludrocortisone if needed for mineralocorticoid
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
Cushings syndrome
Cushings disease: bilateral / congenital adrenal hyperplasia from pitutiary
adenoma is #1 cause in kids (after exogenous corticosteroids, of course)
Dx: elevated serum cortisol, 24h urine free cortisol, midnight salivary cortisol
if high, go on to dexamethasone suppression test (dexamethasone in late
evening wont suppress cortisol in morning). high dose dexamethasone
suppression: cant suppress exogenous ACTH (e.g. SCLC); much less common in
kids though.
Tx: remove adrenal tumors if present
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)

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)

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
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
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
Hyperkalemia: if K > 5.8. Often artifactual (hemolysis) but recheck.
Paresthesias, weakness, flaccid paralysis, tetany.
EKG: peaked T-waves, wide QRS. V-Fib, code @ ~ 9 mEq/L
Treat with calcium gluconate to stablize the membrane; can have them hyperventilate
too (alkalosis --> exchange K for H, drives inside), insulin + glucose to drive inside also,
then Kayexylate or other exchange resin to get out of body.


Hypokalemia: if K < 3.5. Think loop diuretics or vomiting induced alkalosis, or ketoacidosis
Weakness, tetany, constipation, polyuria/polydypsia
EKG: flattened T waves, prolonged QT. Treat by correcting pH, replentishing K
orally or IV.

Genetics & Other Congenital Stuf



Warfarin (Coumadin)

Hypoplastic nasal bridge, chondrodysplasia punctata


Fetal alcohol syndrome, microcephaly, CHD (septal defects, PDA)


Facial and ear anomalies, CHD


CHD (Ebstein anomaly, atrial septal defect)


Cutis laxa syndrome

Phenytoin (Dilantin)

Hypoplastic nails, intrauterine growth retardation, cleft lip and


Radioactive iodine

Congenital goiter, hypothyroidism


Vaginal adenocarcinoma during adolescence




Virilization of female


Dental enamel hypoplasia, altered bone growth


Phocomelia, CHD (TOF, septal defects)


Typical facies, CHD (TOF, TGA, HLHS)


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.
A/w advanced maternal age. 95% from nondysjunction
also translocation (can be familial), mosaicism as less frequent causes.
A/w cardiac defects (50%) incl endocardial cushion (60%), VSD (30%), Tet of Fallot
(6%), also duodenal atresia (12%, see double-bubble pattern, have bilious emesis
after first feedings). Other associations: hearing loss, strabismus, cataracts, nystagmus,


congenital hypothyroidism (evaluate with optho, thyroid, hearing).

Higher risk leukemia, Alz dz later on. IQs can vary widely.
May have cervical spine instability: careful with activities that may involve forceful
Trisomy 18: Edwards Syndrome
Low-set, malformed ears, microcephaly, rocker-bottom feet, inguinal hernias, cleft lip/
palate, micrognathia, clenched hands with overlapping digits, small palpebral fissures,
prominent occiput, small pelvis, short sternum, cardiac defects (VSD/ASD/PDA, coarcs).
Trisomy 13: Patau Syndrome
microcephaly, sloping forehead, holoprosencephaly, cutis aplasia (missing part of skin &
hair), polydactyly, microphthalmia, coloboma, omphalocoele. Also cleft lip / palate,
cardiac defects (VSD/ASD/PDA/dextrocardia), hypersensitivity to atropine / pilocarpine
containing agents.
Triple screen (UE3 = unconjugated estradiol)



Associated conditions




Down Syndrome




trisomy 18 (Edward's syndrome)


neural tube defects like spina bifida associated with increase

levels of acetylcholinesterase in aminonic fluid, or omphalocele,
or gastroschisis, or multiple gestation



Rett syndrome: MECP2 gene on X chromosome. Girls afected.

normal at birth but then rapid decline 6-18 mo with loss of use of hands,
sterotyped hand-wringing behaviors, lose ability to communicate / socialize
Holt-Oram syndrome: abnormalities in upper extremities, hypoplastic radii, thumb
abnormalities, cardiac abnormalities. May be missing pectoralis major muscle too.

Sex Chromosome Disorders

Klinefelter Syndrome (XXY): behavior problems (immaturity, insecurity), developmental
delay (speech, language, lower IQ), gynecomastia, hypogonadism, long limbs. Often
undiagnosed until puberty. T replacement can allow for more normal adolescent development
(but azoospermia is the rule); also incr risk breast cancer!
XYY males: classically juvenile delinquents (explosive tempers), severe nodulocystic acne,
mild pectus excavatum, large teeth, prominent glabella, relatively long face / fingers, poor fine
motor skills (penmanship), low-normal IQs. Long, asymmetrical ears. Tend to be taller than
peers, aggressive starting at age 5-6
Turner syndrome: primary amenorrhea, short stature, hypertension (horseshoe kidney),
coarctation of the 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
Potter sequence: lack of nl infant kidney fxn --> reduced urine output --> oligohydranmios -->
deformities: wide-set eyes, flattened palpebral fissures, prominent epicanthus, flattened
nasal bridge, micrognathia, large, low-set ears

Storage disorders

Deficient/ builds up



(a GM2

Aut-rec, esp Ashkenazi Jews. Normal-appearing at

birth, then progressive developmental deterioration,
not looking at parents, increased startle. Cherry-red
spots in macula, sensitive to noise.


A&B (a GM2



Normal-appearing at birth, then hepatosplenomegaly,

LAD, psychomotor retardation in first 6 mo, then
regress more



Increased tone, strabismus, organomegaly, FTT, several

years of psychomotor regression before death.
Classically can see flask-shaped bones, eg. femur, on xray



Early in infancy: irritability , hypertonia, optic atrophy,

severe delay & death in first 3 years of life



Older childhood: angiokeratomas in bathing trunk

area; severe pain episodes, acroparesthesias
(numbness / tingling in extremities), can have cataracts too



A mucopolysaccharidosis. coarse facies, corneal

clouding, kyphosis, hepatosplenomegaly, umbilical
hernia, congenital heart disease. Aut-rec



A mucopolysaccharidosis. Like Hurlers but X-linked &

no corneal clouding

Cherry red spot: think GM2 gangliosidoses (Tay-Sachs, Sandhof) or Niemann-Pick

Represents center of normal macula surrounded by lipid-laden gangion cells.


Metabolic disorders
When these kids get sick, give them glucose (they go crazy catabolic & all kinds of stuf builds
up--> big time high AG met acidosis, and they get in trouble fast).

(a disorder of

Presents in first weeks of life (formula /

breast milk) FTT, dehydration, listlessness,
irritable, jaundiced (indirect hyperbili),
elevated LFTs, hypoglycemia, normal
serum ammonia, mouse-like urine odor.
Also may have cataracts, ascites.

PKU (a
disorder of
amino acid

Sx develop in childhood (unlike other AA

Moderate-severe MR, hypertonia,
tremors, behavioral problems. Light
complexion, fair skin, blonde hair
(tyrosine needed for melanin!) mouse-like
urine odor. If mom has PKU & isnt
managing her diet, baby can have MR, CHD,

no sx in infancy but look like Marfans.
ia (d/o of
Vascular thromboses --> childhood
amino acid
stroke, MI

(AA / urea
cycle disorder)

Most commonly deficiency in

galactose-1-P uridyl
Higher risk for e. coli sepsis.
Tx: remove galactose from

Deficiency in phenylalanine
hydroxylase (cant convert
phenylalanine to tyrosine).
Neonatal screened. Tx:
restrict phenylalanine

Cystathione synthetase
deficiency (cant convert met
to cys/ser). Dietary
management hard (low
protein, foul tasting). 50%
respond to high dose

Presents 24-48h after proteins introduced

in feeds - lethargy, coma/seizures, high

X-linked OTC deficiency.

Urea cycle problem (ornithine
+ carbamylphosphate -->
citrulline in mito). Cant make
Can measure level of orotic acid (byproduct urea = ammonia builds up!
of carbamoylphosphate metabolism) in urine Tx: very low protein diet
to help dx
(but really hard)

Glycogen storage diseases: all aut-rec, growth failure, hepatomegaly, fasting

Type I: von Gierke, type II: Pompe, type V: McArdle
Treat: prevent hypoglycemia while simultaneously avoiding even more glycogen

Other Inherited Disorders

Autosomal Dominant







80% new mutations;

proximal limb shortening

Adult polycystic
kidney dz



Renal cysts, intracranial aneurysm




Deficiency of C1 esterase inhibitor; episodic



8p, 14q ANK1

Osmotic fragility test; some aut-rec variants

too, spherocytes & anemia

Marfan syndrome



Aortic root dilatation, tall stature,

hyperextensible long tapering fingers, etc.




50% new mutations;

caf au lait spots

Protein C deficiency



Hypercoagulable state

Tuberous sclerosis



Ash-leaf spots; seizures

von Willebrand



Abnormal platelet fxn & reduced factor

VIII, ristocetin cofactor assay

Autosomal recessive



Congenital adrenal



Multiple types - salt-wasting,

virilization, etc.

Cystic fibrosis

7q, 19q


Caucasians; pancreatic insufficiency,

lung dz, etc.




Carbohydrate metabolism

Gaucher disease



Ashkenazi Jews. Lysosomal storage


Infantile polycystic

6p (or 16p
= PKD1,


Renal and hepatic cysts, hypertension




Amino acid metabolism disorder

Sickle cell disease



Incr. in AA. Sickle crises,


autosplenectomy, etc.
Tay-Sachs disease



Ashkenazi Jews. Lysosomal storage


Wilson disease



Defective copper excretion chorea,


X-linked recessive
Bruton agammaglobulinemia

Absence of immunoglobulins; recurrent infections

Chronic granulomatous disease

Defective killing by phagocytes; recurrent infections

Color blindness
Duchenne muscular dystrophy

Proximal muscle weakness; Gower sign


Oxidant-induced hemolytic anemia deficiency, incr. in


Hemophilias A and B

Factor VIII / IX deficiency

Lesch-Nyhan syndrome

Purine metabolism disorder; self-mutilation

Ornithine transcarbamylase

Urea cycle disorder; hyperammonemia

Imprinting (or from uniparental disomy) - the 15q11-13 disorders

Prader willi - missing the Parental copy.
almond shaped eyes, down-turned mouth, small hands/feet, short stature,
hypogonadotropic hypogonadism, incomplete puberty, hypotonia (FTT in
infancy), then uncontrollable appetite --> severe central obesity (lock the
food away!). OSA, pickwickian syndrome can result.
mild MR with characteristic impulse control too
AngelMan syndrome: missing the Maternal copy.
maxillary hypoplasia, large mouth, prognathism, short stature.
Severe MR with impaired / absent speech & inappropriate paroxysms of
Jerky arm movements, ataxic gait, tiptoe walk = happy puppet syndrome

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)


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

Contraindicated for breast-feeding mom

Most antibiotics except for tetracycline

Sedatives, narcotics (but monitor for

Lithium, cyclosporin, antineoplastic agents, illicit

drugs, ergotamines, bromocriptine (suppresses
lactation), tetracycline

Galactosemia: deficiency of uridyl transferase; results in jaundice, hepatosplenomeg,

vomiting, hypoglycemia, sz, lethargy, irritibility, poor feeding & FTT, aminoaciduria, liver
failure, MR, incr. risk E. coli sepsis
Sx when taking milk; manage with lactose-free formula like soy milk


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).
Dx: blood lead level. Also stored in bone (lvls can rise after chelation as Pb
released from bone!)


Education, environmental eval, etc.
Chelation if Pb > 45 (DMSA/succimer or CaEDTA).
Hospitalize & chelate if BLL > 70. Admit if symptomatic

(cholinesterase inhibitors) - insect sprays, etc

DUMBBELS (diarrhea/defecation, urination, miosis, bradycardia, bronchorrhea,
emesis / excitation of muscles, lacrimation, salivation)
Tx: Atropine (anticholinergic), Pralidoxime (regenerate cholinesterase)

Orellanin Toxin found in Cortinarius spp of mushrooms

Nausea, vomiting, diarrhea with renal toxicity a few days later

Polychlorinated biphenyls; cross placenta / go to breast milk, ? cause behavioral

probs later


Headache, agitation, seizure, dysrhythmia, severe metabolic acidosis

Mercury elemental


No sx if just a small bit (thermometer)

GI complaints if elemental, ingested
GI, fever, chills, H/A, vis changes, pneumonitis, chest pain if elemental inhaled.
(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


(felt, mad hatter)

Gingivostomatitis, tremor, neuropsych disturbances


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


Smaller kids: CNS sx predominate (drowsy, lethargic, coma, seizures)

Older kids: Cardiac sx predominate (wide QRS, bundle branch blocks)
Tx: admit to ICU, give TCA Fab fragments if available


Nausea, vomiting, diaphoresis over 24-48h

Peak liver function abnormalities in 2-3 days; either recover or get worse in 2-3
Treat with n-acetylcysteine


atropine, 1st generation antihistamines, etc.

Mad as a hatter, red as a beet, blind as a bat, hot as a hare, dry as a bone
Tx: physostigmine in select cases. Use activated charcoal


lethargy, irritability, confusion, dizziness, H/A, cyanosis, palpitations

Dx: blood carboxyhemoglobin levels. See met acidosis with normal PaO2
on blood gass, also myoglobinuria)
Tx: oxygen (normobaric 100%, hyperbaric if available for severe poisoning)



Antifreeze, radiator fluid, etc. Anorexia, vomiting, lethargy.

Check serum level, high AG met acidosis. envelope-shaped calcium oxylate
crystals in U/A
Treat with fomepizole (blocks metabolism), can use NaHCO3 to correct met


N/V, inebriation, increase in minute ventilation as met acidosis develops, blurred

Get serum methanol level; high AG met acidosis
Treat with ethanol to block metabolism, NaHCO3 to correct met acidosis


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




Vitamin A

Night blindness, xeropthalmia (dry

eyes), keratomalacia (dry cornea),
conjuncitivitis, poor growth, impaired
resistance to infection, abnormal
tooth enamel development

Increased ICP, anorexia,

carotenemia, hyperostosis
(pain, swelling of long bones),
alopecia, hepatomegaly, poor

Vitamin D

Rickets (elevated serum phosphatase

levels before bone deformities),
osteomalacia, infantile tetany. See
low 24OHD, low Ca, elevated alk phos,
poor bone mineralization, increased fx
risk. Usually normal serum Ca, but
low serum phos.

Hypercalcemia, azotemia,
poor growth, N/V/D, calcinosis
of a variety of tissues, including
kidney, heart, bronchi, stomach

Vitamin E

Hemolytic anemia in preemies


Vitamin C
(ascorbic acid)

Scurvy, poor wound healing

Can predispose to kidney

stones (calcium oxalate). Also
diarrhea, cramps

Thiamine (B1)

Beriberi (neuritis, edema, cardiac

failure), hoarseness, anorexia,
restlessness, aphonia



Riboflavin (B2)

Photophobia, cheilosis, glossitis,

corneal vascularization, poor growth



Pellagra (dementia, dermatitis,


Nicotinic acid = flushing,



Infants: irritability, convulsions,

Older patients on isoniazid:
dermatitis, glossitis, cheilosis,
peripheral neuritis

Sensory neuropathy,
also fever & pain


Megaloblastic anemia, glossitis,

pharyngeal ulcers, impaired cellular

Usually none


Pernicious anemia, neuro

deterioration, methylmalonic



Rarely depression, hypotension,

muscle weakness, abdominal pain



Dermatitis, seborrhea, anorexia, mm

pain, pallor, alopecia


Vitamin K

Hemorrhagic manifestations

Water-soluble forms can cause


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
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


irregular long bone mineralization but normal Ca/phos/alk phos levels.


Comparison of Ca/Phos/PTH disorders


resistant rickets







Genetic problem in tubular reabsorption of

phosphate = pee it out, low in blood; also
abnormal 25vitD-1,25 convers.
X-linked dominant (family history of fx, low bone
calcium density)




AKA Albright hereditary osteodystrophy, like

hypoparathyrodism with high PTH. Also obesity,
brachydactaly of 4th/5th digits, cataracts,
calcifications in brain (periventricular & in basal




blue sclera, easily broken bones - abnormality in

production & composition of bone matrix with
normal ca/phos



High LOW

unusual outside of neonatal period - low PTH -->

reduced bone resorption, reduced excretion of phos
& reduced 1,25vitD formation in prox tubule = low
Ca, High phos. Can see numbness, tingling,
seizuers / tetany

Medullary thryoid



MTC may make calcitonin but normal

ca/phos/PTH unless MEN type II (with associated


(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,
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,
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



Also place NG tube to decompress; get cx and initiate IV abx

(sepsis workup)

Surgery: get an appendectomy & fix bowel to abdominal wall

Pyloric stenosis: increasing projectile emesis (nonbilious) with olive shaped abdominal
mass, visible peristaltic waves; labs have hypochloremic metabolic alkalosis
4x more common in males, 1st born kids; presents in 3rd-8th wk life. Associated with
dx: can confirm with abd U/S. Upper GI shows string sign (thin line of contrast going
through stenosis)
Treatment: NG placement; correct dehydration / alkalosis / etc. Pyloromyotomy when
Appendicitis: classically abdominal pain followed by nausea / vomiting; periumbilical to RLQ
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,
Gastric lavage can help determine if upper GI & brisk (prox to ligament of Treitz) or lower GI in
bloody stools.

Classic findings for abdominal pain (infants, young kids):


Signs, sx


Recurrent abd pain with emesis


RLQ pain with guarding & rebound


Diarrhea (+/- bloody), fever, vomiting


RUQ pain

Diabetes mellitus

Polys + weight loss


Purpuric lesions, joint pain, blood in urine, guiac + stools


RUQ pain & jaundice

inguinal hernia

Inguinal mass, lower abd / groin pain, emesis


Colicky abdominal pain, currant jelly stools

Malrotation with

Abd distention, bilious vomiting, blood per rectum, presenting in infancy


Hematuria, colicky abdominal pain



Severe epigastric abd pain with fever, persistent vomiting


Fever, cough, rales


Emesis, often hx prior abdominal surgery

Strep pharyngitis

Fever, sore throat, headache

Testicular torsion

Testicular pain, edema

Urinary tract

Fever, vomiting, diarrhea in infants; back pain in older kids

Tracheo-esophageal fistula:
most commonly involves esophageal atresia (blind pouch) with esophagus coming of 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
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).
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 /


Dx with Tec-99 scan (labels gastric mucosa), fix with surgical excision.
Overweight Syndromes:
Prader-Willi: hypotonia, hypogonadism, hyperphagia after newborn period, MR,
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

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 & stuf
adhesions between glans / prepuce lyse within first 3 years of life in 90%, glans
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,
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

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
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 in SE asia because of more cis mutations.

If 3 mutations, HbH disease (4 B chains) after first few months of life.

if 2 mutations, alpha-thal minor (a little extra HbA2, HbF)

if 1 mutation, silent carrier

Beta-thal: deletions of beta gene.

if homozygous, beta-thal major (severe hemolytic anemia,

splenomegaly, frontal bossing, prominent cheekbones, FTT, etc; death if not
transfused a lot - but that has its own bad parts, like iron overload).

If heterozygous, beta-thal minor (hypochromia, microcytosis, but not

really bad anemia; elevation of HbA2 level).
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
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
Autoimmune: idiopathic, postinfectious (Mycoplasma pneumoniae, EBV), druginduced (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.
Intracorpuscular: membrane defect
Hereditary spherocytosis: Aut-dom defect in ankyrin, spectrin proteins that
support membrane. microspherocytes. Destroyed in microvasculature of spleen.

Positive osmotic fragility test and unconjugated


Sx: Can range from asx to chronic transfusion requirement.

Gallstones, cholycystitis, splenomegaly, pallor common. Susceptible to
aplastic crisis.

Tx: folic acid supplementation (making lots of RBC!), transfusion as

needed, splenectomy after 6 y/o
Sickle cell disease: Val for glutamate in 6th AA of beta-globin chain.

Dx with Hb electrophoresis.

Infancy: pallor, jaundice, splenomegaly, systolic ejection murmur.

Dactylitis (avascular necrosis of MCP/metatarsal bones, painful) at 4-6 mo
of age.

Childhood: delayed sexual development, splenic sequestration,

aplastic / hyperhemolytic crises, auto-infarction of spleen eventually.
Priapism in ages 6-20.

Adolescence: avascular necrosis of femoral head.

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.

Oxidative stress (sulfonamides, nitrofurantoin, primaquine,

dimercaprol) --> globin precipitates as Heinz bodies, damaged cells
removed by RES / bite cells can form as heinz bodies eaten by RES cells.

Classic pres: episodic, stress / drug induced hemolytic anemia.

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

Megaloblastic macrocytic anemia with decreased RBC production
B12 deficiency: B12 found in fish, meat, cheese, eggs. Combines with IF frmo gastric
parietal cells, absorbed in terminal ileum. Can be due to dietary deficiency (rare except
for in breast-fed babies of vegan moms), congenital or juvenile pernicious anemia (IF
deficiency), ileal resection, small bowel overgrowth, Diphyllobthrium latum (fish
Glossitis, diarrhea, weight loss; paresthesias, peripheral neuropathies,
post. column degeneration, dementia, ataxia; also vitiligo. See
hypersegmented PMNs, howell-jolly bodies, nucleated RBC, megaloblastic RBC.
Dx with low B12; can diferentiate cause with Schilling test
Treat with monthly IM B12 (should see reticulocytes within 3 days, anemia better
in 1-2 mo)
Folate deficiency: found in liver, green veggies, cereal, meat/cheese with small
stores (can get deficient in 1 month). Inadequate intake (goats milk, evaporated milk,
heat-sterilized milk), impaired absorption (jejuanal processes - IBD, celiac), increased
demand (hypethyroid, pregnancy, malignancy), drugs (phenytoin, phenobarb)
Glossitis, pallor, malaise, but no neuro deficits. Low RBC folate, normal B12.
Same changes as B12 on peripheral smear.
Treat with folate 1mg PO x 1-2 mo with rapid clinical response - note that folate
will correct the anemia of B12 deficiency, but wont fix neuro problems!
Megaloblastic macrocytic anemias
Diamond-Blackfan Syndrome: congenital pure red blood cell aplasia, aut rec or aut
Anemia shortly after birth, macrocytic with reticulocytopenia.
See elevated HbF, fetal i antigen on RBC.
Also a/w short stature, web neck, cleft lip, shield chest, triphalangeal
thumb (kind of reminiscent of Turner syndrome).
Tx: high dose corticosteroids (indefinitely) - 75% respond, others need frequent
transfusions. Some can have BMT from matched sibling donors
Severe aplastic anemia: chemicals (chloramphenicol), hepatitis virus, ionizing radiation,
Need BMT from matched sibling. Might be able to use antithymocyte /
lymphocyte globulin, corticosteroids, G-CSF for some.
Fanconi Anemia: aut-rec disorder. Typical presentation ~ 8y/o with progressive


A/w pigmentary changes (cafe-au-lait), skeletal (microcephaly) / renal /
developmental abnormalities, absent thumbs, horseshoe / absent kidney
Defect in DNA repair --> too many breaks / recombinations. Increased risk of
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
Characteristic smear findings
Howell-Jolly bodies - seen in asplenic patients (small bits of nuclear renmants in
Target cells - seen in alpha-thal, HbC disease, liver disease (too much membrane;
resistant to osmotic fragility
Spherocytes - seen in hereditary spherocytosis; fragile, can use osmotic fragility
Kids are anemic with hyperbilirubinemia & reticulocytosis, or can present in
adult hood with symptoms. Hepatosplenomegaly & gall bladder dz most
common sx after infancy.
Babies with anemia
Fetomaternal transfusion: consider in kids who are anemic shortly after birth with
no Rh or ABO incompatibility with mom, as well as normal reticulocyte count. Can
do Kleihauer-Betke stain for fetal hemoglobin-containing BCs in moms blood to diagnose
Physiologic anemia of infancy: erythropoesis ceases after birth; Hb values decline,
nadir at 6-8 weeks
Iron deficiency: consider in term infant between 9-24 months (iron stores from
circulating hemoglobin exhausted; shows up now if no good iron source provided).
Sickle cell anemia: usually 4-6 months (when fetal Hb pretty much all replaced by
adult / sickle Hb)


Can see with ITP (below)

HIV, EBV infection can cause
Drugs: PCNs, TMP-SMX, dig, quinines, cimetidine, benzos, heparin; also MMR vaccine.
Neonatal isoimmune thrombocytopenic purpura: Moms IgGs can cross placenta,
destroy fetal platelets --> treat with IvIg / corticosteroids after birth until maternal ab
TTP: lack of ADAMTS 13 (vWF-cleaving protease) --> big, multimeric vWF forms -->
increased platelet aggregation, thrombocytopenia. also hemolytic anemia, fever, renal
involvement, neuro problems
HUS: after Shigella or E. coli O157:H7 - microangiopathic hemolytic anemia, renal
cortical injury, thrombocytopenia from platelet adhesion to injured vascular


endothelium; may need temp dialysis

Immune Thrombocytopenic Purpura:
Often post-viral, can also be due to MMR vax, drugs, HIV. Think petichiae in wellappearing kid with recent febrile illness (HSP: sick looking!)
plt < 20,000, bruising / petichiae w/o hepatosplenomeg / LN involvement.
Labs: get a blood smear. On CBC, Hb, hct, wbc, dif are normal
Most serious complication = intracranial hemorrhage (but rare);
Treatment is controversial (no good improved otucomes), but may use IVIG to decrease
platelet destruction, IV-anti-D therapy, 2-3 wks of systemic corticosteroids. splenectomy
if serious complications (but then no spleen = more infections = need pneumovax, PCN
Thrombocytopenia-absent-radius: Thrombocytopenia, bilateral absence of radius,
abnormally shaped thumbs; can have TOF/ASD; 40% die from bleeding from low platelets in
neonatal period.

Coagulation cascade defects

Hemophilias: indistinguishable clinically. Severity depends on degree of factor deficiency. Mild
(5-49% normal factor) = need significant trauma for bleeding; moderate (1-5%) require moderate
trauma; severe (<1%) have spontaneous bleeding. hemarthroses are sterotypical. Give
factor concentrates, but can develop inhibitors (IgG against transfused factors, makes
treatment difficult). . Both x-linked rec.
Hemophilia A: Factor VIII deficiency, can use DDAVP (releases factor VIII from
endothelial cells)
Hemophilia B: Factor IX deficiency, DDAVP has no efect
Von Willebrand Disease: deficiency of vWF; both connects subendothelial collagen to
activated platelets & binds to circulating factor VII, protecting it from clearance. Multiple types.
Looks like thrombocytopenia (mucocutaneous bleeding, epistaxis, gingival bleeding,
cutaneous bruising, menorrhagia) but also low factor VIII (PTT and bleeding time are
both abnormally long)
Ristocetin cofactor assay good for function, also PFA-100 (platelet fxn analyzer)
Use DDAVP to simulate vWF release from endothelial cells; may also need cryoprecipitate
(but cant be virally attenuated, so give HBV vax first)
Vitamin K deficiency: II, VII, IX, X and proteins C/S need vitamin K.
Cystic fibrosis or abx-induced suppression of intestinal bacteria (which produce
vitamin K)
Hemorrhagic disease of the newborn can happen if no IM vitamin K given at birth
Coagulopathies: Factor V Leiden, prothrombin 20210A, protein C/S deficiencies
increase thrombosis risk

Jaundice & bilirubin

Neonatal jaundice: for full-term infants, peaks at 5-6 mg/dL Tbili between 2nd and 4th days


of life
If in 1st 24h, work up: erythroblastosis fetalis, hemorrhage, sepsis, CMV, rubella,
congenital toxo
Can cause kernicterus if unconj bili too high
sepsis-like sx, apsphyxia, hypoglycemia, intercranial hemorrhage
Deposits in basal ganglia; increased in immature / sick infants, also with SMX
(displace from alb), acidosis (reduces bilirubin binding), sepsis (blood-brain barrier
more permeable), hypoalbuminemia (less albumin to bind)
Phototherapy converts unconj bili into extractable form.
If no hemolysis, phototherapy for Tbili 16-18 @ 24-72h, Tbili >20 at >72h
Dont do phototherapy for conjugated hyperbili (will bronze the skin & not
Exchange transfusion rarely needed (if no response to conservative measures)
Use nomograms / risk stratification curves to guide therapy.
Breastfeeding Jaundice: manifests in first week of life (4-7d)
caused by insufficient production or intake of breast milk --> not enough stimulation
of bowel movements to remove bilirubin from body
Breast Milk Jaundice: 2% breast fed full-term infants get high (up to 30 mg/dL) unconj bili
Happens after 7th day of life; will decrease gradually if breast feeding continued
can also pause breast milk for 12-24h (quick lowering of bili), then restart breast feeding
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
Pneumatosis intestinalis on AXR (bacterial gas production in bowel wall) is
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



Poor superoxide

Neutrophils, monocytes cant kill staph aureus,

candida, aspergillus (produce catalase) and GNRs recurrent infections with those organisms.
Get NBT (nitroblue tetrazolium) test.
Give daily TMP-SMX & gamma-interferon ppx


Disorder of

Recurrent sinopulmonary, oropharyngeal,

cutaneous infections (Staph, Enterobacteriacea,
Candida). Delayed wound healing. Failure of
umbilical cord to separate. Neutrophilia (>50k).


Aut-rec or Xlinked
Both humoral &

Decr. serum Ig, T-cells. Thymic dysgenesis

Recurrent cutaneous, GI, pulm infections with
opportunists (CMV, PCP, fungi). Death in first 12-24
mo unless BMT performed


Decreased Tcell production

Recurrent infections (T-cell: think HIV type infections)

Also velocardiofacial manifestations: abnormal facies
(wide-set eyes, prominent nose, small mandible), cleft
palate, VSD / tetFal.
Thymic / parathyroid dysgenesis = hypocalcemia,
seizures. CATCH-22 (cardiac, abnormal facies, thymic
hypoplasia, cleft palate, hypocalcemia on chromosome


poor Ab
response to

X-linked rec with increases in serum IgA, IgE

Classic triad:
1. Thrombocytopenia (15-30k with small plts)
2. Eczema
3. Recurrent infections (Pneumococcal otitis
media, PNA from poor Ab response to capsular
polysacch; fungal / viral by T-cell dysfunction)

XLA: X-linked
mia (Brutons)

Primary B-cell
Presents after 3 months of age (moms Ab go away)
deficiency (all 3 Recurrent / simultaneous bouts of otitis media,
classes of Ab
PNA, diarrhea, sinusitis at diferent sites but not
fungal or viral infections


Humoral / Bcell

Hypogammaglobulinemia (low IgA, IgG); inherited

disorder; less severe infections than XLA

Selective IgA


Mildest, most common immunodeficiency. Normal

levels of other antibody classes. viral response OK but


susceptible to bacterial infections of resp, GI,

urinary tracts
Job syndrome

disorder of

Elevated IgE, eczema-like rash, recurrent, severe

staph infections


humoral & CMI

immunodeficiency, cerebellar ataxia,

oculocutaneous telangiectasia - most pts wheelchair
bound by puberty, die prematurely

C5-C8 (terminal
C) is classic

N. meningitidis infections!
Also higher risk of rheumatologic disease


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
Type IV / V

e.g. amox allergy, also after

adeno, EBV, other viruses
Tx: Stop abx, can give
antihistamines if required


maculopapular, coalescing
rash, especially truncal /


Immediate erythema,
vasodilation, raised
lesions with central
clearing & serpiginous
border, dermographia,
transient / evanescent
(gone in 30m), move

Type I
y (mast cells,

Fixed, targetoid, acral

lesions; center can look
necrotic. Palms / soles
too, can have arthralgias.
7-10d after exposure (not

Type III
y (antibodies!)
Can also be
from HSV

Can deposit in joints, wont

Serum sickness is a more
systemic form


SJS if < 10% body surface,

overlap if 10-30%, TEN if >
Drugs can trigger, also


8-10% mortality. Give steroids,




Big bullae, big, flat

macular lesions, then
bullae, involves mucous
Drug eruption with

e.g. immediate drug

eruptions, can also be viral (&
last for weeks!). Food, new
exposures are less common
Tx: stop abx, antihistamines


eosinophilia & systemic

Papular, follicular rash;
eosinophila, leukopenia; can
get hepatitis, pneumonitis,
leaky capillaries -->


HHV-6, sulfonamides key

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.
If voice is changing, worry about the airway! Establish the ABCs before everything
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
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
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
HPV: 6,11 cause warts; 16,18 cause cervical cancer
LGV: Painless genital papule --> resolves --> unilateral draining inguinal
caused by C. trach serotypes; can be culured; also serologic testing
Chancroid (H. ducreyi): small papules on genitalia, perineum --> pustular --> erode -->
ulcerate; at the same time (not after like LGV) develop painful tender inguinal
lymphadenopathy (you do cry)
Get PCR or DFA. Hard to culture; can use chocolate agar but only 65% sensitive
Syphilis: spirochete T. palladium, dx with RPR / VDRL (but high false-pos) confirmed with FTAABS
Stage 1: primary syphilis. See chancre (well demarcated, firm, painless ulcer with
indurated base). Heals spontaneously within 3-6 wks (may not seek medical attn)
Stage 2: secondary syphilis (1/3 untreated pts). dissemination --> erythematous
rash on palms / soles & condyloma lata (wart like lesions on genitals)
Stage 3: tertiary syphilis: gummas (granulmoatous lesions) in skin, bone, heart, CNS
Tabes dorsalis & general paresis can occur, as can aortic aneurysm of asc.
Treat with penicillin G (IM or IV) for any stage.
HSV: usually type 2. 5-14d incubation, then genital burning, itching --> vesicular,
pustular lesions that burst, painful shallow ulcers that heal without scarring. Can lay latent
in ganglia, recur.
See giant multinculeated cells on Tzanck testing; also PCR / DFA available.
Oral acyclovir can diminish length of sx / shedding but dont eradicate; can be used as
ppx to reduce frequency of recurrences but doesnt work as tx of recurrent episodes.
Neonatal herpes: think vesicles on face, lymphocytic meningitis (red cells,
lymphocytes, protein elevated; glucose low-normal), thrombocytopenia with CNS
infection signs (fever, irritibility, etc). HSV encephalitis in neonates = difuse EEG
changes, often serious neuro sequelae (majority), 30% mortality.
More likely with primary maternal HSV infection; most often HSV-2.
Get CSF HSV PCR & treat with IV acyclovir.
If mom has hx genital herpes, and if prodromal sx or herpetic lesions present at
labor, do a C-section
If a neonate has rash c/w herpes, hospitalize! (even if in diaper area)
Vaginal infections:
Trichomoniasis (T. vaginalis) - protozoa - malodorous frothy gray dsicharge, vaginal
dyscomfort. See trichomonads on wet prep. Tx with metronidazole BID x 7 d along
with sex partners
Bacterial vaginosis (Gardnerella vaginalis, others). Thin, white, foul-smelling
discharge that emits fishy odor when mixed with KOH (whif test). Sexually active


female, see clue cells on wet prep (squamous epithelial cells with smudged borders from
adherent bacteria). Tx w/ metronidazole BID x 7d
Vaginal candidiasis: not an STI; increased with abx use, pregnancy, diabetes,
immunosuppresion, OCP use. See yeast and pseudohyphae on wet prep / KOH; use oral
fluconazole or OTC antifungal creams.


Congenital Infections: TORCH (Toxo, Other - VZV / syphilis, Rubella, Cytomegalovirus, HSV)




developmental delay, IUGR

(microcephaly), cataracts, seizures,
hepatosplenomegaly, prolonged
neonatal jaundice, purpura at birth.
periventricular brain calcifications.

?Gancyclovir (not great

data). Get newborn
hearing screen (and
repeated evaluations).
Keep away from
pregnant healthcare

Most common if
primary CMV infection
in 1st trimester. (In
reactivation, maternal
IgG crosses placenta /
protects baby)


Same as CMV, pretty much.

pyrimethamine &
sulfadiazine; can use
corticosteroids for
ocular, CNS dz as well.

brain calcifications
scattered throughout
ctx. Only congenital if
primary maternal
infection (cat feces,
undercooked meat)


Eyes: cataracts, retinopathy,

microphthalmia, glaucoma. Ears:
sensorineural hearing loss. Heart:
PDA, peripheral pulmonary artery
stenosis. Skin: blueberry muffin
baby. Also IUGR, hepatomegaly,
thrombocytopenia, interstitial
pneumonitis, radiolucent bone dz

No specific antiviral
therapy available.
babies contagious until 1
year of age.

transplacental viral
transmission. Rare
(MMR vaccine). Dont
give MMR vaccine
during pregnancy
(very low risk but can
get fetal dz).


Disseminated dz in multiple organs

(liver / lungs). HSV-1: localized CNS
disease w/ or w/o sz; HSV-2: often
skin, eyes, mouth.


Most HSV-2 (reflects

genital herpes rates);
infected through vaginal
canal (most is actually


Congenital varicella syndrome if <

20 wks) - limb hypoplasia,
cutaneous scarring, eye / CNS
Neonatal chickenpox if > 20 wks:
generalized pruritic vesicular
rash +- bact superinfection, PNA,
CNS involvement (cerebellar ataxia
& encephalitis), thrombocytopenia

VZ IG: immediately
after delivery if moms
chicken pox starts w/in
5d of delivery, or
immediately on dx if
chicken pox started
within 2d after delivery.
Can give acyclovir x 10
d if acute varicella in 1st
week of life.

Isolate if neonatal
chickenpox (not
congenital varicella


Within 1 month of birth:

hepatosplenomegaly, mucocutaneous
lesions, jaundice, LAD, snuffles
(bloody, mucopurulent discharge).
Longer-term sequelae: saber shins,
anemia, thrombocytopenia,
Hutchinson teeth, deafness, MR.

Get an LP, CSF VDRL to

diagnose, give
parenteral penicillin G
(IV or IM)

Mom with untreated

infection -->
transplacental infection.
Most likely during 1st
year of infection. 50%
die shortly before / after

Also HIV: remember to get PCR, not relying on ab tests in kids who still have moms IgG!.
Early: think PNA (sepsis too)


Later: think osteomyelitis, meningitis, septic arthritis (places where it needs to seed
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

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.

Rashes / etc from infections

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 difuse 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
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),
diferent stages.
7-21d incubation, most contagious just before rash, isolate until all crusted
Vaccine efective. Can give acyclovir if chronic pulm dz, > 12, on salicylates /
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
Difuse 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

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)

If vomiting, arthritis, cardiac dz, neuro involvement - use IV PCN G or

Molluscum: pearly lesions with central umbilication; can be in linear arrangements
Spontaneous resolution over months / yrs; can currette but can disfigure,
HSV: confluent pustules, blisters/cysts, hypopigmented on erythematous base,
often on vermillion border of lip, can be erythematous / edematous
#1 presentation is gingivostomatitis (in anterior mouth); can autoinoculate
If ocular or near eye, get fluoroscene exam for HSV keratitis with optho
Recurs with stress - consider oral acyclovir when just tingling (prodromal phase)
Impetigo: honey colored, friable / crusting lesions; can have bullae / blisters (bullous
Most commonly S. aureus, also GABHS
Tx: keep clean, can use topical abx if local, cephalexin / augmentin / clinda if
Scarlet fever: sandpaper rash, strawberry tongue, desquamation of palms / soles,
palatal petichiae (most sensitive findings), can have purulent pharyngitis or just be
From GABHS. Often have fever, H/A, abdominal pain (classic for strep, very
severe, on api ddx)
Most contagious when in acute phase

Pharyngitis & related stuf:

GABHS strep pharyngitis: sore throat, fever, H/A, malaise, nausea, abd pain. exudative
tonsils, tender cervical lymphadenopathy, may have petichiae on soft palate
Get rapid test (specific; rare false positives, but not great sensitivity - so confirm
negative with cx)
Treat with 10d of oral PCN or IM benzathine PCN G x 1. Can also use erythromycin,
azithromycin, clindamycin if allergic. No resistance to PCN documented.
GABHS associated stuf:
Scarlet fever: erythematous sandpaper rash on neck, axillae, groin, spreads to
extremities, starts along with pharyngitis & can desquamate 10-14d later


Acute rheumatic fever: occurs 1 wk after strep pharyngitis: carditis, migratory

polyarthritis, transient (Sydenham) chorea, erythema marginatum,
subcutaneous nodules; must fullfill Jones criteria: two of above, or one of above major
criteria along with one of fever, arthralgia, elevated CRP/ESR, prolonged PR on EKG. Also
need evidence of recent GAS infection (cx, rapid antigen, ASO titer)
Give PCN ppx to prevent recurrent ARF
APSGN: glomerulonephritis after either pharyngitis or celllulitis with GABHS
Not afected by timely abx therapy
10 days after infection: see hematuria, edema, oliguria, HTN with low C3
Give PCN & diuretics; steroids dont help, most recover just fine.
Neck abscesses:
Retropharyngeal abscess: usually in toddler < 4y: odynophagia, fever, posterior
pharyngeal swelling,
Passively refuses to move neck 2/2 pain - more likely retropharyngeal
can spread to mediastinum (bad news)
Peritonsillar abscess: any age, but often in adolescent / young adult; most common
abscess in peds pts
Sore throat, odynophagia; trismus (refusal to open mouth) more common than
Get lateral cervical x-ray
etiologies: strep pyogenes, staph spp, h. flu, peptostreptococcus, bacteroides,
Often polymicrobial
Can also be viral (EBV, CMV, adeno, rhino)
Treat with IV PCNs, 3rd gen cephalosporins, or carbapenems
add clinda or metronidazole if concern for anaerobes as well
DDx also includes thryroglossal duct cyst (midline, moves with mouth opening) or 2nd
brachial cleft cyst (lateral)
Tooth abscess: can be strep mutans, fusobacterium.
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)

Otitis & related conditions

Common AOM organisms: S. pneumo, nontypable H. flu, M. catarrhalis.
S. aureus, E. coli, klebsiella, Pseudomonas if neonate or immunodeficient
Viruses too; etiology often unknown.
Treat: high dose amox --> augmentin in 3d if no improvement
May need tympanocentisis, cx of middle ear fluid if treatment resistant.
If a young child (e.g. 1 mo), with AOM, need to admit to hospital for sepsis workup
(if feverish, irritable, diarrhea, etc)
Otitis externa (Swimmers ear) - often Pseudomonas or other GNRs, S. aureus,
occasionally candida / asperg.


Consider in kid who was at summer camp, exposed to water, etc.

Treat: topical polymyxin / corticosteroids mixture
Mastoiditis: Pinna pushed forward, fever, ear pain, swelling/redness behind ear after AOM
Dx: get CT for confirmation. Tx: myringotomy, fluid cx, parenteral abx (surgical
drainage if no improvement in 24-48h)
Cholesteatoma: congenital or acquired (eg recurrent otitis); small sac with epithelium
containing debris.
Whitish mass protruding through tympanic membrane seen on otoscopy
Can cause CNS complication / grow aggressively - refer to ENT, CT temporal bones.

Respiratory infections

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.
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 contacts irrespective of their immune
neonatal immunity not dep. on moms immune status (transplacental Ab not 100%
natural immunity is lifelong, but immunity from vax declines with age (use Tdap
instead of Td)
If exposed, give erythromycin to prevent / lessen severity of disease (in
preparoxysmal stage)
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%
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
Bronchiolitis: viral LRTI infection, usually RSV (also paraflu, hMPV, flu, adeno) between Nov &
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,
CXR: hyperinflated, peribronchial thickening (cuffing), increased interstit.
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

Enterobacteriaceae, GBS are big two

Also S. aureus, S. pneumo, Listeria

First few months

C. trachomatis (staccato cough, tachypnea, +/- conjunctivitis or

maternal hx; eosinophilia, bilateral infiltrates with hyperinflation,
may be afebrile)
Viral PNA: HSV (most concerning; think acycolvir!), enterovirus,
influenza, RSV

A few months - 5

Viral PNA is big: adeno, rhino, RSV, flu, paraflu

Bacterial: think S. pneumo, non-typable H. flu

> 5 yrs

Mycoplasma is most common - think azithromycin or

Could also be most of the above, except listeria & GBS

ICU / intubated

Consider pseudomonas & candida

Chronic lung dz

Think pseudomonas, aspergillus

Other clues:

Typical rash - think varicella

Retinitis - think CMV


Stagnant water - think Legionella

Refractory asthma or fungal ball - think Aspergillus
Travel to southwest - Coccidiodes immitis
Travel to or working on farm - Coxiella brunetti
Spelunking, working on farm east of Rocky Mtns - Histoplasma

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 efusion
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!)

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,
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
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

Organisms by age of patient:
< 1 mo

Seeding from mom: GBS, E. coli, GNRs, HSV, Listeria. Also strep. pneumo

1-2 mo

E. coli, S. pneumo, enteroviruses, HiB, GBS


S. pneumo, N. meningitidis, enteroviruses, borrellia burgdorferi, HiB


S. pneumo, N. meningitidis, enteroviruses, borrellia burgdorferi

Rarely could be due to TB, EBV, bartonella, cryptococcus too

N. meningitidis: may see petechial / purpuric rash as well.
CSF in meningitis





> 1,000

> 75%

Very high

Very low


< 500

< 50% (more lymphs)

Normal / high



< 100

< 30% (lots of monos)

Normal / high


Meningitis treatment (if bacterial)

Most kids: Vanc + ceftriaxone; use steroids too
Neonates: ampicillin (GBS, Listeria) & ceftriaxone (GNRs)
Start with above empiric treatment for 10-14d; narrow with cx
Treat meningococcal dz for 5-7d, Lyme for 14-28, and neonates for 14-21
10% of kids have persistent neuro deficit (hearing loss, dev delay, motor probs, sz,
LP: contraindications include increased ICP in patient with closed fontanelle (can
herniate), severe cardiorespiratory distress, skin infection at puncture site, severe
thrombocytopenia or coagulation disorder (oozing IV, venipuncture sites).

Gastroenteritis (bacterial)
note: enteritis = small bowel, colitis = large bowel
Salmonella: aerobic GNR, motile, no lactose fermenting, more common in warmer
gastroenteritis, meningitis, osteomyelitis, bacteremia = non-typhoidal

Gastroenteritis: nausea, emesis, cramping abd pain, watery/blood

diarrhea, sudden


Typhoid fever from salmonella typhi too

Need to ingest many organisms = person-person unlikely
Can have some neuro sx with gastroenteritis
no abx for salmonella! can increase risk of HUS. But treat if
immunocompromised / < 3mo (higher risk of disseminated disease)
Shigella: small GNRs, nonlactose fermenting, motile
more common in warmer months / first 10 years of life (peak 2-3 yrs)
Only takes a few organisms (person-person trans via food, water)
Cramping abd pain, watery diarrhea progressing to small, bloody stools, anorexia

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
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
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

Microthrombi, microvascular endothelial damage, microangiopathic

hemolytic anemia & consumptive thrombocytopenia; also renal
glomerular disease

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.









Most asx.
Hemoptysis, pulm

Stool: see



infiltrates, abd
pain, distension,

adult worms in
stool or
coughed up

pyrantel pamoate,
piperazine to clear

Ovoid eggs in

pyrantel pamoate,
also iron




Pruritis, rash @
entry site.
Epigastric pain,
diarrhea. Anemia
from blood loss,
resp sx



Ingestion of

perianal itching

Tape test
(O&P not

Pyrantel pamoate,


skin, to
lungs, to
can go back
& forth

Epigastric pain,
emesis, diarrhea,
malabsorption, wt

Larvae in
feces, or
string test to
duodenal fluid



Visceral /
ocular larva






Egg ingestion
with dog/cat
feces) - kid
eating dirt!

Fever, cough, abd

ronchi, wheezing,
skin lesions,

Clinical pres,
microscopy of

Visceral: self
limited. Ocular:
ne, albendazole,
mebendazole (but
all drugs can cause

Egg ingestion

Proctitis, bloody
diarrhea, abd pain,
rectal prolapse

eggs in stool

Mebendazole /

pork, other
raw meat

First wk: abd pain,

N/V, malaise.
Then: muscle
invasion: edema
of eyelids,
myalgia, wknss,

on labs.

Organisms can
become encysted,
stay viable for
years in muscle

Leptospirosis: #1 zoonotic infection worldwide

exposure to dogs, cats, rats, livestock, other wild animals (urine)
Most often subclinical, can also be symptomatic, starting with septicemic phase of
fever, chills, mm pain, pharyngitis, H/A, conjunctival injection, photophobia,
cervical adenopathy, then...
anicteric form - symptoms resolve, then immune phase (meningitic sx return,
can lst for month)


icteric form (Weil syndrome) - severe sx with liver, kidney dysfunction

Treat with PCN, tetracycline (in children 10+)

Sx: fever > 39, vomiting/diarrhea, fussiness in kids
At risk:
Voidingdysfunction (neurogenic, willful/behavioral, pinworm)
Constipation and behavioral problems
Recent antibiotic use
Leukocyte esterase: not specific, low PPV.
Nitrites: very specific (almost definitely a UTI)
Sterile pyuria: fevers, interstitial nephritis, viral infections, appendicitis
Adenovirus can cause a hemorrhagic cystitis
Admit if theyre not taking PO. IV cephalosporin is a first-line choice for meds in that
To work up or not?
Pretty much work up all infants admitted to hospital (RUS to look for
hydronephrosis, presence of kidneys, size, consider VCUG to look for VUR, also
scintigraphy - DMSA to look at renal tubules, or MAG-3 to look at excretion).
Hydronephrosis ddx: UP junction obstruction, uretorocoele (UVJ obstruction),
massive VUR
Cystitis: TMP-SMX, ampicillin, amoxicillin, nitrofurantoin. usually treat if U/A
suggestive; get cx, d/c abx if negative
Pyelonephritis: get oral/IV cephalosporin or IV amp+gent until cx available.
Admit if toxic appearing, cant do PO, or < 6 mo for 10-14d
Brain abscess: consider especially in kids with right to left shunts (eg TetFal).
fever, H/A, lethargic, nystagmus, ataxia, etc - get a CT/MRI
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
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
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

Can give Rx to fill in 48h if no improvement.

Tympanostomy tubes if OME longer than 3 months (risk of delay of language
acquisition, hearing loss), or 4 AOM episodes in 6 mo (or 5 in 12 months)
Mild URI, gastroenteritis, low-grade fever not contraindications
Always contraindication: immediate hypersensitivity
True egg hypersensitivity contraindication for influenza, yellow fever but not MMR
Live vaccines usually not given to pregnant women, severely immunocompromised
HIV + OK if not immunocompromised
Interesting contraindications (outside of the ordinary ones)
DTaP: encephalopathy within 1 wk of previous administration
HBV: anaphylaxis to bakers yeast
MMR: anaphylaxis to neomycin, gelatin; also pregnancy, immunodeficiency
IPV: anaphylaxis to streptomycin, polymyxin B, neomycin
Varicella: anaphylaxis to neomycin, gelatin



Blue, pale


Completely pink



<100 bpm

>100 bpm

(reflex irritability to nose

No response


Cough / sneeze



Some flexion of

Active motion

Respiratory efort

Absent, irregular

Slow, crying


Start bag-valve-mask if no respirations or pulse < 100!

Chest compressions then if HR stays under 60 with 100% O2
Drug therapy (epinephrine) after 30s of compressions if pulse still < 60
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,
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, cafeine 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
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)


IVH (intraventricular hemorrhage) - especially in VLBW babies, first 3 days of life, many
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.
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
Also retropharyngeal abscess, tumors, dystonia, Wilson dz, syringomyelia,
other stuf
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
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
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
HyperMg: common when mom got MgSO4; asx or floppiness
Hct > 65% = polycythemia; get increased blood viscosity

Hypervisocity syndrome: tremulousness, jitters --> sz (sludging,

thrombi); can also lead to priapism, necrotizing enterocolitis, tachypnea,
etc. Dont do phlebotomy (will incr. viscosity by decr. arterial pressure); do
partial exchange transfusion with saline / lac ringers instead (but only if
Hct > 70 or symptomatic)
First week of life:
Lose 1.5-2% body weight per day for first 5 days of life (excess fluid excreted)
Hct falls (adaptation to environment of higher oxygen)
Bili rises, peaks around 3-5 days of life
Several meconium stools in days 1-2, then soft yellow stools
Hypocalcemia in newborns: see tetany, seizures, etc.
Early (first 72 hours) - usually idiopathic hypocalcemia. Can also be 2/2 maternal
illness (diabetes, toxemia, hyperparathyroidism) or neonatal respiratory distress,
sepsis, LBW, hypoMg
Late (after 72 hours) - transient / permanent hypoparathyroidism with high
phosphate intake
Cleft lip / palate: 1:1000 kids; 4% of sibs of afected kids.
Can lead to feeding problems, recurent otitis, hearing loss, speech deficits (even
with good closure)
Usually close lip @ 2-3 mo, then palate between 6mo-5yrs


Twin-twin transfusions: 15% of monochorionic twins; can cause intrauterine death.

Suspect if hematocrits difer by > 15 mg/dL.
Donor twin = lower Hct, can have oligohydramnios, anemia, hypovolemia, shock.
Recipient twin: hydramnios, plethora, larger than donor
Hyperviscosity syndrome if Hct > 65%
Low birth weight: LBW < 2,500g ; VLBW < 1,500; lots of LBW births in USA = why we have
high infant mortality
From IUGR, premature birth, medical causes
Small for gestational age: BW < 10th %ile for gestational age. From IUGR or just
statistically small
Early-onset IUGR: from insult < 28wks gestation. Symmetric: HC, height, wt all
proportional. Mom with HTN, renal dz; infants with chromosomal abnormalities, congenital
Late-onset IUGR: from insult >28wks. Asymmetric: normal HC with reduced
length, weight; weight for height is low, infant looks long / emaciated. Placental fxn
fails to keep up with fetal requirements.
Large for gestational age: >90th%ile or > 2SD. Infants of diabetic moms, neonates with
TGA, erythroblastosis fetalis, Beckwith-wiedemann syndromes. Can also be constitutional
(big parents).
Monitor blood sugar (prone to hypoglycemia); get Hct (prone to polycythemia)
Macrosmotic = > 4,000 (very LGA) - risk of shoulder dystocia, birth trauma, etc.
Postmaturity: > 42wks. Dry, cracked, peeling skin, malnourished appearance common at birth
Can see meconium aspiration / resp depression, PPHN, hypoglycemia, hypoCa,
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
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
Rarely, can see caudal regression syndrome (hypoplasia of sacrum, lower extremities).
Also a/w congenital heart dz, NTD

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
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! (diferent 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)
Meningocoele: just meninges
Spina bifida occulta: bony defect in vertebrae with no herniation of spinal contents.
Chiari II malformation (lower brainstem, cerebellum pushed back) - often need cervical
decompression to prevent cyanotic episodes, apnea, stridor, dysphagia, etc.
Get a C-section for kids with NTD for better management.
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:



5 yr




Ataxia, nystagmus, head tilt,

intention tremor


20% of all primary CNS




Obstructive hydrocephalus;
CSF mets


20% of all primary CNS

tumors. Acute onset of



Obstructive hydrocephalus;
rarely seeds CSF


25-50% are


Progressive CN dysfxn, gait

disturbance, pyramidal tract /
cerebellar signs (brisk reflexes,
spasticity, babinski, etc)


Worst prognosis of all

childhood CNS tumors

( e.g. pontine)




5 yr




Sz, H/A, motor weakness,

personality changes


Poor survival if highgrade gliomas



Bitemporal hemianopsia,
endocrine abnormalities


See calcification above

sella turcica. Diabetes
insipidus common after

Optic glioma


Poor visual acuity, exopthalmos,

50nystagmus, optic atrophy,

NF-1 in 70% of pts

Parinaud syndrome (paralysis

of upward gaze), lid retraction
(Collier sign), precoc. puberty.
May seed CSF

Germ cell line

May secrete B-hCG or

Germ cell tumor



Epilepsy Syndromes




Childhood (1-8y)





Tons of
diferent kinds retardation,
bad prognosis

Slow spike &

wave (1-2Hz)


Childhood (510y)

Simple partial
(mouth, face),

e, usually

al spikes

e or no


Childhood (510y) & Juvenile


Absence, GTC

Hypervent =

3 Hz spike &




absence, GTC

Early morning

4-6 Hz
polyspike &


Simple febrile seizures: between 6 mo and 6 yrs, elevated temperature, generalized,

short (<15m), self-limited 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 efects 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,
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


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 stifening /
transient clonic movements.

Cerebral palsy
Etiology: problably most from antenatal insults (less common perinatal, pregnancy,
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






Chromosome 4
(CAG repeats in

Chorea, depression /
behavioral changes,

Atrophy of caudate
( GABAergic

Floppy babies, tongue

fasiculations, death

Degeneration of
anterior horns
(LMNs only)

Gait / falls / diabetes

nystagmus /

Dorsal columns /
lateral CST /


Frataxin gene,
GAA repeats,


dysarthria / DM /
cardiomyopathy /

Chr 9

spinocerebellar /
dorsal root

Episodic Ataxia

Brief episodes of
ataxia / nausea /

r ataxia (SCA)

Various, mostly
CAG repeats

Progressive gait /
dysarthria in early
adult life other
neuro abnormalities,
mild / moderate
cognitive decline late

A deficiency)

progresive ataxia,
Demyelination (
weakness, peripheral sulfatides -->
neuropathy; macular myelin sheath)
lesions (gray)

production of
myelin sheath

symmetric distal
muscular atrophy
(legs / feet hands),
hammer toes / pes



motor & sensory

CMT-2 is axonal
motor, others

Neurocutaneous disorders (phakomatoses)


chr 3

Port-wine stains (nevus flammeus), ipsilateral

leptomeningial angiomas. Glaucoma, sz, hemiparesis,
mental retardation. Can use pulsed dye laser
therapy to fade port-wine stain.


Aut-dom with

Hamartomas (CNS, skin, organs), cardiac

rhabdomyomas, renal angiomyolipomas, giant cell
astrocytomas, MR in 65%, sz, ash-leaf spots,
sebaceous adenoma, shagreen patch,

NF type 1 (von

Aut-dom, chr

Caf-au-lait spots, lisch nodules (pigmented iris

hamartomas), neurofibromas (skin), gliomas /

NF type 2

Chr 22

Meningiomas, gliomas, bilateral acoustic



Aut-dom, chr 3

Cavernous hemangiomas (skin, mucosa, organs),


RCC, hemangioblastoma (retina, brain stem,


Lindau dz

DDx of Sturge-Weber includes PHACE syndrome - posterior fossa malformations, hemangiomas,

arterial anomalies, coarc of aorta, eye abnormalities

Post-infectious weakness




(chickenpox, measles) or
post-vaccine (rabies,

Perivenular inflammation, demyelination postinfection. Abrupt onset, monophasic. Fever, H/A,

drowsiness, sz, coma; can have hemi/paraplegia, CN
palsies as well


Post-campylobacter or
herpesvirus (CMV / EBV)

Antiganglioside Ab (GM1, others); ascending motor

paralysis sensory, hours/days, autonomic
dysfunction, often pain
LP: albuminocytologic dissociation
IVIG / PLEX equally efective, steroids dont help


Pain, responds to steroids (90%), can relapse,

slowly evolving with areflexia / impaired

GBS variant post


Anti GQ1b Ab, ataxia, areflexia,

ophthalmoplegia; proprioceptive loss (not
cerebellar dysfxn), usually self limited / good


Hearing loss:

Usually dx by severe language delay (e.g. no babbling by 9 months = get audiologic

Normal (0-5 db threshold), mild (25-30: lose some speech sounds), moderate (30-50:
most speech indiscernible), severe, profound (>70db)
Sensorineural: congenital or acquired
#1: Waardenburg syndrome (aut-dom, white forelock / partial albinism,
deafness, lateral displacement of inner canthi, heterochromic irises, medial
eyebrow flare, broad nasal bridge)
#2: Branchio-oto-renal syndrome: hearing impairment, preauricular pits,
branchial fistulas, renal impairment, external ear abnormalities
Alport syndrome: nephritis, progressive renal failure, SN hearing loss, ocular
Down syndrome, neurofibromatosis, Jervell/Lange-Neilsen (also congenital


prolonged QT), Hunter/Hurler syndromes as well.

Infections: CMV #1, also toxo, rubella, syphilis, GBS/strep pneumo infection
Drugs: aminoglycosides, loop diuretics, chemo (cisplatin), lead, arsinec,
External: trauma, fx, ECMO, radiation, loud noise exposure
Conductive: otitis, anatomic lesions, etc.
Newborn screening: usually use OAE (easier but more false positives) followed by ABR to
confirm abnl results
Mandatory before 1 mo of age (usually done in nursery)
Higher rates in patients with APGAR 4 or less @ 1 min, 6 or less at 5 minutes; also f
hx childhood SNHL, CMV/rubella/syph/herp/toxo, craniofacial abnormalities, birth weight
< 1500, hyperbilirubinemia requiring transfusion, mechanical vent > 2 days.
Early intervention is key: better outcomes. can fit hearing aid if > 2mo, cochlear
implant when 2yrs+

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.
Get CBC with dif & blood smear, flow cytometry to type. Bone marrow bx is gold
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

High risk of tumor lysis syndrome (hyperUricemia, hyperPhos,

hyperK) - give fluids, alkalanize urine, give allopurinol for high uric acid, aid
elimination of K/phos
Worse prognosis if >10y, <1yr, WBC > 50k @ dx, philadelphia chromosome,


Acute myeloid leukemia (AML):

Less common (25%) than ALL, peak in adolescence, white=AA
May develop chloroma (soft tissue tumor) in spinal cord, skin
Can also have hyperleukocytosis as above. Keep Hb < 10g/dL, plt > 20,000
Treatment is more intensive than ALL
Increased risk with congenital bone marrow failure states like ShwachmanDiamond (exocrine pancreatic insufficiency and neutropenia) and DiamondBlackfan (congenital RBC aplasia), exposure to benezene, alkylating agents
Acute promyelocytic leukemia = M3 subtype; higher survival rate, retinoid
gene translocation (retinoic acid part of tx), higher in latinos, better prognosis
Chronic leukemias: only 3%, more indolent but can develop to blast crisis. CML in
adolescents, but rare
Increased leukemia risk: Trisomy 21, fanconi anemia, Bloom syndrome, twin with leukemia,
chemo / ionizing radiation for 1st malignancy.

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

Sporadic: abd tumora/w nausea, emesis, intussusception

Epidemic: jaw, orbit, maxilla, more definitely EBV associated

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 (>
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 predominance has best prognosis).
Staging: depends on where involvement is (single LN, more, both sides of diaphragm,
disseminated, B-sx?)
Treatment: can be chemo combos +/- XRT depending on stage, other factors.
Chemo drugs and their side efects
Alkylating agents / cross linkers
Cyclophosphamide - hemorrhagic cystitis, SIADH, cardiac toxicity, infertility
Iphosphamide - hemorrhagic cystitis, also renal / ototoxicity, infertility


Cisplatinum (platinates, doesnt alkylate, but cross-links) - ototoxicity, renal

toxicity, late nausea
Methotrexate (dihydrofolate reductase inhibitor) - mucositis, hepatic/renal tox,
Mercaptopurine, thioguanine (block purine synthesis) - mucositis, hepatic
Cytarabine (inhibits DNApol): mucositis, flu-like sx, ocular toxicity
Plant products
Vincristine (microtubule inhibitor) - SIADH, neurotoxicity, constipation
Etoposide (DNA strand breaks) - mucositis, infusion rxn, secondary leukemias
Asparaginase (asparagine depletion) - coagulopathy, pancreatitis,
Retinoblastoma: malignant tumor of embryonic neural retina. Chr 13q14 mutation (RB1)
60% sporadic, rest hereditary (high but incomplete penetrance). Bilat (25%) =
If parent has unilateral rb & known mutation or bilat rb, screen at birth (ophtho) &
reg intervals until 4-5 y/o

in < 2 year olds, 95% before age 5.

Dx: leukocoria (absent red reflex). Get ophtho eval; may need MRI, etc.
DDx of leukocoria includes congenital cataract, medulloepithelioma, Toxocara
endopthalmitis, persistent hyperplastic primary vitreous, Coats disease = abnl development
of blood vessels behind retina)

Tx: varies: enucleation, chemo, local therapy (laser/cryo), radiation. depends on extent of
If heriditary form, higher risk for soft tissue sarcomas
Neuroblastoma: postganglionic sympathetic nervous system malignancy; childhood, embryonal
Location: abdomen (70% - most often adrenal medulla; also retroperitoneal sympathetic
ganglia), thoracic cavity (posterior mediastinal ganglia), head/neck (cervical sympathetic
8% all childhood cancers < 15yrs; mean age @ dx 17-22 months
Etiology unknown, may be related to other neural crest cell disorders (Hirschprung, NF-1,
Presentation: Abd: smooth, hard, nontender abdominal mass; displace kidney
forward/down. Can get abd pain, HTN if compressing renal vasculature. Chest:
respiratory distress. Neck: Horners syndrome, palpable mass. MULTIQUADRANT
abdominal mass
Mets: lymphatic, hematogenous. Wt, loss, fever, bone marrow failure (pancytopenia),
cortical bone pain -> limp (Hutchinson syndrome), liver infiltrate -> hepatomeg
(pepper syndrome), periorbital infiltration (proptossis, ecchymoses = racoon eyes),
LN enlargement, skin infiltration (palpable nontender subcutaneous blue nodules).
Paraneoplastic: can see watery diarrhea (VIP secreting), opsoclonus-myoclonus too
Dx: Send urinary VMA, homovanillic acid (catechols), get bx
Prognosis: stage with INSS (international neuroblastoma staging system - I=localized &
excised ; I = localized, not excised, III = tumor beyond midline (incl. contralateral LN


involvement), IV = distant mets, IVS = age < 1 + mets, with primary tumor that would
otherwise be I or II. I, II, IVS have better prog than III/IV. Best prog for infants < 1. N-myc
has worse prognosis. Tx with chemo, surgery, radiation, biotherapy, etc. as needed.
Wilms tumor: #1 renal tumor in kids, neoplastic embryonal renal cells from metanephros
11p13 (WT1) and 11p15 (WT2) are most common genes.
most unilateral; 7% bilateral; most < 5 years old @ dx
Associations: sporadic aniridia, hemihypertrophy, cryptorchidism, hypospadius,
other GU abnormalities. Beckwith-Wiedemann (hemihypertrophy, macroglossia,
omcephalocele, GU abnormalities), Denys Drash (congenital nephropathy, Wilms,
intersex d/o), WAGR (Wilms, aniridia, GU abnormalities, mental Retardation), and
Perlman syndrome (unusual facies, islet cell hypertrophy, macrosmia, hamartomas) are
Features: asx abd mass, usually found by parents. Abd pain / fever = may have
hemorrhaged into tumor. Microscopic or gross hematuria in 33%, HTN in 25% (renin
secretion by tumor or compression of renal artery). Can get varicocoele (if spermatic vein
cord compression) too. vWD also 8%.
Management: Get abd ultrasound, then CT, then bx (usually at time of removal). Treat
with surgical removal of kidney; assess contralat idney for spread. Chemo and/or
radiation depending on staging
Good prognosis if small tumor, patient > 2 y/o, good histology, no LN mets / capsular
Anaplastic, clear cell, rhabdoid histology may necessitate diferent treatment
Soft tissue sarcomas:
Rhabdomyosarcomas = 50%. Associated with NF, Li-Fraumeni syndromes. #1 STS in
kids < 10 yrs)
t(2;13), t(1;13) translocations.
Can be embryonal or alveolar subtype. 35% in head/neck, 22$ in GU sites, 20%
in extremities.
Non-rhabdomyosarcomas: heterogenous group. fibrosarcoma is #1 STS in kids > 10 yrs.
Include nerve sheath tumors (malignant, congenital with NF-1) but also fibrous
histiocytomas, leiomyosarcomas (after radiation for prior tumor)

Bone Tumors

Patient / presentation


Mostly adolescents,
M>F (1.5x), very rare in
AA. Pain, localized
swelling at site of tumor
+ fever, wt loss,
fatigue if mets


Flat and long bones

(femur, pelvus >
fibula, humerus,
tibia). Often



Rad: lytic with

elevation (onion
skin). Get bx

chr 11-22
translocation. Tx:
rad/surgery +
chemo (almost all
pts have
microscopic mets).
if no mets, 5yr >



Mostly adolescents,
M>F (2x), most during
peak growth velocity.
Pain, localized swelling
but rarely systemic
manifestations. Often
attributed to trauma
(gait distrubance, fx

Medullary cavity /
periosteum, at
metaphysis of bones
with big growth
velocity (distal
femur, prox tibia,
prox humerus)

Rad: lytic with

radial sunburst as
tumor breaks
through cortex).
Get CT chest for
pulmonary mets,
bone scan too.

Clinical mets in
20%; msotly lungs;
almost all others
have microscopic
mets. Tx: Surgical
removal, resistant
to radiation =
neoadjuvant +
adjuvant chemo.
Long-term relapsefree survival >70%

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, coveruncover tests
Amblyopia, reduced steropsis (depth perception) can result.
Tx: realign (medical, surgical intervention), earlier is better for chances of normal
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
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 afected 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


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).



C. trach






bilat, serous


Exclude other



bilat, prurulent
discharge, eyelid
edema, chemosis

arthritis, corneal

cx (chocolate
or ThayerMartin)

n, IV
treat parents


unilat or bilat

Chlamydial cx

Oral +
n*, treat

corneal scarring,

* remember that systemic erythromycin in neonatal period has been linked to

hypertrophic pyloric stenosis
Infectious Conjunctivitis (Pink Eye)
DDx: All have difuse 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
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
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
Start empiric IV abx (cefuroxime, +clinda if concern for anaerobes, or amp-sulbactam) x
3 wk course total (can switch to PO when symptoms go away).
Bad sequelae: brain abscesses, meningitis, cavernous sinus thrombosis (rare but serious).

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 of & 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
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
abnormality in medial aspect of proximal tibial epiphysis
Physiologic genu varum should straighten by 2 years old

Scoliosis: lateral curvature; idiopathic mostly; hereditary factors.

Screening is key. Severe = bracing, surgery (F>M by 8x). During growth spurt, most


Mostly just screen if minor. Brace if 25-30 degrees, surgery if 45-50,
cardiopulmcompromise if 90-100
Kyphosis: posterior rounding of spine. Often from poor posture; PT vs observation as tx.
Scheurman disease: inflexible kyphosis a/w wedge-shaped vertebral bodies. Brace /
Achodnroplasia: disorder of cartilage calcification, remodeling. Aut-dom condition.
heterozygotes: typical phenotype, normal intelligence, sexual fxn, life expectancy.
Homozygotes: bad outcome (pulm complications, small foramen magnum = brainstem

Basic features: ligaments / tendons > bones for strength in kids, so more breaks than sprains /
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
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
Tx: extend elbow, supinate hand; hear click as annular ligament pops into place; kid better
in minutes
Typical injuries in young athletes

Shoulder injuries (rotator cuf tendinitis and/or supraspinatus muscle



Knee injuries (ACL, PCL, MCL) common.

Turf toe (injury to 1st MTP joint) if artificial turf
Head, neck injuries serious but rare



Lower extremity problems - Osgood-Schlatter, ligament sprains, ankle



Muscle strains in hamstrings, adductors, soleus, gastroc.

Runners knee: anterior knee pain because of patellofemoral stress


Delayed menarche, eating disorders are stereotypical

Lower extremity problems too - bunions, knee/ankle problems from


Upper extremity problems: shoulder subluxation

Lower extremity problems: usually prepatellar bursitis (traumatic impact
on floor)
Skin conditions: contact dermatitis, superficial fungal infections, HSV
(herpes gladiatorum), impetigo, MRSA!


Skiers thumb: abduction & hyperextension of thumb --> sprain ulnar

collateral ligament during fall is #1


Contusions, lacerations, pretty much any kind of injury. Loss of teeth too.

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
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



GBS, E. coli, S. pneumo, S.



Infants > 6wks

Young kids


S. aureus #1
also Kingella kingae, S. pneumo


Older kids


S. aureus #1, also strep, gramnegs

N. gonorrhea if sexually active

1st/2nd gen cephalosporin

or symisynthetic PCN

Transient (toxic) synovitis of the hip: frequent cause of hip pain, stifness in children.
?infectious, often after viral illness.
ROM limited - present in unilateral frogleg position, have hip efusion 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,
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)

ADHD - needs to be present in more than one setting and start before 7 yrs old, 6mo+ of
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


Things to remember: Cant get PFTs until 5-6 yrs. Intrathoracic = expiratory, extrathoracic =
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.
Obstructive sleep apnea: daytime somnelence, poor growth, behavioral problems

Pickwickian syndrome: if leads to chronic hypoventilation; often in

obese kids

Get polysomnography; normalize airway anatomy (remove tonsils /

adenoids if needed)

CPAP an option if other interventions fail; if untreated, severe OSA can

lead to CHF / death!
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 >


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
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 +
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
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.
Dx: sweat chloride test, genetic/prenatal testing
Tx: airway clearance (chest PT, bronchodilators to relax smooth mm, abx to clear
infections, decrease inflammation). Also recombi human deoxyribonuclease (breaks
down thick DNA complexes). Alternate months of inhaled tobramyicin inhaled for
Pseudomonas-infected people. lung transplant if life expectancy < 1-2yrs, 50% survival
post transplant @ 5 yrs.
Sequelae / warning signs
Hemoptysis = alarming if severe broncihectasis (can erode into arteries; frank
blood loss).


Spontaneous PTX alarming too. Need to place chest tube; pleurodesis (obliterate
pleural space) to prevent recurrence.
Can get chronic pulmonary HTN, cor pulmonale if advanced disease.
Primary ciliary dyskinesia: aut-rec group of diseases; cilia dont work = bad mucociliary
Recurrent bronchial obstruction, sinusitis, chronic otitis media, recurrent resp
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 difuse 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 of 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).

Glomerular disease
Nephritic syndromes: think red cell casts, edema, mild HTN, hematuria, etc. Can use Cachannel blockers for HTN
Classic presentation

Lab features




Pufy eyed kid, teacolored urine, RBCs, mild

HTN after sore throat or

low C3, normal C4

Positive ASO, antiDNAseB


Recurrent painless
hematuria, usually after

IgA immune complexes

in mesangium


Common cause of
nephritis, but mostly
younger kids 4-5

IgA immune complexes

in mesangium


Can present like APSGN

Consider if hematuria
doesnt resolve or C3 still
abnl in 6-12w


Aut-dom (FHx);
persistent or intermittent

Bx normal or thin
basement membrane.


Nephritis and

membrane Ab (linear


hematuria (often asx,

proteinuria, renal
failure, hearing loss

95-98% recover well

Abx dont decr. risk
Steroids dont help

No progression to
chronic renal failure

Genetic (often Xlinked) defect in

collagen synthesis =
abnl basement
membrane formation

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).

Lab features


Minimal change

Kid with periorbital

edema, then lower
edemity edma, wt
gain, ascites

Normal light
podocyte foot
process efacement
on EM

#1 cause by far in
Responds to steroids


Older kids with

nephrotic syndrome

Focal (only some

glomeruli) &
segmental (only part
of glomerulus)

Membranoproliferat Older kids with

ive GN (MPGN)
nephrotic syndrome

Primary, or 2/2 HIV or

use of some drugs
(e.g. heroin)

IC deposits in
subendothelial space


--> rebuild BM on top

--> tram tracks

mostly adults

Subepithelial spike &

dome deposits of ICs
binding to GBM

Can be a/w SLE, HBV

Bartter syndrome: aut-recessive condition, aka juxtaglomerular hyperplasia

P/W hypoK, hyperCa, alkalosis, hyperaldo, hyperrenin but normal BP
FTT (small for height, weight), constipation, past episodes of dehydration with really
low serum K
Usually present between 6-12 months. Treat to prevent dehydration, nutritional
support, fix K
Posterior urethral valves
think young male infant (only males!) with dribbling urinary screen, lower
abdominal mass, U/S: bilateral hydronephrosis, bladder wall hypertrophy. Older
kids can have FTT, renal dysfunction, UTIs
get abdominal renal ultrasonography
cath the kid to relieve obstruction; +/- abx if UTI suspected.
definitive treatment: endoscopic transurethral valve ablation if Cr OK, urethra big
May need vesicostomy if UTI doesnt respond or narrow lumen or high Cr.
may have persistent hydronephrosis / require continued abx ppx
Vesicoureteral reflux (VUR)
Retrograde flow into ureters / can go back to kidney; more common in females, can lead
to recurrent UTI
Tx depends on degree of reflux: from abx ppx to surgery
Roughly: grade 3 is where ureters start to enlarge. Monitor grade 1-2 +/- abx ppx,
grade 3 - definitely abx ppx,, grade 4-5 think about referring for sugrical fix.
TMP/SMX is best for abx ppx; nitrofurantoin #2, amox not great
VCUG shows ureters outlined on voiding (put contrast in blader, refluxes backwards)
Get annually, not more frequently (fluoro time is bad)
Resolves at 13% per year
Uretropelvic junction obstruction (UPJO): #1 cause hydronephrosis in chidlhood. Often
visible in prenatal U/S. May need surgical correction if obstruction causes sx, worsens
Kids with UTIs: Work up any male infant with UTI to evaluate anatomy, function (get renal
Enuresis: 15% of 5 year olds; 15% per year resolve. Males > F, fhx prominent, think social
issues too.
Rule out kidney lesions, spinal cord problems (look for sacral dimple, hairy tuft on back)
Bed alarm can help behaviorally (70-90% success with parental support)


Consider desmopressin / imipramine for sleepovers, summer camps (doesnt increase

resolution rates)

Renal Tubular Acidosis

All RTAs: have normal AG hyperchloremic metabolic acidosis
Can prresent with FTT
DDx: GI losses, exogenous Cl- (both would have negative UAG = normal, acid urine as you
try to excrete)
Treat with alkanizing agent (bicarb, citrate) to correct acidosis, restore growth.
Type 1: distal RTA; deficient H+ secretion into filtrate
has positive urine anion gap, with hypo/normokalemia and urine pH > 5.5 (really
losing ability to acidify urine well, and K+ can get sucked out in the process)
Type 2: proximal RTA. Proximal tubule doesnt resorb bicarbonate.
UAG is 0 or negative!! Normal! (no impaired ammonia secretion). Urine pH < 5.5.
May use thiazide diuretics to increase prox tubule resorption of bicarb
Type 4: also a distal RTA; hyperkalemia from hypoaldo / pseudohypoaldo --> impaired
ammonia secretion
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,

JIA (Juvenile idiopathic arthritis / formerly JRA)
faint rash, joint pain, daily spiking fevers with waxing/waning body pain, joint
swelling, morning stifness usually lasting > 30 minutes
CBC: thrombocytosis, leukocytosis, anemia
RF+: more like adult disease (50% progress to adult RA); RF-: better prognosis
Stills disease (systemic-onset JIA): arthritis with visceral involvement


(hepatosplenomegaly, serositis, lymphadenopathy)

Pauci (or oligo) articular JIA: JIA with 1-4 joints involved

Early-onset: females > males, a/w anterior uveitis, often ANA+

Late-onset (>8y/o): males > females, a/w ankylosing spondylitis

Polyarticular JIA: JIA with 5+ joints involved
Treatment: NSAIDs, steroids, methtrexate; monitor for anterior uveitis with slit-lamp
HSP: small vessel vasculitis common in young kids. IgA deposition in vessel walls
Sx: Palpable purpura, nephritis, abd pain / GI bleeding (can lead to intussusception),
arthritis. May be preceded by URI (often GABHS)
Tx: initially hydration, pain control, usually doesnt require more than supportive
treatment, resolves usually within 4 mo although sx may last for 12 wks. Use systemic
corticosteroids if severe GI/renal sx, may even need to step up to cyclophosphamide if
really bad.
Juvenile dermatomyositis; age 5-10y, girls > boys with proximal mm weakness (cant climb
stairs, lift hands over heads), malaise, fatigue, wt loss, intermittent fevers, heliotrope rash
(purple around eyes), gottron papules (scaly erythematous patches on extensor
MCP/interphalangeal joints of fingers, elbows, knees).
Elevated serum CPK!
Disease happening in small blood vessels (humorally mediated with immune complexes,
C activation, CD4+ lymphocyte infiltration --> capillary, mm injury)
Give corticosteroids (oral pred or pulse methylpred)
DDx: Polymyositis less common in children - in polymyositis, see CD8 lymphs attacking
muscles directly
Kawasaki Syndrome: a generalized disease of unknown origin, ? infectious
Dx: CRASH & Burn on your Kawasaki motorcycle:
Conjunctivitis (bilateral, nonpurulent) & Cervical lymphadenopathy (acute,
Rash (polymorphous, primarily truncal)
Strawberry tongue
Hands & feet (edema / erythema changes acutely, then periungual desquamation
when convalescing)
Burn: must have fever for at least 5 days (or fewer if defervescence after IVIG)
and no other more likely etiology!)
Most common in Asians but does occur worldwide, most frequently in kids < 5 years
Labs: elevated CRP, ESR, normocytic anemia, thrombocytosis
Tx early with IVIG, aspirin (reduces aneurysm development)
Hold vaccines for 11 months after IVIG (wont work!)
Get flu vaccine when on prolonged aspirin therapy (later, after IVIG out of
system) to help avoid Reye syndrome when taking aspirin
Coronary aneurysm development more common if: male, fever > 10 days, age < 12 mo,
low serum albumin / Hb, early cardiac findings, thrombocytopenia


SLE in mom can cause neonatal heart block

Classic findings for rheum conditions
Dry eyes / mouth


Gottron papules

Juvenile DM

Oral / nasal ulcers

SLE, Wegener, Bechet

Nailfold capillary

SLE, DM, scleroderma,


Chest pain /

SLE, systemic JIA


HSP, small/medium
vessel vasculitis



Malar rash

SLE, dermatomyositis

Muscle weakness



SLE, scleroderma

Skin tightening


Labs in rheum conditions


Systemic RA

Sterile pyuria



SLE, scleroderma, sjogren, JRA (not systemic)

anti-dsDNA, anti-smith, antiphospholipid ab


Rheumatoid factor

RF-positive polyarticular JIA

Low C3/C4


Elevated CPK

juvenile dermatomyositis

Anti-Ro, Anti-La

Sjogren syndrome

Timing of puberty
Males: testicular enlargement, then pubic hair, penis lengthening, then max height
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


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)

Central = gonadotrophin dependent.

90% girls idiopathic; structural CNS lesion in 25-75% boys

Peripheral = gonadotrophin indep. (exposure: creams, OCP or

adrenal/ovarian tumors)
Bone age > chron age on radiographs.
Treat w/ non-pusatile GnRH analogs (leuprolie): keep epiphyses from closing,
preserve final ht
Specific syndromes on ddx of precocious puberty
Remember, MIF inhibits the Mullerian ducts, testosterone induces the Wolffian ducts
McCune Albright syndrome:
Coast of Maine cafe-au-lait spots, precocious puberty, polyostotic fibrous
dysplasia (medullary tissue of bone replaced with fibrous tissue - weaken bone,
cause deformity)
CAH: Increased androgens but not gonadotropins
Females: ambiguous genitalia (46,XX) with masculinization from androgens;
ddx includes exposure to maternal androgens, congenital vaginal absence. Both
Wolffian & Muellerian ducts
Males: virilization (aggression, increased height/wt, pubic hair, muscles, oily skin,
masculine voice) , but with prepubertal testicular size. Remember male infants
can have normal genitalia but can be salt-wasters (FTT)
Get 17-hydroxyprogesterone if suspicious
Can treat with hydrocortisone (depresses adrenal production of androgens). Give
hormones at puberty, can use estrogen-containing PO meds in females, depot
androgen injections in males.
Congenital androgen insensitivity syndrome:
46, XY with testes in abdomen but dont respond to androgens = externally
Wolffian (internal male) structures, but no internal female structures (have
No external masculinization = no pubic hair, etc. (but normal breast
development). Vagina oten ends in blind pouch.
Typically this is a really feminine girl who goes through normal pubertal
development breast-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
Premature adrenarche: early activation of androgens (pubic/axillary hair, body odor)
usu. girls age 6-8; also if in boys < 9
Adrogens normal for pubertal stage but high for chronolgic age.


Premature thelarche: early breast development w/o growth change, pubic / ax hair
usually girls age 1-4, most common at 12-24m from transient estrogen bursts from
prepubertal ovary.
In both of the above, normal growth rate & bone age are seen.
Tanner staging

Breast development

Genitals (M)

Pubic hair (M & F)





breast bud,
areola widens

testes, scrotum larger

scrotum reddens, changes texture

sparse, longer, lighter

hair @ base of penis,
along labia


elevation of breast
+ areola

penis enlarges (length)

testes, scrotum grow more

darker, coarser, more

curled along pubic jxn


areola projects
above breast

penis enlarges (thickness, glans

testes, scrotum grow, darker

adult-type hair,
no spread to thighs

mature stage;
smooth contour &


adult-type hair,
spread to thighs

Mittleschmerz - sudden onset of RLQ or LLQ pain with ovulation; can have mucouid vaginal
On ddx of appendicitis!
Dysfunctional uterine bleeding:
Menorrhagia: excessive / prolonged bleeding with a regular menstrual cycle
Metrorrhagia: irregular bleeding between menstrual cycles
Menometrorrhagia: irregular uterine bleeding with excessive / prolonged flow
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

Substance Abuse
PCP intoxication
Phencyclidine, angel dust, horse tranq, happy leaf. piperidine like ketamine; originally
anesthetic (NMDA receptor blocker), long-acting (6h short-term efects, full efect 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 efects 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 poststoppage, can be fatal!
DDx vs thyrotoxicosis, pheochromocytoma, inappropriate use of beta-agonist inhalers /
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 /
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

Ibuprofen can help muscle aches
Can use clonidine for autonomic hyperactivity in acute-phase + methadone (long-acting

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 afect, hyperthermia, tachycardia, HTN, flushing, pupil dilation,
injected conjunctiva, hyperreflexia
Tx: talk down in calm environment; benzos, cooling blanket if needed, HTN treatment
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.

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
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.

Child Abuse
Force feeding -> transect the lingual frenulum
Pancreatitis in an infant is abuse until proven otherwise.
Retinal hemorrhage: abuse is #1,2,3 in ddx. 30% have @ 24h of birth, but most resolve
in several days.


Highly suspicious fractures

1. Classic metaphyseal lesions
2. Posterior rib fx esp in non-ambulatory child
3. Scapular or sternal fx in a child less than 3
Moderate concern fx: multiple fx, diferent ages, skull fx, vertebral fx
Most likely accidental fx: clavicular, long bone, linear skull fx