Peds Shelf Notes

Cardiovascular Dermatology Development Endocrinology Fluids Genetics & Other Congenital Stuff GI/Nutrition
GU/Urinary Hematology Infectious Disease Neonatology Neurology Oncology Ophthalmology Orthopedics Psych
Pulmonology Renal Rheumatology Adolescence Miscellaneous
Cardiovascular
PDA: ductus usually closes within 10-15h and almost always by 2 days of birth
AV canal / endocardial cushion / AV septal defect: contiguous atrial, ventricular septal defect.
● large systolic pulmonary flow murmur + LLSB diastolic murmur heard; can have wide split S2

Cyanotic Heart Defects

Note: if something’s 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 shunt)

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.

Name Physiology Diagnosis Treatment

Transposition of Aorta, pulmonary artery
the Great switched. When PDA closes,
Arteries two parallel circuits formed
without a/v mixing -
trouble! Less sx if VSD
present too.
Healthy-looking kid stops feeding, Prostaglandin (open
looks dusky, breathes fast, long cap PDA), then create
refill @ 15h (PDA closes). Loud, ASD (atrial
single second heart sound. “Egg on septostomy) via cath
a string” on CXR (narrow for palliation;
mediastinum: aorta, pulmonary definitive surgery in
artery superimposed) first 2 wks

Tetralogy of 1). Pulmonary stenosis See boot shaped heart (RVH), decr. Surgery
Fallot 2). Overriding aorta pulmonary vascularity. Classically
3). VSD with tet spells (sudden incr. in R-L
4). RVH. shunting, cyanosis after activity, child
squats to compress peripheral vessels
A/w 22q11 (DiGeorge) / improve pulm blood flow.

Pulmonary Stenosed pulmonary valve = Cyanosis, exercise intolerance. ULSB Valvuloplasty via
valve stenosis outflow obstruction. systolic ejection murmur that cardiac cath.
radiates to back; systolic click. EKG:
R-axis dev with more severe (RVH).
A/w glycogen storage dzs, Noonan
syndrome

Tricuspid No outlet between RA, RV - Cyanosis. Decreased pulm vasculature Prostaglandin, then
atresia need foramen ovale, ASD, on CXR. surgical correction

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 VSD for mixing. Leads to RV The only cyanotic heart disease with (modified BT, then
hypoplasia. LVH on EKG, exam, echo (others have hemiFontan, then
bigger RV!) Fontan)

Ebstein anomaly Regurgitant tricuspid
valve displaced towards
bottom of R heart (small
RV results). Obstructs
ventricular outflow (large
anterior leaflet
Cyanosis. Wide, fixed split S2, Prostaglandin, then
tricuspid regurg blowing murmur @ surgical correction
LLSB, extreme cardiomegaly on CXR
A/w lithium during pregnancy,
also a/w WPW

TAPVR: Total Anomalous pulmonary
anomalous veins enter systemic veins
pulmonary (oxygenated blood shunted
venous return back to venous side!) Must
have ASD/PFO for mixing
“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
Surgery (emergent if
obstruction, within 1
mo of life if not)

Hypoplastic left Underdeveloped left side of Cardiomegaly, increased Prostaglandin,

heart syndrome heart. Need ASD/PDA: ASD pulmonary vascularity. See poor R Palliation (Norwood,
to get O2-rich blood from LA wave progression & RVH on EKG. Glenn, Fontan staged
to veins, where it can go to repair) / transplant
body via PDA

Pulmonary Pulmonary valve small or Cyanosis within hours, worse with Prostaglandin
atresia with shut off, with no VSD = no closure of PDA Surgery
intact ventric. mixing! Decreased pulmonary vascularity
septum (PA-IVS)

Truncus Single arterial vessel from
Arteriosis base of heart gives rise to
coronary, systemic,
pulmonary arteries, always
with VSD
A/W DiGeorge. Nonspecific murmur, Surgery (close VSD,
minimal cyanosis at birth, but CHF in separate pulmonary
weeks (pulm vasc resistance falls, arteries, conduit
lungs suck up blood, systemic blood from RV to
flow falls). loud ejection click, pulmonary arteries
single S2 with bounding pulses.

Cardiac surgeries
● Norwood procedure: connect subclavian to pulmonary artery (modified blaylock-taussig shunt) to get
blood to lungs. Problem: expose lungs to high systemic pressures. In hypoplastic L. heart syndrome, the RV
is essentially pumping systemic circulation (PA to aorta via maintained PDA), so you need another way to
get blood to lungs - hence this procedure.
● Bi-directional Glenn (Hemi-Fontan): SVC connected to pulmonary circulation. Lungs now getting much
lower venous pressures (better) but IVC still dumping deoxygenated blood into RA->RV->PA->PDA->Aorta
(mixes!)
● Fontan procedure: connect IVC to pulmonary circulation (completing the Fontan) - now all deoxygenated
blood (SVC and IVC) goes to lungs, and RV is providing pump action for systemic circulation (like the LV
usually does)

Benign murmurs:
Diastolic = pathologic. For systolic:

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More likely innocent More likely congenital heart disease

Murmur intensity grade 2 or less, heard at left sternal Murmur intensity grade 3 or higher
border Harsh quality
Normal S2 Pansystolic duration
No audible clicks Loudest at upper left sternal border
Normal pulses Abnormal S2
No other abnormalities 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 grow.
● 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).

Still’s 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 it’s from vibration of MV or chordae; others think it’s just
from high-turbulence ejection from LV.

Venous Hum: benign; continuous / soft / humming murmur heard @ neck, right upper chest.
● 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 mid-to-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, R≈L sided systolic pressures;
mostly insignificant. L to R shunt after pulmonary resistance falls, ductus arteriosis closes. Often present

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 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.

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

● No murmur from flow (atrial flow doesn’t 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 & eisenmenger’s syndrome.
● 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 Turner’s syndrome; ductal dependent; start prostaglandins, see differential
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 resolve.

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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 that’s unrepaired /
have palliative shunt / conduit / prosthetic material, or heart transplant pts with cardiac valvular
disease only!
● CRP, ESR, WBC elevated. Get an echo to look at valves. Give 6 weeks IV abx directed therapy.

Myocarditis: mostly coxsackie B, alsocCoxsackie A, adenovirus, echovirus.

● Fever, dyspnea, fatigue, chest pain (from secondary pericarditis). looks like CHF (cardiomegaly, edema,
pulmonary edema / dyspnea, pallor, tachypnea / tachycardia)
● EKG: low voltage, ST depression, T-wave inversion.
● Echo: dilated ventricles, poorly functioning (depressed CO)
● PCR for viruses, may need biopsy.

Dilated cardiomyopathy: in kids, from recent myocarditis (“idiopathic”), neuromuscular dz (DMD), or drug
toxicity (e.g. anthracyclines), or can be familial
● Signs / sx : CHF, pulmonary edema.
● Treat like CHF: diuretics, fluid restriction, vasodilators & inotropes

Hypertrophic cardiomyopathy: Aut dom with incomplete penetrance. can present as sudden death in young
athlete stereotypically.
● thickened ventricular septum --> LV outflow tract obstruction. Leads to systolic ejection murmur @
LLSB / apex with soft holosystolic mitral regurg murmur, may have LV heave / thrill. Murmur gets softer
with squatting, laying down & louder with strain / Valsalva, standing up (more blood in LV means less
obstruction) - the opposite of aortic stenosis
● EKG: see LVH, left-axis dev, may see signs of strain / ischemia. Echo is diagnostic.
● Tx: Ca-channel blockers, beta-blockers. Avoid competitive sports (4-6% mortality per year).

Arrhythmias
Bradyarrhythmias:
● Sinus bradycardia: often normal in young healthy athletic kids. <60 in older children, <100 in neonates
● First degree heart block: PR > 200ms.
○ A/w increased vagal tone, meds (digoxin, beta-blockers), infections (viral myocarditis, Lyme),
hypothermia, electrolyte problems, CHD, rheumatic fever.
● Second degree heart block:
○ Mobitz I / Wenchebach: Progressive PR prolongation, then QRS dropped. Same etiologies as
1st degree heart block. Less serious.
○ Mobitz II: abrupt failure of AV conduction - sudden dropped QRS after normal P. More serious
than Mobitz I or 1st degree heart block (can progress to total heart block).
○ Fixed ratio: 2:1, 3:1, etc. blocks. From AV node or His injury. May progress to total heart block
● Third degree heart block: Total A-V dissociation.

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 ○ Can be junctional escape (normal QRS interval), or ventricular escape (slower, wide QRS).
○ A/w open heart surgery, congenital heart malformations, Lyme disease, cardiomyopathy.
● Don’t need to treat 1st degree or Mobitz 1. For others, may need prophylactic pacemaker / defib.

Tachyarrhythmias: Rate > 250: think tachycardia, even in the little ones.
Classically, narrow-complex are well tolerated; wide-complex can be an emergency.
● narrow: think SVTs, WPW, AVNRT, A-flutter, A-fib
● For reentrant tachycardias: vagal nerve stim (carotid massage, ice, strain) then IV adenosine
● wide: V-tach / V-fib. Emergency time!
○ If hemodynamically stable, can try amiodarone or procainamide (not together) & consult cards
○ If unstable, PEA algorithm: if pulseless, non-synchronized cardioversion @ 2J/kg, CPR, ACLS.

Wolf-Parkinson-White: see delta wave resting, representing accessory pathway

Congenital long QT: think channelopathies. can lead to TdP (give Mg to treat!)
● Jervell-Lange-Nielsen: long QT + sensorineural hearing loss
● Romano-Ward: no sensorneural hearing loss (strictly cardiac; worse)

Hypertension in kids: more likely secondary than kids, although primary essential is increasing. check for
pheo, renal artery stenosis, neuroblastoma, etc.
● Need 3x elevation > 95% adjusted for age, sex, height.
● make sure cuff covers 75% of upper limb, right cuff side, take multiple extremities if indicated
● Pharm therapy
○ younger kids: diuretics, beta blockers, ca channel blockers
○ older kids: can use ARB / ACEi in adolescents, adults)
○ hypertensive crisis: sublingual nifedipine, IV nicardipine, IV nitroprusside, labetalol. Can use
hydralazine in neonates. Monitor closely & avoid sudden drops (cerebral perfusion autoregulated
to higher pressures; can stroke out).

Dermatology
Atopic dermatitis (eczema) -
● Infants (birth-2) - present ~ 3mo with dry, red, scaling cheeks (e.g. winter time), may be exudative,
without perioral, paranasal involvement, sparing diaper area, very pruritic & interfering with sleep
● Childhood: inflammation in flexural areas; perspiration --> itching/burning --> scratching --> irritation -->
etc. See papules that coalesce into plaques; can see lichenification with itching.
● Older kids / adults: pruritic, recurrent, flexural, onset again around puberty, hand dermatitis / periorbital
/ anogenital.
● Runs with other atopic disorders (allergic rhinitis, asthma).
● Watch out for bacterial superinfection, diffuse cutaneous HSV (punched-out red umbilicated vesicles)
● Dx: lab studies not great; serum IgE may be helpful.
● Tx: emollients, antipruritics (topical corticosteroids or antihistamiens), to control inflammation, avoid
drying soaps, use lubricants (e.g. eucerin, vasaline) after bathing. Avoid topical fluorinated
corticosteriods on face, genetalia, intertriginous area (can depigment / thin the skin)
○ Tacrolimus, pimecrolimus: nonsteroidal immunomodulators for more refractory cases

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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 corticosteroids

Pityriasis rosea: herald patch, then salmon-colored lesions in christmas tree distribution
● 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 surgery

Pustular melanosis: benign, self-limited, neonatal rash, blacks > whites, found at birth
● Pustules that rupture within days and are then hyperpigmented for weeks; eventually resolve

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 stuff inside
● Resolve spontaneously. Called Epstein’s pearls on palate

Papular acrodermatitis of childhood (Giannoti-Crosti syndrome):

● Asymptomatic erythematous papular eruption, kids 1-6 yrs after URI, EBV, varicella, HBV
● 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!

Acne:
● Comedones: open = blackheads (compacted melanocytes); closed = whiteheads (prurulent debris)

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 ● P. acnes is implicated.
● Categories: inflammatory (papules/ pustules/nodules/cysts) or non-inflammatory (just comedones)
● Treatment:
○ start with benzoyl peroxide or topical Retin-A (tretinoin); often try benzoyl peroxide in morning,
tretinoin at night (need to wash benzoyl peroxide off first for tretinoin to work)
■ 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 effective
contraception too. Remember oral abx can decrease OCP effectiveness, so be careful with
these patients who might be taking tetracycline too!
■ Side effects: 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?), self-limited

Tinea capitus: Most commonly Trichophyton tonsurans (also microsporum canis from animals)
● Patches of scaling and hair loss with “black dot sign” (broken off hair shafts)
● Need oral griseofulvin (topical agents not effective, although do use selenium sulfide shampoo as adjunct
to kill spores) for 4-6 wks.

Tinea corporus: “ring worm”, tinea pedis: feet, often in moccasin distribution, interdigital spaces; tinea cruris:
jock itch, all most commonly from microsporum rubrum. Treat with topical antifungals (e.g. clotrimazole)

Tinea versicolor: superficial tan / hypopigmented oval / scaly patches on neck, upper part of back /chest, most
notable when rest of skin is tan from sunlight - treat with selenium sulfide shampoo or other antifungal
agents.

Development
Gross motor Fine motor Language Social Other

Regards parents’
Follow eyes to Alerts / startles to faces
Start to lift head from
1 mo midline only, hands sound; starts Smiles
exam table
clenched vocalizing a bit spontaneously
Responds to bell

Follows object 180 Smiles socially,

Raises chest, lifts head Coos, reciprocal Sleep through
2 mo degrees; holds laughs, squeals,
off table if prone vocalization night (2-3 mo)
rattle briefly recognizes parent

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 Follows toy from
3 mo side to side &
vertically

Reaches with both

Rolling over
hands together, bats Orients to voice, Initiates social
4 mo Head control with no
at objects, grabs & laughs, squeals interaction
lag; lifts onto elbows
retains

Sitting up; tripoding

Reaches with one Recognizes objects, Introduce
(needs support)
6 mo hand & can Babbles persons as juices in cup,
Reach for objects
btransfer hand-hand unfamiliar not bottle
Roll over well

Babbling still, “no” Gesture games (pat

Sit without support, Uses pincer grasp & understood, a cake), own name,
9 mo
crawls, pulls to stand finger feeds nonspecific mama, object permanence,
dada, stranger anxiety

Imitates, comes
Walk holding on to Pincer grasp &
Specific mama, dada + when called,
12 mo furniture (cruises), a release (cheerios);
1-4 other words cooperates with
few independent steps two cube tower
dressing

Two cube tower, 4-6 words + jagon,

Walks well Uses cup, indicates
15 mo throws ball responds to 1 step
independently wants / needs
underhand command

10-25 words, points to

Runs, walks up stairs Three block tower,
body parts, Plays near (not
18 mo with help, stoops / uses spoon,
communicates needs / with) other kids
recovers scribbles
wants

Stairs unassisted, can 50 words total Potty training

4-6 block tower, fork
kick / throw ball 2 word sentences Removes simple (or when child
2 yr / spoon, copies
overhand, jumps with 50% speech clothes, parallel play shows
straight line
two feet off floor intelligible to stranger interest)

250+ words
3-8 word sentences Knows age, gender;
3 yr Tricycle, broad jumps Copies circle
75% speech group play, shares
intelligible

Fully understandable
Dresses self, puts on
language - can tell a
Stand on each leg for 2 Copy square / shoes, wash / dry
4 yr story 4 colors, can
seconds cross, catches ball hands, imaginative
define 5 words, knows
play
3 adjectives

names 4 colors,
Stand on each leg for 5
Draws person with 6 Asks what words plays cooperative
5 yr seconds / skips with
body parts mean games,
alternating feet
understands rules

Written letters, Knows right vs left,

6 yr Rides bike Writes name
numbers knows all colors

Language is #1 predictor of future intellectual potential.

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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 off 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 environment.

Hypothyroidism: usual sx, but also slow growth - see bone age < chron age (can catch up)

Endocrinology

Diabetes
Criteria for DM:
● Casual glucose > 200 with signs / sx
● OGTT > 200 on 2 occasions
● FBG > 126 on 2 occasions
● HbA1c > 6.5%

Presentation of DM: Kids mostly symptomatic. ¼ 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 what’s used first

T1DM: patients are younger at onset

● Anti-islet cell, anti-GAD, anti-insulin, anti-IAZ antibodies
○ T-cell mediated process; ab are just marker of cell destruction
● Check for insulin production in 1-2 years to distinguish (if still making insulin, probably T2DM)
● Honeymoon phase: still making insulin. high blood glc is toxic to beta cells. When you start insulin,
decreased glucose increases beta cell function; can stop insulin for a while.

DKA vs HHS
● DKA: ketoacidosis with elevated gap, ketones in urine
● HHS: lactic acidosis with elevated gap, few ketones in urine

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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 you’re hitting the mark with correction doses.

Somogyi phenomenon: nocturnal hypoglycemic episodes (night terrors, H/A, early morning sweating) then
present a few hrs later with hyperglycemia, ketonuria, glucosuria (counter-reg hormones responsible)

DKA management:
● Fluid resuscitation: calculate fluid deficit, replace over 24h. Run lac ringers or IVNS @ 10mL/kg to start.
● Insulin drip @ 0.1 U/kg/hr; goal to decrease glucose 50-100 mg/hr (too fast a drop = cerebral edema!)
○ Add dextrose when glucose approaches 250-300 to prevent hypoglycemia
● Monitor for hypokalemia frequently & replace (total body K is down!)

Hypoglycemia: sympathetic symptoms (sweating, shaking, tachycardia, anxiety) & neuro sx (H/A, confusion,
irritability, lethargy, coma, etc)
● If glucose < 50 mg/dL, get a critical sample (CMP with bicarb, insulin, c-peptide, cortisol, GH, free fatty
acids, beta-hydroxybutyrate, acetoacetate, lactate, ammonia) to help determine etiology later!

Diabetes insipidus: not enough ADH. From brain tumors, CNS infections, surgical removal of craniopharyngeoma
● Polydypsia, polyuria; dx with dilute urine (SG < 1.010, Uosm < 300) in setting of hypertonicity (hyperNa)
● Usually not a problem unless not taking in enough water. Treat with DDAVP

SIADH: too much ADH. Psych dz, encephalitis, drugs (lisinopril, carbamazepine, TCAs)
● normovolemic hyponatremia with concentrated urine, normal renal fxn. Na < 125 = sx
● Dx of exclusion - r/o hyperglycemia, increased serum lipids.
● manage with fluid restriction; acutely can use hypertonic saline to raise Na by 0.5 mEq/hr, max 12
mEq/hr to avoid central pontine myelinolysis

11
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, hypoNa/hyperK
○ Females: ambiguous genitalia with normal ovarian development / internal structures
○ Males: no genital abnormalities
● Will need cortisol therapy and fludrocortisone if needed for mineralocorticoid replacement

11 hydroxylase deficiency: also autosomal recessive

● Inhibits aldosterone, cortisol production again, but deoxycorticosterone precursor has
mineralocorticoid activity - so you get hyperNa, hypoK, HTN along with increased androgen levels

Addison disease: primary adrenal insufficiency.

● Congenital (adrenal hypoplasia, ACTH unreponsiveness) or acquired (W-F syndrome with meningococcus,
adrenal hemorrhage). autoimmune more common in older kids / adolescents & a/w DM type 1,
thyroditis, etc.
● Weakness, N/V, wt loss, H/A, salt craving, postural hypotension; can get increased pigmentation
(melanocyte stimulating hormone ramped up with increased ACTH) - Addisonian tan.
● Adrenal crisis: fever, vomiting, dehydration, shock from illness, trauma, surgery - emergency!
● See hypoNa, hyperK, hypoglycemia, mild met acidosis
● Treat with corticosteroids, stress dose when needed. Need mineralocorticoids too if whole adrenal
involved.

Secondary adrenal insufficiency: caused by ACTH deficiency (usually withdrawal of chronic steroid therapy,
more rarely from pituitary tumors, etc).
● Sx like primary AI, above; treatment similar but don’t need mineralocorticoids if just ACTH deficient.

Cushing’s syndrome
● Cushing’s disease: bilateral / congenital adrenal hyperplasia from pitutiary adenoma is #1 cause in

12
 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 won’t suppress
cortisol in morning). high dose dexamethasone suppression: can’t 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.(they’re PTH-resistant at receptor level)

Fluids
MIVF: Remember: 100/50/25 mL/kg/day, or 4/2/1 mL/hr (for first 10kg/ second 10 / rest of kg)
● Short-cut: if over 20 kg, needs wt in kg + 40 mL/hr
● Use D5W ¼ or ½ NS + 20 mEq KCl (¼ for younger kids, ½ for older; add K if needed)

Dehydration:

Replacing losses: calculate deficit from above. Replace half over first 8 hours, rest over next 16h
● If they got a bolus already, subtract that from the first half. If unstable, give 20 cc/kg boluses until they’re
not unstable anymore.
● Example: 20kg kid who is 10% dehydrated (moderate) and got a 20 mL/kg bolus in the ED
○ Deficit = 2kg = 2,000 mL. Want to replace 1,000 in first 8 hours, 1,000 in next 16 hours
○ MIVF for him is 60 mL/hr
○ First 8 hrs: 1,000 - 400 cc bolus already given = 600 over 8 hrs = 75 cc/hr. Add in MIVF: give
75cc/hr + 60 cc/hr = 135 cc/hr

13
 ○ Next 16 hrs: 1,000 cc / 16 hr = 62.5 cc/hr. Add in MIVF: give 62.5cc/hr + 60cc/hr = 122.5 cc/hr

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 Stuff

Teratogens
Drug Results
Warfarin (Coumadin) Hypoplastic nasal bridge, chondrodysplasia punctata
Ethanol Fetal alcohol syndrome, microcephaly, CHD (septal defects, PDA)
Isotretinoin (Accutane) Facial and ear anomalies, CHD
Lithium CHD (Ebstein anomaly, atrial septal defect)
Penicillamine Cutis laxa syndrome
Phenytoin (Dilantin) Hypoplastic nails, intrauterine growth retardation, cleft lip and palate
Radioactive iodine Congenital goiter, hypothyroidism
Diethylstilbestrol Vaginal adenocarcinoma during adolescence
Streptomycin Deafness
Testosterone-like drugs Virilization of female
Tetracycline Dental enamel hypoplasia, altered bone growth
Thalidomide Phocomelia, CHD (TOF, septal defects)
Trimethadione Typical facies, CHD (TOF, TGA, HLHS)
Valproate Spina bifida

Chromosomal disorders
Trisomy 21:
● 5th finger brachydactyly & clinodactyly, upslanting palpebral fissures, epicanthal folds, redundant nuchal
skin, single transverse palmar crease, Brushfield spots (white/gray spots in periphery of iris), flat facial
profile, small, rounded ears, hyperflexible joints, poor Moro reflex, brachycephaly, wide 1st/2nd toe
spacing, short stature. hypotonia & often slower feeding noted early on.

14
 ● 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 flexion

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)

AFP UE3 hCG Associated conditions
low low high Down Syndrome
low low low trisomy 18 (Edward's syndrome)
neural tube defects like spina bifida associated with increase levels of
high n/a n/a acetylcholinesterase in aminonic fluid, or omphalocele, or gastroschisis, or
multiple gestation

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

● 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

15
aorta (and bicuspid aortic valve), low posterior hairline, prominent, low-set ears broad “shield” chest with
widely spaced nipples, excessive nuchal skin, hypothyroidism, decreased hearing, edema in hands/feet as
newborns, cubitus valgus (increased carrying angle of arms). Normal mental development.

Fragile X: #1 cause inherited mental retardation. Mostly in boys; intellectual disability + macrocephaly, long
face, high arched palate, large ears, macroorchidism after puberty.

VATER: Vertebral probs, Anal anomalies, Tracheal defects, Esophageal abnltys, Radius or Renal abnormalities
Potter sequence: lack of nl infant kidney fxn --> reduced urine output --> oligohydranmios --> constraint
● deformities: wide-set eyes, flattened palpebral fissures, prominent epicanthus, flattened nasal bridge,
micrognathia, large, low-set ears

Storage disorders
Disease Deficient/ builds up Features

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

B-hexosaminidase A
Tay-Sachs progressive developmental deterioration, not looking at parents,
(a GM2 gangliosidosis)
increased “startle.” Cherry-red spots in macula, sensitive to noise.

B-hexosaminidase A&B
Sandhoff
(a GM2 gangliosidosis)

Niemann Normal-appearing at birth, then hepatosplenomegaly, LAD,

Sphingomyelinase
Pick psychomotor retardation in first 6 mo, then regress more

Increased tone, strabismus, organomegaly, FTT, several years of

Gaucher B-glucosidase psychomotor regression before death. Classically can see flask-
shaped bones, eg. femur, on x-ray

Early in infancy: irritability , hypertonia, optic atrophy, severe delay

Krabbe galactocerebrosidase
& death in first 3 years of life

Older childhood: angiokeratomas in “bathing trunk area”; severe

Fabry B-galactosidase pain episodes, acroparesthesias (numbness / tingling in extremities),
can have cataracts too

A mucopolysaccharidosis. coarse facies, corneal clouding, kyphosis,

Hurler a-iduronidase hepatosplenomegaly, umbilical hernia, congenital heart disease. Aut-
rec

A mucopolysaccharidosis. Like Hurler’s but X-linked & no corneal

Hunter iduronate-2-sulfatase
clouding

Cherry red spot: think GM2 gangliosidoses (Tay-Sachs, Sandhoff) 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 stuff builds up--> big time high
AG met acidosis, and they get in trouble fast).

16
 Presents in first weeks of life (formula / breast milk) Most commonly deficiency in
Galactosemia
FTT, dehydration, listlessness, irritable, jaundiced galactose-1-P uridyl transferase.
(a disorder of
(indirect hyperbili), elevated LFTs, hypoglycemia,
carbohydrate
normal serum ammonia, mouse-like urine odor. Higher risk for e. coli sepsis.
metabolism)
Also may have cataracts, ascites. Tx: remove galactose from diet.

Sx develop in childhood (unlike other AA disorders)

Deficiency in phenylalanine
Moderate-severe MR, hypertonia, tremors,
PKU (a disorder hydroxylase (can’t convert
behavioral problems. Light complexion, fair skin,
of amino acid phenylalanine to tyrosine).
blonde hair (tyrosine needed for melanin!) mouse-
metabolism) Neonatal screened. Tx: restrict
like urine odor. If mom has PKU & isn’t managing
phenylalanine consumption
her diet, baby can have MR, CHD, etc.

Cystathione synthetase deficiency

Homocystinuria (can’t convert met to cys/ser).
no sx in infancy but look like Marfan’s.
(d/o of amino Dietary management hard (low
Vascular thromboses --> childhood stroke, MI
acid metabolism) protein, foul tasting). 50% respond
to high dose pyridoxine

X-linked OTC deficiency. Urea

Presents 24-48h after proteins introduced in feeds -
cycle problem (ornithine +
OTC Deficiency lethargy, coma/seizures, high ammonia.
carbamylphosphate --> citrulline in
(AA / urea cycle
mito). Can’t make urea = ammonia
disorder) Can measure level of orotic acid (byproduct of
builds up! Tx: very low protein
carbamoylphosphate metabolism) in urine to help dx
diet (but really hard)

Glycogen storage diseases: all aut-rec, growth failure, hepatomegaly, fasting hypoglycemia
● Type I: von Gierke, type II: Pompe, type V: McArdle
● Treat: prevent hypoglycemia while simultaneously avoiding even more glycogen storage.

Other Inherited Disorders

Autosomal Dominant
Chr Gene Comments
80% new mutations;
Achondroplasia 4p FGFR3
proximal limb shortening
Adult polycystic kidney dz 16p PKD1/PKD2 Renal cysts, intracranial aneurysm
Hereditary angioedema 11q C1NH Deficiency of C1 esterase inhibitor; episodic edema
Osmotic fragility test; some aut-rec variants too,
Hereditary spherocytosis 8p, 14q ANK1
spherocytes & anemia
Aortic root dilatation, tall stature, hyperextensible
Marfan syndrome 15q FBN1
long tapering fingers, etc.
2p, 17q, 50% new mutations;
Neurofibromatosis NF1/NF2
22q café au lait spots
Protein C deficiency 2q Multiple genes Hypercoagulable state

17
 9q, 12q, TSC1, TSC2,
Tuberous sclerosis “Ash-leaf” spots; seizures
16p TSC3, TSC4
Abnormal platelet fxn & reduced factor VIII,
von Willebrand disease 12p Multiple genes
ristocetin cofactor assay

Autosomal recessive
Chr Gene Comments

Congenital adrenal 6p CYP21A2, Multiple types - salt-wasting, virilization, etc.

hyperplasia CYP11A1,
CYP17, ACTHR

Cystic fibrosis 7q, 19q CFTR Caucasians; pancreatic insufficiency, lung dz, etc.

Galactosemia disorder 9p GALT Carbohydrate metabolism

Gaucher disease 1q GBA Ashkenazi Jews. Lysosomal storage disorder

Infantile polycystic 6p (or 16p = PKD3 Renal and hepatic cysts, hypertension
kidney PKD1, TSC2)

Phenylketonuria 12q PAH Amino acid metabolism disorder

Sickle cell disease 11p HBB Incr. in AA. Sickle crises, autosplenectomy, etc.

Tay-Sachs disease 15q HEXA Ashkenazi Jews. Lysosomal storage disorder

Wilson disease 13q ATP7B Defective copper excretion – chorea, KF-rings

Bruton agammaglobulinemia
Chronic granulomatous disease
Color blindness
Duchenne muscular dystrophy
Glucose-6-phosphate dehydrogenase
Hemophilias A and B
Lesch-Nyhan syndrome
Ornithine transcarbamylase deficiency
X-linked recessive
Comments
Absence of immunoglobulins; recurrent infections
Defective killing by phagocytes; recurrent infections
Proximal muscle weakness; Gower sign
Oxidant-induced hemolytic anemia deficiency, incr. in AA
Factor VIII / IX deficiency
Purine metabolism disorder; self-mutilation
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.

18
 ○ 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 laughter
○ Jerky arm movements, ataxic gait, tiptoe walk = “happy puppet” syndrome

GI/Nutrition
Normal caloric requirements:
● 120 kcal/kg/d in first year of life
● 100 kcal/kg/d afterwards
● 50-100% more if FTT for catch-up growth

Formula has 20 kcal/oz (30cc = 1 oz) generally (if prepared properly)

Feeding:
● Breast exclusively + vitamin D, iron for first 6 months (or formula)
● Add iron fortified cereals at 4-6 months
● Start baby foods at 6 months (fruits, veggies); introduce one new food at a time.
● Whole milk at 12 months until 24 months; skim milk at 24 months
● Don’t 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:

● Goat’s 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 don’t 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

Lithium, cyclosporin, antineoplastic agents, illicit drugs,

Most antibiotics except for tetracycline
ergotamines, bromocriptine (suppresses lactation),
Sedatives, narcotics (but monitor for sedation)
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

19
 ● Sx when taking milk; manage with lactose-free formula like soy milk

Toxicities:
Toxicity Sx / Dx

Look for hx of exposure

Sx: anorexia, hyperirritability, altered speech pattern developmental regression, abdominal

complaints. Can progress to encephalopathy (vomiting, ataxia, altered MS, coma, sz).

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

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

Organo- (cholinesterase inhibitors) - insect sprays, etc

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

Toxin found in Cortinarius spp of mushrooms

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

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

Cyanide Headache, agitation, seizure, dysrhythmia, severe metabolic acidosis

No sx if just a small bit (thermometer)

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

Methyl (contaminated fish)

mercury Adults: fine tremors in upper extrem, blurry vision, anosmia / taste probs, dementia, death
Infants exposed in utero: LBW, microcephaly, sz, developmental delay, vision/hearing probs

Inorganic (felt, “mad hatter”)

mercury Gingivostomatitis, tremor, neuropsych disturbances

Nausea, vomiting, abdominal pain, diarrhea; can get third spacing / hemorrhage in gut; also
Arsenic
long QT, CHF, sz, cerebral edema, coma. Get loss of DTRs, paralysis, dysesthesias neuro-wise

TCAs 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

Acetamino- Nausea, vomiting, diaphoresis over 24-48h

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

20
Anti- atropine, 1st generation antihistamines, etc.
cholinergics 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

CO 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)

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

glycol 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 acidosis

Methanol N/V, inebriation, increase in minute ventilation as met acidosis develops, blurred vision
Get serum methanol level; high AG met acidosis
Treat with ethanol to block metabolism, NaHCO3 to correct met acidosis

Salicylates Hypernea / tachypnea: mixed respiratory alkalosis & metabolic acidosis (see increased pH
with decreased PCO2 and bicarb). get serum salicylate level
Treat with activated charcoal & alkalinize serum, correct hypoK

Activated charcoal:
● Good for enterohepatic circulation drugs (TCAs, pentobarb) and those with prolonged absorption (e.g.
sustained release theophylline) to clear out from gut
○ Administer during first few hours after ingestion if indicated.
● Not good for alcohols, acids, ferrous sulfate, strong bases (drain cleaners, oven cleaners), cyanide,
lithium, potassium - not absorbed by particles on surface

Nutrients:

Nutrient Deficiency Excess

Night blindness, xeropthalmia (dry eyes), Increased ICP, anorexia, carotenemia,

keratomalacia (dry cornea), conjuncitivitis, hyperostosis (pain, swelling of long
Vitamin A
poor growth, impaired resistance to infection, bones), alopecia, hepatomegaly, poor
abnormal tooth enamel development growth

Rickets (elevated serum phosphatase levels

before bone deformities), osteomalacia,
infantile tetany. See low 24OHD, low Ca,
Vitamin D
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 Unknown

Can predispose to kidney stones

Vitamin C
Scurvy, poor wound healing (calcium oxalate). Also diarrhea,
(ascorbic acid)
cramps

21
 Beriberi (neuritis, edema, cardiac failure),
Thiamine (B1) Unknown
hoarseness, anorexia, restlessness, aphonia

Photophobia, cheilosis, glossitis, corneal

Riboflavin (B2) Unknown
vascularization, poor growth

Niacin Pellagra (dementia, dermatitis, diarrhea) Nicotinic acid = flushing, pruritis

Infants: irritability, convulsions, anemia.

Sensory neuropathy,
Pyridoxine (B6) Older patients on isoniazid: dermatitis,
also fever & pain
glossitis, cheilosis, peripheral neuritis

Megaloblastic anemia, glossitis, pharyngeal

Folate Usually none
ulcers, impaired cellular immunity

Pernicious anemia, neuro deterioration,

B12 Unknown
methylmalonic acidemia

Rarely depression, hypotension, muscle

Pantothenic acid Unknown
weakness, abdominal pain

Dermatitis, seborrhea, anorexia, mm pain,

Biotin Unknown
pallor, alopecia

Water-soluble forms can cause

Vitamin K Hemorrhagic manifestations
hyperbilirubinemia

Biliary Atresia: bile duts blocked, fibrotic --> no bile flow into bowel.
● Kasai procedure (bowel loop forms duct to drain bile from liver) can be useful.

Poor bile flow (biliary atresia, liver failure) = poor ADEK absorption

Primary (familial) hypophosphatemia: #1 cause of nonnutritional rickets, X-linked dominant dz

● abnl phosphate reabsorption; abnl 25vitD to 1,25vitD conversion in prox tubules of kidney abnormal
● Low 1,25vitD, low=normal Ca, low phosphate, elevated alk-phos, hyperphosphaturia, no hyperPTH
● Smoother lower extremity bowing (Ca-dependent rickets = more angular), waddling gait, no rachitic rosary,
tetany, etc.

Renal osteodystrophy: low/nL serum ca, incr. serum phosphorus, incr. alk phos.
● Hypophosphaturia --> hypocalcemia --> incr. PTH --> more bone turnover
● also low production of 1,25vitD with kidney damage

DDx of rickets: Schmid metaphyseal dysplasia (aut-dom, short stature, bowing legs, waddling gait)
● irregular long bone mineralization but normal Ca/phos/alk phos levels.

22
Comparison of Ca/Phos/PTH disorders

Ca Phos PTH Other

Genetic problem in tubular reabsorption of phosphate =

Vitamin-D resistant pee it out, low in blood; also abnormal 25vitD-1,25 convers.
NL Low NL
rickets X-linked dominant (family history of fx, low bone calcium
density)

AKA Albright hereditary osteodystrophy, like

Pseudohypo- hypoparathyrodism with high PTH. Also obesity,
Low High HIGH
parathyroidism brachydactaly of 4th/5th digits, cataracts, calcifications in
brain (periventricular & in basal ganglia)

Osteogenesis blue sclera, easily broken bones - abnormality in production

NL NL
Imperfecta & composition of bone matrix with normal ca/phos

unusual outside of neonatal period - low PTH --> reduced

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

MTC may make calcitonin but normal ca/phos/PTH unless

Medullary thryoid Ca NL NL NL
MEN type II (with associated hyperparathyroidism)

Intussusception:
● (bilious) emesis + intermittent abdominal pain, bloody stools (currant jelly = late finding), kid draws
up knees in pain.
● classically sausage-shaped / tubular mass on exam, often with lead point (lymphoma, meckel’s
diverticulum, etc) around ileocecal valve
● get air contrast enema for dx / tx

Malrotation/volvulus: think about in neonates with bilious emesis 2/2 obstruction.

● If prolonged, can have necrotic bowel - melena/hematochezia, peritonitis, acidosis, sepsis
● Malrotation: incomplete intestinal rotation in first trimester
○ Ligament of treitz - usually fixes duodenojejunal junction to L spine; here, ligament on R side, small
bit of mesentary can be axis for gut to turn around
● Volvulus: mesentary twists around small intestine --> decreased perfusion, ischemia, necrosis
○ Classic findings: corkscrew pattern of duodenum (barium going through twisted portion, looks
like corkscrew), or “bird’s beak” of 2nd/3rd duodenal portions. Get upper GI series to evaluate.
○ Requires emergent surgical intervention after fluid status evaluated & fixed if neded.
■ Also place NG tube to decompress; get cx and initiate IV abx (sepsis workup)
■ 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 erythromycin.
● 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 stable.

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Appendicitis: classically abdominal pain followed by nausea / vomiting; periumbilical to RLQ migration

Bloody emesis: think about M-W tears, NSAIDs, liver dz; also think juice, beets, red jello, liquid meds
Black stool: think about diarrhea, constipation / tears, etc; also think Fe ingestion, bismuth, blackberries

Gastric lavage can help determine if upper GI & brisk (prox to ligament of Treitz) or lower GI in bloody stools.

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

Condition Signs, sx
Abdominal migraines Recurrent abd pain with emesis
Appendicitis RLQ pain with guarding & rebound
Bacterial enterocolitis Diarrhea (+/- bloody), fever, vomiting
Cholecystitis RUQ pain
Diabetes mellitus Polys + weight loss
HSP Purpuric lesions, joint pain, blood in urine, guiac + stools
Hepatitis RUQ pain & jaundice
Incarcerated inguinal Inguinal mass, lower abd / groin pain, emesis
hernia
Intussuception Colicky abdominal pain, currant jelly stools
Malrotation with Abd distention, bilious vomiting, blood per rectum, presenting in infancy
volvulus
Nephrolithiasis Hematuria, colicky abdominal pain
Pancreatitis Severe epigastric abd pain with fever, persistent vomiting
PNA Fever, cough, rales
SBO Emesis, often hx prior abdominal surgery
Strep pharyngitis Fever, sore throat, headache
Testicular torsion Testicular pain, edema
Urinary tract infection Fever, vomiting, diarrhea in infants; back pain in older kids

Tracheo-esophageal fistula:
● most commonly involves esophageal atresia (blind pouch) with esophagus coming off of trachea proximal
to karina. Associated with VATER (Vertebral abnormalities, Anal abnormalities, T-E fistula, Radial/Renal
anomalies); DiGeorge syndrome (VSD, great vessel problems, esophageal atresia, bifid uvula, etc).
● Dx: Polyhydramnios in utero. After birth: failure to pass orogastric tube in a newborn who’s choking;
see coiled tube on film. At risk for aspiration (suction constantly while awaiting surgery)
○ H-type TEF can present later (several months of age with recurrent aspiration PNA)
○ Can also see with modified barium swallow with fluoro

Eosinophilic esophagitis: intermittent vomiting, dysphagia, epigastric pain; food getting “stuck”, no help from
acid blockade (vs GERD).

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 ● Eosinophils on biopsy. Can have atopic / food allergy hx. Rx with corticosteroids.

Peptic ulcer disease: kid with FHx PUD or PUD sx, nocturnal abd pain, GI bleeding (pain #1 sx)
● Get upper GI endoscopy
● Test for H. pylori (e.g. urea breath test), treat with acid blockade / abx triple therapy

Hirschprung: suspect in children with intractable chronic constipation without fecal soiling
● Neonatal hx delayed passage of meconium - can have distention, N/V
● Also at risk of developing enterocolitis.
● Bx: increased acetylcholinesterase, absence of ganglia cells.
○ Also have failure of internal sphincter to relax with balloon distention of the rectum on anal
manometry. Can see transition zone on contrast enema (dilated proximal bowel; abnormally
narrow distal segment which is aganglionic).
● Tx: surgery (colostomy, pull-through)
● Vs functional constipation where you more often see overflow diarrhea

Meckel diverticulum: painless rectal bleeding in first 2 years of life

● remnant of the vitilline duct (connects yolk sac / intestine; here stays as diverticulum connected to ileum)
● 1.5% of population has it, but rarely causes symptoms
● If symptomatic, usually has acid-secreting gastric mucosa in lining; can lead to ulcerations, bleeding,
diverticulitis, rarely perforation or can undergo eversion / intussuception
● Dx with Tec-99 scan (labels gastric mucosa), fix with surgical excision.

Overweight Syndromes:
● Prader-Willi: hypotonia, hypogonadism, hyperphagia after newborn period, MR, obesity
○ deletion in Paternal chromosome 15. Little in utero movement.
○ hypotonic as neonates and can initially have FTT / feeding problems
● Laurence-Moon-Biedel (Bardet-Biedel): aut-rec trait, obesity, MR, hypogonadism, polydactyly,
retinitis pigmentosa with night blindness
● Frohlich syndrome: childhood obesity associated with hypothalamic tumor

GU/Urinary
Labial adhesions: benign condition, fused labia majora, common in preadolescent (low estrogen) girls
● Can cause urine pooling - increased UTI frequency
● Will resolve with puberty / estrogen, but can also apply estrogen cream x 1 week to help resolve.

Non-specific vulvovaginitis: brown, green discharge, malodorous, burning with urination = urine on irritated skin
● Check for bubble baths, tight fitting clothes, perfumed lotions used in vaginal area, improper toilet
habits (wiping toward vagina)

Foreskins & stuff

● adhesions between glans / prepuce lyse within first 3 years of life in 90%, glans exposed
○ Can see cellular debris (white) under foreskin, not abnormal, no tx needed
● Phismosis = inability to retract foreskin. Physiologic in first years of life. After age 3, pathologic
● Paraphismosis = painful, foreskin gets retracted, trapped behind glans --> edema, venous congestion -->

25
 can’t get it back into place!

Hypospadius: Don’t 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
doesn’t 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! Don’t 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 doesn’t need Doppler, can feel bag of worms and then reassure / educate unless probs.

Epididymitis: see redness, warmth, scrotal swelling but preserved cremasteric reflex. Pain usually posterior
(over epididymis). Vs torsion, here the testicle is not elevated

Hematology

Anemia
Physiologic anemia: nadir at 6 wks of age in preemie, 2-3 mo in term infant

Microcytic anemia with decreased RBC production: impaired heme or globin production!
● thalassemias, iron deficiency, some anemia of chronic disease (all hypochromic too). Occasionally lead
poisoning can do it too
● Iron deficiency anemia: low iron, high TIBC, low ferritin
○ If iron deficient - give oral iron (preferred form)
● Anemia of chronic disease / inflammation: low iron, low TIBC, high ferritin
● Thalassemias:
○ Alpha-thal: can be cis or trans (alpha deletions on one - cis - or both - trans - genes). Think SE
Asia, mediterranean, etc.
■ If homozygous (all four), then Hb Bart (4 gammas, hydrops fetalis) - more common
in SE asia because of more cis mutations.

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 ■ 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 reticulocytopenia.
○ Hb is usually at nadir at dx time. Only transfuse if CHF developing
● Also on ddx: Parvovirus B19-induced aplastic anemia, drug tox from myelosuppressive agents, or
acute blood loss. anemia of chronic disease can also be normocytic.

Normocytic anemia with increased red cell production: most often hemolytic
● Extracorpuscular: extrinsic to red cell
○ Isoimmune: Ab from one individual destroying RBC of another. ABO/minor Ag incompatibility
○ Autoimmune: idiopathic, postinfectious (Mycoplasma pneumoniae, EBV), drug-induced (PCN,
quinidine, alpha-methyldopa), or chronic autoimmune dz (SLE) or malinancy (NHL)
○ The antibodies for either of the above can be...
■ Warm-reacting IgG: warm weather is Great; fix c’ but don’t 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 hyperbilirubinemia.
■ 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.

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 ■ 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 can’t 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 crisis

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 tapeworm).
○ 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 differentiate 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 (goat’s 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 won’t fix neuro problems!

Megaloblastic macrocytic anemias

● Diamond-Blackfan Syndrome: congenital pure red blood cell aplasia, aut rec or aut dom
○ 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, idiopathic
○ 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 pancytopenia
○ 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 leukemias

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 ○ 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 don’t really blast with chemo / radiation doses (can’t repair!)

Characteristic smear findings

● Howell-Jolly bodies - seen in asplenic patients (small bits of nuclear renmants in nucleus)
● 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 test
○ 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 mom’s 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)

Thrombocytopenia
● 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: Mom’s IgGs can cross placenta, destroy fetal platelets
--> treat with IvIg / corticosteroids after birth until maternal ab disappear.
● 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 well-appearing 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, diff 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 ppx)

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.

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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 effect

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 can’t 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
○ Don’t do phototherapy for conjugated hyperbili (will bronze the skin & not help).
● 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 levels
● 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

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 ● Presents within 1st 24h; direct Coomb’s positive

Gilbert’s syndrome: negative coomb’s, nL/low Hb, nL/high retic, hyperbilirubinemia, unconjugated hyperbili
Crigler-Najjar: deficiency of UDP glucuronyosyltransferase (severe deficiency = can’t conj = high unconj bili)

Conjugated bili: if high, think obstruction of biliary tree (e.g. choledochal cyst).
● Could also be biliary atresia or other things that interfere with excretion

Necrotizing enterocolitis: transluminal, mucosal necrosis in premature infants; sporadic usually

● Pneumatosis intestinalis on AXR (bacterial gas production in bowel wall) is pathognomonic
● 5-10% of VLBW babies. See feeding intolerance with bilious aspirates, abd distention, blood / heme+
stool, can end up in shock! Leukocytosis, neutropenia, thrombocytopenia, met acidosis too.
● Tx: discontinue feeds & place an NG tube to suction. Give systemic abx & send cx. Get q6h AXR to
monitor for pneumotosis, free air. Give IVF for shock.
● Will need surgery if free air seen or necrosis suspected. If not, 14d bowel rest & broad abx.

Immunology
Immunodeficiencies
Neutrophils, monocytes can’t kill staph aureus, candida,
aspergillus (produce catalase) and GNRs - recurrent infections
Chronic Poor superoxide
with those organisms.
granulomatous dz generation
Get NBT (nitroblue tetrazolium) test.
Give daily TMP-SMX & gamma-interferon ppx

Disorder of
Recurrent sinopulmonary, oropharyngeal, cutaneous infections
Leukocyte adhesion leukocyte
(Staph, Enterobacteriacea, Candida). Delayed wound healing.
deficiency chemotaxis,
Failure of umbilical cord to separate. Neutrophilia (>50k).
adherence

Aut-rec or X-linked
Decr. serum Ig, T-cells. Thymic dysgenesis
Both humoral &
SCID Recurrent cutaneous, GI, pulm infections with opportunists (CMV,
cellular
PCP, fungi). Death in first 12-24 mo unless BMT performed
immunodec.

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

22q11 Also velocardiofacial manifestations: abnormal facies (wide-set
microdeletion eyes, prominent nose, small mandible), cleft palate, VSD / tetFal.
DiGeorge
Decreased T-cell Thymic / parathyroid dysgenesis = hypocalcemia, seizures.
production CATCH-22 (cardiac, abnormal facies, thymic hypoplasia, cleft
palate, hypocalcemia on chromosome 22)

Wiskott poor Ab response X-linked rec with increases in serum IgA, IgE
Aldrich to capsular Classic triad:
polysaccharides, T- 1. Thrombocytopenia (15-30k with small plts)
cell dysfunction 2. Eczema
(combined B&T) 3. Recurrent infections (Pneumococcal otitis media, PNA
from poor Ab response to capsular polysacch; fungal /

31
 viral by T-cell dysfunction)

Primary B-cell
XLA: X-linked Presents after 3 months of age (mom’s Ab go away)
deficiency (all 3
agammaglobulinemia Recurrent / simultaneous bouts of otitis media, PNA, diarrhea,
classes of Ab
(Bruton’s) sinusitis at different sites but not fungal or viral infections
decreased)

Common Variable Humoral / B-cell Hypogammaglobulinemia (low IgA, IgG); inherited disorder;
immunodeficiency less severe infections than XLA

Mildest, most common immunodeficiency. Normal levels of other

Selective IgA
Humoral antibody classes. viral response OK but susceptible to bacterial
deficiency
infections of resp, GI, urinary tracts

disorder of
Job syndrome phagocytic Elevated IgE, eczema-like rash, recurrent, severe staph infections
chemotaxis

immunodeficiency, cerebellar ataxia, oculocutaneous

Ataxia- variable humoral &
telangiectasia - most pts wheelchair bound by puberty, die
telangiectasia CMI defects
prematurely

Complement C5-C8 (terminal C’) N. meningitidis infections!

deficiency is classic form Also higher risk of rheumatologic disease

Testing:
● assess B-cell function by looking at Ab titers against tetanus, diptheria, pneumococcus after vax
● assess T-cell function by looking at DTH reaction
● lab testing too for titers, cell sorting, etc

Drug eruptions
e.g. amox allergy, also after adeno,
Type IV / V
maculopapular, coalescing rash, EBV, other viruses
Morbilliform hypersensitivity
especially truncal / centripetal Tx: Stop abx, can give
(not immediate)
antihistamines if required

Immediate erythema, e.g. immediate drug eruptions, can

vasodilation, raised lesions with Type I also be viral (& last for weeks!).
central clearing & serpiginous hypersensitivity Food, new exposures are less
Urticarial
border, dermographia, transient (mast cells, common
/ evanescent (gone in 30m), histamine release)
move around Tx: stop abx, antihistamines

Fixed, targetoid, acral lesions;

Type III
center can look necrotic. Palms / Can deposit in joints, won’t walk
Erythema hypersensitivity
soles too, can have arthralgias. “Serum sickness” is a more systemic
multiforme (antibodies!) Can
7-10d after exposure (not form
also be from HSV
immediate)

SJS/TEN Big bullae, big, flat macular Antibody SJS if < 10% body surface, “overlap”
lesions, then bullae, involves independent if 10-30%, TEN if > 30%

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 mucous membranes
Drugs can trigger, also mycoplasma

Drug eruption with

eosinophilia & systemic sx
Papular, follicular rash; Lymphocytic 8-10% mortality. Give steroids, IVIG
DRESS
eosinophila, leukopenia; can get mediators HHV-6, sulfonamides key
hepatitis, pneumonitis, leaky
capillaries --> edema

Hypersensitivity
● Type I: anaphylactic reactions. Often IgE mediated. Basophils, vasoactive substances like histamine, etc.
● Type II: Ab-mediated cellular cytotoxicity
● Type III: Immune complexes
● Type IV: DTH (T-cell mediated). Skin tests (PCN, carabapenems), etc.

Anaphylaxis:
● If voice is changing, worry about the airway! Establish the ABCs before everything else!
● Then consider subQ epinephrine, diphenhydramine, etc.

Hereditary angioedema: usually inherited C1 esterase inhibitor deficiency.

Allergic rhinitis: usually doesn’t present til 5-6 years old (if younger, think infectious rhinitis / sinusitis)

Infectious Disease

STIs
Urethritis:
● Gonoccocal urethritis: a “drip” - dysuria, mucopurulent urethral discharge, oropharynx/skin too
○ 2-5 days incub. Dx with urine PCR or cx on Thayer-Martin agar; can also swab
● Treat with IM ceftriaxone x 1 or oral cefixime
● Chlamydia urethritis: a “drip” - dysuria, mucoid discharge; dx by PCR, 5-10 day incub.
● Other non-gonoccocal urethritis - ureaplasma, mycoplasma genitalium
● Treat with azithromycin x 1 or 1 week of doxy / eryrthro
● DDx:candidal balanitis (uncirc boy with whitish overgrowth; rx clotrimazole topical), inflamed
condyloma
● Remember PID after GC/chlam - fever, cervical motion tenderness, lower abd pain, discharge,
dysparenuria, irregular menstruation - consider in sexually active woman with adnexal or cervical
tenderness, fever, discharge, irregular periods, elevated ESR/CRP
○ Treat with ceftriaxone x1(GC) + doxycycline x 14 or azithromycin (chlamydia), can also add
clinda for anaerobes
○ Fitz-Hugh-Curtis syndrome: ascending pelvic inflammation of liver capsule, diaphragm. Patient
with RLQ and RUQ pain (over gallbladder) - PID + liver problems

HPV: 6,11 cause warts; 16,18 cause cervical cancer

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LGV: Painless genital papule --> resolves --> unilateral draining inguinal lymphadenopathy
● 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 FTA-ABS
● 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. aorta.
● 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 don’t eradicate; can be used as ppx to reduce
frequency of recurrences but doesn’t 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 = diffuse 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 (whiff 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.

34
Congenital Infections: TORCH (Toxo, Other - VZV / syphilis, Rubella, Cytomegalovirus, HSV)

Features Treatment Comments

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

Toxo 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)

Rubella 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). Don’t give MMR
vaccine during pregnancy
(very low risk but can get
fetal dz).

HSV Disseminated dz in multiple organs (liver / Acyclovir Most HSV-2 (reflects genital
lungs). HSV-1: localized CNS disease w/ or herpes rates); infected
w/o sz; HSV-2: often skin, eyes, mouth. through vaginal canal (most
is actually perinatal).

VZV Congenital varicella syndrome if < 20 wks)
- limb hypoplasia, cutaneous scarring,
eye / CNS abnormalities
Neonatal chickenpox if > 20 wks:
generalized pruritic vesicular rash +- bact
superinfection, PNA, CNS involvement
(cerebellar ataxia & encephalitis),
thrombocytopenia
VZ IG: immediately after Isolate if neonatal
delivery if mom’s chicken pox chickenpox (not congenital
starts w/in 5d of delivery, or varicella syndrome).
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.

Syphilis Within 1 month of birth: Get an LP, CSF VDRL to Mom with untreated
hepatosplenomegaly, mucocutaneous diagnose, give parenteral infection --> transplacental
lesions, jaundice, LAD, snuffles (bloody, penicillin G (IV or IM) infection. Most likely during
mucopurulent discharge). Longer-term 1st year of infection. 50%
sequelae: saber shins, anemia, die shortly before / after
thrombocytopenia, Hutchinson teeth, birth
deafness, MR.
Also HIV: remember to get PCR, not relying on ab tests in kids who still have mom’s IgG!.

GBS:
● Early: think PNA (sepsis too)
● Later: think osteomyelitis, meningitis, septic arthritis (places where it needs to seed first!)

CA-MRSA treatment: TMP-SMX or Clinda if > 5 cm; I&D and observe if < 5 cm
Lyme disease treatment:
● Doxy for less severe manifestations: acute arthritis, erythema migrans, facial palsy, peripheral neuropathy
● Ceftriaxone for severe manifestations: meningitis, carditis

35
Food poisoning:
● S. aureus: immediate reaction to food
● Coxsackie: lesions in the oropharynx
● B. cereus: rice
● Adenovirus: if respiratory sx along with GI, conjunctivitis
● Rotavirus: should have been exposed by 2-3 years old. Can get really high fevers, febrile sz.

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 diffuse salmon-colored rash; tender swelling of multiple large & small joints
○ Rash looks like measles but doesn’t coalesce
● Roseola: From HHV-6. High fever, which then resolves, and maculopapular rash appears.
○ Can cause febrile seizures in fever stage.
● Erythema infectiosum (“Fifth disease”, from parvo B19). “slapped cheeks” rash, then reticular rash
spreading out to extremities.
○ Can cause transient aplastic crisis in kids with Hb problems (e.g. SCD).
● Varicella: dew drops on rose petals, not on palms/soles (can have some oral lesions), different stages.
○ 7-21d incubation, most contagious just before rash, isolate until all crusted
○ Vaccine effective. Can give acyclovir if chronic pulm dz, > 12, on salicylates / steroids
○ Vs smallpox, which has same-aged lesions
● Hand-foot-mouth: from coxsackie A1c.
○ Incubation 4-6d, 1wk rash, 1-2d prodrome (fever, anorexia, sore throat)
○ Herpangina - ulcerated vesicles on tongue, posterior pharynx
○ Diffuse vesicles / pustules / papules on erythematous base on hands, soles and hard palate
● Rocky Mountain Spotted Fever: from Rickettsia rickettsii, gram-neg intracellular bacterium. Proliferates
inside endothelial cells --> thrombosis, increased vascular permeability. Highest between April /
September in south Atlantic states; tick-borne illness.
○ See fever, H/A, rash 7d after tick bite; nonspecific sx then rash on 2-5th day with blanching,
erythemaouts, macular lesions that progress to petichiae, purpura starting on wrists/ankles
and spread proximally to head / trunk over several hours; palms / soles involved too.
○ Treat with doxycycline in all ages
● Lyme: Borrellia burgdorferi; first see erythema migrans 3-30 days after bite.
○ Early disseminated (days/wks) = multiple erythema migrans, CN palsies, meningitis, carditis
○ Late (>6wks) - arthritis (usually knee)
○ Treat with doxycycline if > 8 years old; oral amox or cefuroxime for kids < 8 (can’t use doxy)
■ If vomiting, arthritis, cardiac dz, neuro involvement - use IV PCN G or ceftriaxone
● Molluscum: pearly lesions with central umbilication; can be in linear arrangements
○ Spontaneous resolution over months / yrs; can currette but can disfigure, contagious
● 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

36
 ○ 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 impetigo)
○ Most commonly S. aureus, also GABHS
○ Tx: keep clean, can use topical abx if local, cephalexin / augmentin / clinda if widespread
● Scarlet fever: sandpaper rash, strawberry tongue, desquamation of palms / soles, palatal petichiae
(most sensitive findings), can have purulent pharyngitis or just be asymptomatic
○ 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 stuff:

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 stuff:

● 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 affected by timely abx therapy
○ 10 days after infection: see hematuria, edema, oliguria, HTN with low C3
○ Give PCN & diuretics; steroids don’t 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 retropharyngeal
● Get lateral cervical x-ray
● etiologies: strep pyogenes, staph spp, h. flu, peptostreptococcus, bacteroides, fusobacterium.
○ 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

37
EBV: remember that Monospot / heterophile Ab test doesn’t 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 (“Swimmer’s 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
Lung findings:
● Staccato cough: with croup or chlamydial PNA
● Eosinophilia: think chlamydial
● Biphasic stridor (insp & exp) and high fever - think bacterial tracheitis
○ Often viral URI sx first, then rapid increase in temperature, resp distress with secondary bact. inf.
○ Kids look toxic! intubate & use IV abx
○ DDx includes epiglottitis, etc.

Pertussis: “Whooping cough” in neonates, infants (nonspecific URI in adolescents & adults)
● Spread via aersolized droplets from coughing. Highly infective if unimmunized. Immunity from vax wanes.
● Course:
○ 7-10 d incubation, then catarral phase (low grade fever, cough, coryza), then
○ 2-6 wk paroxysmal phase (whooping on deep, sudden inspiration during intense coughing
spasm), posttussive emesis, can get facial petechiae, scleral hemorrhage from forceful coughing.
Young infants can’t whoop (can’t 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 status.

38
 ● neonatal immunity not dep. on mom’s immune status (transplacental Ab not 100% protective)
○ 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% sensitive
● Treat: cool mist, racemic epi nepbs, IV corticosteroids.

Epiglottitis: classically H flu B, now can be strep pneumo. Kids look toxic, drooling, tripoding, thumb sign.
● Requires emergent intubation & IV amp-sulbactam or 3rd gen cephalosporin emprically.

Bronchiolitis: viral LRTI infection, usually RSV (also paraflu, hMPV, flu, adeno) between Nov & April
● Classically young kids (2-5 months most hospitalized); also preemies, CLD, etc. w/ family members w/ URI
● RSV makes a syncitum of the ciliated epithelial cells; inflammation, plugging results.
● Have fever, tachypnea, variable resp distress, often with wheezing, ronchi, crakles, etc.
○ CXR: hyperinflated, peribronchial thickening (“cuffing”), increased interstit. markings
○ Lasts 5-10 days, then recover over 1-2 weeks.
● Treat: supportive, mostly outpatient. Corticosteroids, beta-agonists not helpful (but if not sure if first-time
asthma, often may try in ED for a course). Use palivizumab (monoclonal RSV Ab) for passive ppx in kids at
risk (<2 yr old ex preemies, kids with CLD needing oxygen), etc.

PNA (LRTI) organisms

First few days of life ● 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 yrs ● 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 cephalosporins

● 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

39
Treament basics:
● Outpatient: usually high dose amox or augmentin.
○ Can use azithromycin if “walking PNA” (mycoplasma, c. pneumo) suspected
○ Give azithromycin for C. trachomatis PNA in infants
● Hospitalized: use IV abx
○ < 28 days: amp & gent to cover GBS, etc. These kids get hospitalized (r/o sepsis)
○ 1 mo-3mo: ceftriaxone +/- macrolide
○ 4 mo-4yrs: ceftriaxone + clinda (s. pneumo, ?MRSA)
○ 5-15yrs: macrolide +/- ceftriaxone +/- clinda (atypicals, s. pneumo, ?mrsa)
○ Amp/sulbactam, clinda, ceftriaxone, azithromycin, vanc may be needed.

S. aureus PNA can cause tension PTX (via toxin --> rupture of alveoli).
● Mostly associated with empyema though - which you can’t drain (rx with vanc!)
● Can also cause pleural effusion

Pneumococcal PNA: often with sudden onset of fever, cough, chest pain
● Can fail outpatient therapy if amox (need high dose PCN, cefuroxime, amox/clav, or even vanc!)

Sepsis:
● Early-onset (1st 6 days): think birth canal (GBS, H. flu, E. coli, Listeria)
○ Treat with amp/gent
● Late-onset (7d-90d): think environment (coag-neg staph, S. aureus, E. coli, Klebsiella, Pseudomonas,
Enterobacter, Candida, GBS, Serratia, Acinetobacter, anaerobes)
○ Treat with vanc / 2nd or 3rd gen cephalosporin (vanc/cef, etc)

● GBS is #1 cause sepsis in 1st 3 months; 80% are early onset (septicemia, PNA, meningitis) from vert trans
○ Often see resp signs first: apnea, grunting, tachypnea, cyanosis in 80%, hypotension in 20%
○ 50% develop seizures within 24h.
○ Associated with prolonged rupture of membranes, apnea, hypotension in 1st 24h life, APGAR <
5 @ 1 min, rapidly progressing pulmonary disease. Early GBS: increased risk with ROM > 18h,
chorioamnitis, intrapartum T > 38C, previous GBS+ infant, young mother < 20, LBW or
prematurity
○ Prevent with screening @ 35-37 wks gestation. Use intrapartum abx if needed.
● Listeria: gram + rod, rare infections in USA, from soft cheeses milk, undercooked chicken, hot dogs, etc.
○ Acquried transplacentally or by aspiration/ingestion at birth
○ Brown-stained amniotic fluid, febrile mom, erythematous pustular rash on baby, pallor, poor
feeding, tachypnea, cyanosis, MONOCYTOSIS on CBC, 30% mortality for early onset dz

Meningitis
Organisms by age of patient:
< 1 mo Seeding from mom: GBS, E. coli, GNRs, HSV, Listeria. Also strep. pneumo

1-2 mo E. coli, S. pneumo, enteroviruses, HiB, GBS

2mo-6y S. pneumo, N. meningitidis, enteroviruses, borrellia burgdorferi, HiB

40
 >6 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
WBC PMNs Protein Glucose

Bacterial > 1,000 > 75% Very high Very low

Viral < 500 < 50% (more lymphs) Normal / high Normal

Lyme < 100 < 30% (lots of monos) Normal / high Normal

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, hydrocephalus)

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 months
○ gastroenteritis, meningitis, osteomyelitis, bacteremia = non-typhoidal presentation
■ 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 shedding)
● Camyplobacter
● E. coli (EHEC: can cause bloody diarrhea but often with no fever; EIEC = no blood)
○ Culture on MacConkey sorbitol to diagnose O157:H7

41
 ● Yersinia a/w reactive arthritis, erythema nodosum. Can localize to RLQ (“pseudoappendicitis)
● Dx: Get stool cx, fecal leukocytes (just indicates inflammation)
○ HUS: in E. coli O157:H7, #1 cause acute renal failure in kids - usually younger than 4 yrs
■ 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.

Common Parasite
Source Signs/sx Dx Tx
name name(s)

Most asx. Stool: see eggs,

Albendazole,
Hemoptysis, pulm occasionally
Ascaris mebendazole, pyrantel
Ascariasis Fecal-oral infiltrates, abd pain, adult worms in
lumbricoides pamoate, piperazine to
distension, stool or coughed
clear obstruction
obstruction up

Pruritis, rash @ entry

Ancyclostoma Mebendazole,
site. Epigastric pain,
duodenale, Ovoid eggs in albendazole, pyrantel
Hookworms Penetrate skin diarrhea. Anemia
Necator stool pamoate, also iron
from blood loss, resp
americanis supplement
sx

Pyrantel pamoate,
Enterobius Nocturnal perianal Tape test (O&P
Pinworms Ingestion of egg mebendazole,
vermicularis itching not useful)
albendazole

Larvae
Larvae in feces,
penetrate skin, Epigastric pain, emesis,
Strongyloides or string test to Ivermectin,
Strongyloids to lungs, to diarrhea,
stercoralis sample duodenal thiabendazole
intestines, can malabsorption, wt loss
fluid
go back & forth

Visceral: self limited.

Egg ingestion
Fever, cough, abd pain; Ocular:
(soil Clinical pres,
Visceral / hepatomegaly, diethylcarbamazine,
contaminated serologic testing,
ocular larva Toxocara spp ronchi, wheezing, albendazole,
with dog/cat microscopy of
migrans skin lesions, mebendazole (but all
feces) - kid tissue
eosinophilia drugs can cause
eating dirt!
inflammatory rxn!)

42
 Proctitis, bloody
Trichuris Lemon-shaped Mebendazole /
Whipworms Egg ingestion diarrhea, abd pain,
trichiuria eggs in stool albendazole
rectal prolapse

First wk: abd pain,

N/V, malaise. Then: Organisms can become
Trichinella uncooked pork, Eosinophilia on
Trichinellosis muscle invasion: encysted, stay viable
spiralis other raw meat labs.
edema of eyelids, for years in muscle
myalgia, wknss, fever

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+)

UTIs
● Sx: fever > 39, vomiting/diarrhea, fussiness in kids
● At risk:
○ Voidingdysfunction (neurogenic, willful/behavioral, pinworm)
○ Constipation and behavioral problems
○ Recent antibiotic use
● Labs:
○ 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 they’re not taking PO. IV cephalosporin is a first-line choice for meds in that case
● 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
● Treatment:
○ 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, can’t 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
● DDx:

43
 ○ OME: fluid (poor mobility of TM) but no evidence of inflammation (gray/clear TM, no sx)
○ Myringitis: inflammation of TM but normal mobility, usually with viral URI
○ Otitis externa: ear pain, worsened with manipulatino, canal hurts.
○ Mastoiditis: anteriorly displaced earlobe, high fever, tender. Give IV abx & may need surg
● Tx:
○ Abx if younger than 24 months, at risk for poor follow up, ill appearing, immunodeficient, or with
recurrent / severe / perf’d 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)

Vaccination:
● 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 baker’s yeast
● MMR: anaphylaxis to neomycin, gelatin; also pregnancy, immunodeficiency
● IPV: anaphylaxis to streptomycin, polymyxin B, neomycin
● Varicella: anaphylaxis to neomycin, gelatin

Neonatology
APGAR:
Score 0 1 2

Appearance Blue, pale Acrocyanosis Completely pink

Pulse Absent <100 bpm >100 bpm

Grimace No response Grimace Cough / sneeze

(reflex irritability to nose suction)

Activity Limp Some flexion of extremities Active motion

Respiratory effort Absent, irregular Slow, crying Good

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

44
 ● From incomplete evaculation of fetal lung fluid in full term infants
● More common with C-section, disappears in 24-48h of life, can give supplemental oxygen PRN
● Perihilar streaking & fluid in fissures on CXR.

Meconium aspiration syndrome: aspiration during delivery --> respiratory distress

● hyperinflation + patchy infiltrate on CXR
● Can see air trapping which can lead to PTX, especially if you use PEEP
● endotracheal intubation + direct suction ‘em out before thorax delivered (before 1st breath)
○ May need some iNO for pulmonary HTN

RDS: preemies, surfactant deficiency, give ‘em surfactant. Lungs mature starting at 32 wks.
● ground glass reticulonodular pattern with air bronchograms, decreased aeration on CXR
● Lecithin:sphingomyelin ratio > 2 is predictive of good lung development
○ Maternal steroid administration can speed up production of surfactant; also PROM, stress,
maternal narcotic addiction, preeclampsia, hyperthyroidism, theophyllin
○ Maternal diabetes (fetal hyperglycemia, hyperinsulinemia) can slow down surfactant production
● Give surfactant, then decrease FiO2 to reduce O2 toxicity (<60% FiO2 is better). May need NC / CPAP /vent

Apnea of prematurity: apnea > 20 sec (or with cyanosis / sx or brady < 100 bpm)
● Usually mixed central / obstructive.\ picture.
● DDx vs periodic breathing (normal in neonates, infants) - pauses of 5-10s with rapid breathing aftewards
● A/w bradycardia (<80bpm in newborn). Needs BVM if hypotonic, pallor. Treat by maintaining skin
temp, supplemental O2, tactile stimulation, caffeine to sitimulate respiratory center. Monitor for ~7d
without A/B episode; can send home with apnea monitor for period of time as well.

CDH: herniation of abdominal contents, usually L side, leads to pulmonary hypoplasia.

● Mostly left posterolateral diaphragm defect (Bochdalek hernia)
● See immediate respiratory distress, scaphoid abdomen, cyanosis, heart sounds displaced to right side;
diminished breath sounds on same side
● Don’t bag & mask (bowel gas accumulates in chest, get worse) - INTUBATE!
● Don’t 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 ID’d on prenatal ultrasound, causes pulmonary hypoplasia but stomach &
intestines in the right place

Omphalocoele: viscera herniate @ umbilicus into sac covered by peritoneum, amniotic membrane.
● A/w beckwith wiedemann. Polyhydramnios in utero.
● Management: Do C-section to prevent rupture of sac. If small, repair. If large, cover with prosthetic
material, reduce, & repair later (not a surgical emergency if sac intact).
Gastroschisis: no sac, herniation of intestine through abdominal wall lateral to umbilicus.
● Polyhydramnios in utero. Management: surgical emergency (put Silastic silo over exposed bowel; reduce
over days)

IVH (intraventricular hemorrhage) - especially in VLBW babies, first 3 days of life, many asx.
● Dx with anterior fontanelle U/S (all VLBW should be screened with one)

45
 ● Manage by maintaining cerebral perfusion but controlling intracerebral pressure. Follow with U/S.

HIE (hypoxic ischemic encephalopathy) - big cause of neonatal morbidity / mortality. Often 2/2 intrapartum event
● #1 cause of neonatal seizures; often present with severe perinatal deprssion / asphyxia needing resusc.
● #1 predictor of long-term morbidity = neuro exam @ 1 week of life (good if able to take full oral feeds,
normal exam - chances for full recovery very good).

Muscular torticollis: neck twisted to one side in neonate s/p difficult delivery (big/breech), palp. SCM mass
● Get radiographs to rule out cervical spine injury before doing any stretching!
● Treat initially with passive SCM streching. Can lead to facial asymmetry if not taken care of.
● DDx:
○ Klippel-Feil syndrome: congenital fusion of portions of cervical vertebrae, restricted neck
movement, short neck, low hairline. A/w Sprengel defomity (congenital elevation of scapula),
structural urinary tract abnormalities
○ Sandifer syndrome. GERD, hiatal hernia, and head posturing (can look seizure like). Get
esophageal pH probe to look for reflux!
○ Dystonic reaction to meds (metoclopramide or antipsychotics) - tx with diphenhydramine
○ Also retropharyngeal abscess, tumors, dystonia, Wilson dz, syringomyelia, other stuff

Apt test: helps distinguish ingested maternal blood from baby’s blood in neonate with bloody stool
● (fetal hemoglobin is alkali resistant)

Subgaleal hematoma: Bleed into subaponeurotic space; crosses suture lines, expands rapidly
● can lose big blood volume / get hemodynamically compromised - take to NICU!
Cephalohematoma: Bleed btwn skull and periosteum (rupture of bridging vessels); does not cross suture lines
● Especially after prolonged delivery; usually doesn’t 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 can’t 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

46
 deprivation, intermittent fetal hypoxemia --> decrease in glycogen storage & polycythemia
○ Glc: 30-40 is normal in full-term infant in 1st postnatal day
○ Ca: decline during first 2-3 postnatal days; only abnormally low below 7.5-8 mg/dL
○ HyperMg: common when mom got MgSO4; asx or floppiness
○ Hct > 65% = polycythemia; get increased blood viscosity
■ Hypervisocity syndrome: tremulousness, jitters --> sz (sludging, thrombi); can also
lead to priapism, necrotizing enterocolitis, tachypnea, etc. Don’t 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 affected 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 differ 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 malformations.
● 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, polycythemia

47
Polyhydramnios if fetus can’t swallow (abdominal wall defects, diabetes, anencephaly, myelomeningocoele,
esophageal / duodenal atresia, diaphragmatic hernia, cleft palate)
Oligohydramnios if fetus can’t excrete fluid.
● Potter sequence if bilateral renal agenesis (clubbed feet, compressed facies, low-set ears, scaphoid
abdomen, diminished chest wall size). Higher risk of resp failure than renal insufficiency.

Neonatal hypoglycemia: may have transient blood glucose in 30s and be OK; definition is <40.
● But persistent BG < 60 - look for pathology (inborn errors of metabolism, IDM, etc)

Fetal exposures
Fetal alcohol syndrome:
● small for gestational age, microcephaly, small palpebral fissures, short nose, smooth philtrum, thin
upper lip, ptosis, micropthalmia, cleft lip/palate, CNS abnormalities (average IQ = 67)

Dilantin: midface hypoplasia, low nasal bridge, hypertelorism = big gap between eyes, growth retardation,
accentuated Cupid’s bow of upper lip, cardiovascular anomalies, etc.

Infants of Diabetic Mothers (IDM)

● Large babies (macrosmia), increased fetal O2 requirements --> fetal hyperinsulinemia
● May have hypoglycemia at birth - immediate feeding if 25-40, IV glucose if <25
● Polycythemia --> thrombosis (partial exchange transfn if hct > 65), hypoCa, hyperBili too.
○ Consider renal vein thrombosis in IDM with abdominal mass (hydronephrosis) as neonate!
● Rarely, can see caudal regression syndrome (hypoplasia of sacrum, lower extremities).
● Also a/w congenital heart dz, NTD

Neurology

Head Trauma
Subdural hematoma: more common in kids < 1; rupture of bridging veins; blood between dura & arachnoid
● More morbidity; less mortality than epidural (brain parenchyma involved
Epidural hematoma: more common in older kids; skull fx + middle meningeal aa lac, blood btwn dura & skull
● More mortality; less morbidity than subdural (under pressure). Classically with lucid interval
Basilar skull fx: periorbital (raccoon eyes) or postauricular (Battle’s sign) bruising,
● Can also see hemotympanum, CSF rhinorrhea / otorrhea.

If GCS is less than 8, then you have to intubate! (different GCS for kids)

Neural tube defects: no folic acid, valproic acid / carbamazepine exposure contribute. elevated AFP in mom
● Spina bifida: NTD with incomplete fusion of vertebral arches
● Myelomeningocoele: contains neural & meningeal tissues. Leads to hydrocephalus (get VP shunt)
● 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.

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 ● 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:
Infratentorial:
Age @ 5 yr
Tumor Manifestations Comments
onset surv

Cerebellar Ataxia, nystagmus, head tilt, intention 20% of all primary CNS
5-8 90%
Astrocytoma tremor tumors

Obstructive hydrocephalus; ataxia; 20% of all primary CNS

Medulloblastoma 3-5 50%
CSF mets tumors. Acute onset of sx

Obstructive hydrocephalus;
Ependymoma 2-6 50% 25-50% are supratentorial
rarely seeds CSF

Progressive CN dysfxn, gait disturbance,

Brainstem ( e.g. Worst prognosis of all
5-8 pyramidal tract / cerebellar signs (brisk <10%
pontine) glioma childhood CNS tumors
reflexes, spasticity, babinski, etc)

Supratentorial
Age @ 5 yr
Tumor Manifestations Comments
onset surv

Cerebral Sz, H/A, motor weakness, Poor survival if high-grade

5-10 10-50%
astrocytoma personality changes gliomas

See calcification above sella

Bitemporal hemianopsia,
Craniopharyngioma 7-12 70-90% turcica. Diabetes insipidus
endocrine abnormalities
common after surg

Poor visual acuity, exopthalmos,

Optic glioma <2 50-90% NF-1 in 70% of pts
nystagmus, optic atrophy, strabismus

Parinaud syndrome (paralysis of

Germ cell line
Germ cell tumor - upward gaze), lid retraction (Collier 75%
May secrete B-hCG or AFP
sign), precoc. puberty. May seed CSF

49
Epilepsy Syndromes
Epilepsy Onset Types Other findings EEG Treatment
Syndrome

Lennox- Childhood (1-8y) Tons of different Mental Slow spike & VPA, lamotrigine,
Gastaut kinds retardation, bad wave (1-2Hz) felbamate
prognosis

Benign Childhood (5-10y) Simple partial Nocturnal Centrotemporal Carbamazepine

rolandic (mouth, face), preponderance, spikes or no treatment
epilepsy GTC usually remits

Absence Childhood (5-10y) Absence, GTC Hypervent = 3 Hz spike & Ethosuxamide,

epilepsy & Juvenile (7-16y) trigger wave VPA

Juvenile Adolescence, young Myoclonic, Early morning 4-6 Hz polyspike VPA, lamotrigine
myoclonic adulthood absence, GTC preponderance & wave
epilepsy

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 effects of AEDs

● Carbamazepine (partial, GTC): leukopenia, thrombocytopenia, aplastic anemia
● Ethosuxamide (absence): rash, rarely aplastic anemia
● Phenobarb 9GTC or partial): nystagmus, sedation or activation, ataxia
● Phenytoin (GTC, partial): nystagmus, rash, drug-induced lupus, gingival hyperplasia, polyneuropathy
● VPA (GTC, absence, partial): hepatotoxicity, N/V, neural tube defects
● Gabapentin (partial): dizziness, somnolence, ataxia, fatigue
● Lamotrigine (GTC, partial, absence, lennox-gaustault): rash including SJS, also N/V, rash, double vision
● Topiramate (GTC, partial, absence, L-G): confusion, headache, ataxia

Status epilepticus: seizure > 30m or 2+ sz without full recovery of consciousness (in reality, treat > 5m sz)
1. ABCs, get IV access
2. Benzos (lorazepam 0.1 mg/kg or diazepam)
3. + phenytoin 20 mg/kg
4. + phenobarb 20 mg / kg
5. + anesthesia (midazolam, pentobarbital, propofol) to suppress brain electrical activity

Acute infantile hemiplegia: acute onset of a hemisyndrome with eyes looking away from paralyzed side
● Thromboembolic occlusion of middle cerebral artery or major branches (basically stroke / TIA)

Breath holding spells: can be pallid or cyanotic; sudden pain / upset --> cry --> color change --> child holding
breath in exhalation; can lose conciousness briefly and can have stiffening / transient clonic movements.

50
Cerebral palsy
● Etiology: problably most from antenatal insults (less common perinatal, pregnancy, delivery)
● ⅓ have sz, 60% have intellectual disability. Classically see scissoring of legs
● Failure to reach milestones: stepping response > 3 mo, Moro > 6 mo, asymmetrical tonic neck > 6 mo
● Can calculate motor quotient (motor age / actual age)
● Diplegia = bilateral legs; quadraplegia = all legs, hemiplegia = one side, UE > LE.

Muscular Dystrophy:
● Duchenne most common, X-linked.
● Frequent falling, difficulty climbing stairs, hop waddle, proximal mm weakness (Gower sign),
pseudohypertrophy, cardiomyopathy. Respiratory failure is #1 cause of death.
● Becker: like DMD but less severe (think older kid, e.g. 12, with new weakness, also FHx)
● Myotonic muscular dystrophy is #2: autosomal dominant.
○ Inverted V-shaped upper lip, thin cheeks, wasting of temporalis muscles, narrow head, high,
arched palate. Distal muscle weakness leads to trouble walking - also speech difficulties, GI
problems, endicrine problems, immune deficiencies, cataracts, intellectual impairment, cardiac
problems
● SERUM CK (elevated), DNA analysis of peripheral blood to diagnose

Genetic Diseases
Disease Inheritance Genes Presentation Pathology

Chromosome 4 Chorea, depression /

Huntington’s Atrophy of caudate (↓
Aut-dom (CAG repeats in behavioral changes,
Disease GABAergic neurons)
huntingtin) dementia

Degeneration of
Floppy babies, tongue
Werdnig-Hoffman Aut-rec anterior horns (LMNs
fasiculations, death ≈ 7mo
only)

Dorsal columns /
Gait / falls / diabetes
lateral CST /
Frataxin gene, GAA nystagmus / dysarthria /
Friedrich’s ataxia Aut-rec spinocerebellar /
repeats, Chr 9 DM / cardiomyopathy /
dorsal root ganglia
kyphoscoliosis
(hyporeflexic)

Brief episodes of ataxia /

Episodic Ataxia
nausea / vertigo

Progressive gait /
dysarthria in early adult
Spinocerebellar Various, mostly CAG life ± other neuro
Auto-dom
ataxia (SCA) repeats abnormalities, mild /
moderate cognitive
decline late

Metachromic Aut-rec Lysosomal storage progresive ataxia, Demyelination (↑

51
 weakness, peripheral sulfatides --> ↓ myelin
(arylsulfatase A
leukodystrophy neuropathy; macular sheath)
deficiency)
lesions (gray)

Adolescence; progressive,
Charcot-Marie- Defective
symmetric distal muscular
Tooth (Hereditary production of CMT-2 is axonal motor,
atrophy (legs / feet aà
motor & sensory myelin sheath others demyelinating
hands), hammer toes /
neuropathy) proteins
pes cavus

Neurocutaneous disorders (phakomatoses)

Port-wine stains (nevus flammeus), ipsilateral leptomeningial
Spontaneous, chr
Sturge-Weber angiomas. Glaucoma, sz, hemiparesis, mental retardation. Can
3
use pulsed dye laser therapy to fade port-wine stain.

Aut-dom with Hamartomas (CNS, skin, organs), cardiac rhabdomyomas, renal

Tuberous sclerosis variable angiomyolipomas, giant cell astrocytomas, MR in 65%, sz, ash-
penetrance leaf spots, sebaceous adenoma, shagreen patch,

NF type 1 (von Café-au-lait spots, lisch nodules (pigmented iris hamartomas),

Aut-dom, chr 17
Recklinghausen’s dz) neurofibromas (skin), gliomas / ependymomas

NF type 2 Chr 22 Meningiomas, gliomas, bilateral acoustic neuromas

Cavernous hemangiomas (skin, mucosa, organs), RCC,

Von-Hippel-Lindau dz Aut-dom, chr 3
hemangioblastoma (retina, brain stem, cerebellum)
DDx of Sturge-Weber includes PHACE syndrome - posterior fossa malformations, hemangiomas, arterial
anomalies, coarc of aorta, eye abnormalities

Post-infectious weakness
Disease Etiology Features

Post-infective (chickenpox, Perivenular inflammation, demyelination post-infection.

ADEM measles) or post-vaccine Abrupt onset, monophasic. Fever, H/A, drowsiness, sz, coma;
(rabies, smallpox) can have hemi/paraplegia, CN palsies as well

Antiganglioside Ab (GM1, others); ascending motor paralysis

Post-campylobacter or ± sensory, hours/days, ± autonomic dysfunction, often pain
GBS: AIDP
herpesvirus (CMV / EBV) LP: albuminocytologic dissociation
IVIG / PLEX equally effective, steroids don’t help

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

CIDP ?
evolving with areflexia / impaired vibration.

Anti GQ1b Ab, ataxia, areflexia, ophthalmoplegia;

Miller-Fischer GBS variant – post infectious proprioceptive loss (not cerebellar dysfxn), usually self
limited / good prog

52
Hearing loss:
● Usually dx by severe language delay (e.g. no babbling by 9 months = get audiologic evaluation)
● Normal (0-5 db threshold), mild (25-30: lose some speech sounds), moderate (30-50: most speech
indiscernible), severe, profound (>70db)

Sensorineural: congenital or acquired

● Congenital
○ #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 abnormalities
○ Down syndrome, neurofibromatosis, Jervell/Lange-Neilsen (also congenital prolonged QT),
Hunter/Hurler syndromes as well.
● Acquired:
○ Infections: CMV #1, also toxo, rubella, syphilis, GBS/strep pneumo infection
○ Drugs: aminoglycosides, loop diuretics, chemo (cisplatin), lead, arsinec, quinine
○ 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+

Oncology

Hematologic malignancies
Leukemias in general:
● Sx: lethargy, malaise, anorexia days / wks before dx; bone pain / arthralgias (leukemia in marrow
cavity), pallor (normocrhomic, normocytic anemia with low retic count), ecchymoses / petechiae
(thrombocytopenia), hepatosplenomegaly / cervical LAD at Dx.
● Get CBC with diff & blood smear, flow cytometry to type. Bone marrow bx is gold standard.

Acute leukemias: 97% of all childhood leukemias. rapidly fatal if untreated, but curable.
● Acute lymphoblastic leukemia (ALL):
○ More common (75%), increased risk with ataxia-telangiectasia, XLA, SCID, L3 ALL a/w EBV.
○ Hyperleukocytosis (WBC > 200,000) = vascular stasis (esp if > 300k) - bad! Mental status
changes, H/A, stroke, hypoxemia, etc. Can use hyperhydration, leukophoresis to tx

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 ○Treatment of ALL: induction of remission,consolidation to kill more cells (incl intrathecal
methotrexate), interim maintenence (less intense), delayed intesification (another intense
round), maintenence (ongoing, to maintain remission)
■ 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, hyperploidy
● 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 Shwachman-Diamond (exocrine
pancreatic insufficiency and neutropenia) and Diamond-Blackfan (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 overall.

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.

Lymphomas
Non-Hodgkin:
● T-cell: a/w mediastinal mass, can have SVC syndrome as a result
○ lymphoblastic (pre-B), anaplastic types
● B-cell: often involves bone, isolated LNs, skin
○ lymphoblastic (pre-B)
○ Burkitt lymphoma: rapid growth, can have tumor lysis syndrome even before chemo!
■ 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%, ⅔ also have mediastinal LAD
● B symptoms: unexplained fever, drenching night sweats, unintentional wt loss (> 10%/6mo)
● Diagnosis:
○ Get a chest radiograph to look for mediastinal mass; will guide how bx done (anesthesia? need to
protect airway if impinged upon?)
○ Biopsy next: look for Reed-sternberg cells. Fewer is better for prognosis (lymphocyte
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 effects

● Alkylating agents / cross linkers
○ Cyclophosphamide - hemorrhagic cystitis, SIADH, cardiac toxicity, infertility

54
 ○ Iphosphamide - hemorrhagic cystitis, also renal / ototoxicity, infertility
○ Cisplatinum (platinates, doesn’t alkylate, but cross-links) - ototoxicity, renal toxicity, late nausea
● Antimetabolites
○ Methotrexate (dihydrofolate reductase inhibitor) - mucositis, hepatic/renal tox, neurotoxic
○ Mercaptopurine, thioguanine (block purine synthesis) - mucositis, hepatic toxicity
○ 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, anaphylaxis

Retinoblastoma: malignant tumor of embryonic neural retina. Chr 13q14 mutation (RB1)
● 60% sporadic, rest hereditary (high but incomplete penetrance). Bilat (25%) = hereditary.
○ If parent has unilateral rb & known mutation or bilat rb, screen at birth (ophtho) & reg intervals until 4-5
y/o
● ⅔ 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 disease.
● 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 ganglia)
● 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, pheo)
● Presentation: Abd: smooth, hard, nontender abdominal mass; displace kidney forward/down. Can get
abd pain, HTN if compressing renal vasculature. Chest: respiratory distress. Neck: Horner’s 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 proliferate
● 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

55
 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 related.
● 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 invasion
● Anaplastic, clear cell, rhabdoid histology may necessitate different 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

Tumor Patient / presentation Location Dx Comments

Mostly adolescents, M>F chr 11-22 translocation.

(1.5x), very rare in AA. Pain,
Ewing
localized swelling at site of
Sarcoma
tumor + fever, wt loss,
fatigue if mets
Flat and long bones Rad: lytic with
Tx: rad/surgery +
(femur, pelvus > fibula, calcified periosteal
chemo (almost all pts
humerus, tibia). Often elevation (“onion
have microscopic mets).
midshaft skin”). Get bx
if no mets, 5yr > 66%

Clinical mets in 20%;

Mostly adolescents, M>F
(2x), most during peak
growth velocity. Pain,
Osteo- localized swelling but rarely
sarcoma systemic manifestations.
Often attributed to trauma
(gait distrubance, fx
common)
Rad: lytic with
msotly lungs; almost all
Medullary cavity / periosteal reaction
others have microscopic
periosteum, at (inflammation, radial
mets. Tx: Surgical
metaphysis of bones with sunburst as tumor
removal, resistant to
big growth velocity breaks through cortex).
radiation = neoadjuvant
(distal femur, prox tibia, Get CT chest for
+ adjuvant chemo.
prox humerus) pulmonary mets, bone
Long-term relapse-free
scan too.
survival >70%

Ophthalmology
Strabismus: misalignment of eyes. Transient strabismus OK until 4 mo age.
● 4% kids have strabismus, more common in CP, Down’s, hydrocephalus, brain tumors
● Esotropia = inwards, exo=outward, also upward/downward. Dx with light reflex, cover-uncover tests
● Amblyopia, reduced steropsis (depth perception) can result.
● Tx: realign (medical, surgical intervention), earlier is better for chances of normal acuity/alignment

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Amblyopia: reduced vision in otherwise normal eye (2-5% kids, most susceptible birth - 7yrs. Ealier = worse)
● Strabismic (33%): suppress retinal images from misaligned eye, if child younger than 4-6 yrs
● Anisometric (33%): unequal refractive erros in eye; blurred retinal image
● Rest are mixed mechanism. All can lead to permanent vision loss.
● Tx: correct refractive errors with glasses, fix cataracts, etc. Restore alignment if strabismic. Then occlude
better-seeing eye to force visual development in affected eye. Tx > 8 y/o is unlikely to be successful

Leukocoria: DDx:
● retinoblastoma (life threatening; see onc section)
● cataracts (most common cause, 1:250 newborns, congenital or acquired - infection, etc. Tx with surgical
removal; remove before 2-3 mo age to prevent irreversible amblyopia)
● retinopathy of prematurity (retinal vascular disease, O2 exposure, VLBW preemies. Tx: many regress
spontaneously; lasar ablation of retina or cryotherapy can reduce progression to retinal detachment)
● Also congenital glaucoma, oxular toxocariasis (parasitic, often acquired)

Nasolacrimal duct obstruction: causes chronic overflow tearing in absence of conjunctivitis in 25% neonates.
● Failure of distal membranous end of nasolacrimal duct to open.
● If mucopurulent discharge, tenderness of lower lib, think dacrocystitis (superimposed infection); use
warm compress, nasolacrimal massage, occasionally 1st gen cephalosporins
● Resolves spontanously by 1 y/o in 96%. Refer if sx persist. At 12-15mo, probe nasolacrimal duct.

Infantile glaucoma: classic triad of tearing, photophobia, blepharospasm. May see one eye enlarged!
● Can be isolated or a/w congenital rubella, NF-1, sterge weber, marfan, others

Opthalmia neonatorum: conjunctivitis in 1st month of life.

● Ocular discharge in neonate = evaluate (tears absent in first few weeks of life)
● Presentation: eyelid edemia, conjunctival hyperemia, ocular discharge.
● DDx of most common causes below; also HSV, S. aureus, H. flu, pseudomonas (after 1st week of life). Tx:
refer if gonococcus, HSV, P. aeurg, or if signs worsem / sx perist > 3 days. Also Tx parents / partners if STD!
● Prophylaxis: Erythromycin drops (C. trach, N. gonorrhea).

Onset Features Complications Dx Treatment

bilat, serous discharge, Exclude other

Chemical 24h Self-limited None
conjunctival hyperemia causes

Topical
bilat, prurulent sepsis, meningitis, conjunctival cx
erythromycin,
N. gonnor. 2-4d discharge, eyelid edema, arthritis, corneal (chocolate or
IV cefotaxime,
chemosis ulceration, blindness Thayer-Martin)
treat parents

unilat or bilat
Oral + topical
mucopurulent corneal scarring, conjunictival
C. trach 4-10d erythromycin*,
discharge, conjunictival pneumonia Chlamydial cx
treat parents
hyperemia
* remember that systemic erythromycin in neonatal period has been linked to hypertrophic pyloric stenosis

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Infectious Conjunctivitis (Pink Eye)
● DDx: All have diffuse injection, normal vision
○ Viral: pain mild, clear mild/copious discharge, can crust, usually no itching, normal vision.
adenovirus, ECHOvirus, coxsackievirus are common etiologies
○ Bacterial: mild/moderate pain, mild/copoius mucopurulent discharge with definite crusting, no
itching. H. flu, S. pneumo, N. gonorrhoeae can be culprits
○ Allergic: no pain, clear discharge with mild/moderate discharge, no crusting but with itching.
Seasonal pollen or other allergens can be etiology
● Often treated with abx drops / ointment x 5-7d (polymiyxin-bacitracin, TMP-polymyxin B, gentamicin,
ofloxacin); can culture of refractory. Self-limited diseases, but abx limit infectivity, decrease duration by 2
days. Some exceptions:
○ If N. gonorrhoae - need parenteral ceftriaxone.
○ If H. flu and ipsilateral otitis media, treat for otitis.
○ Do NOT give abx drops with steroids if HSV-1 is cause (more severe disease, visual impairment).
● Ddx includes corneal abrasions (red, painful, tearing; sensitive to light, use slit lamp + fluorescine to see,
treat with eye patching +- topical abx, should heal within 24h)

Styes: Chalazion vs Hordeolum

● Chalazion: sterile lipogranuloma of meibomian gland in tarsal plate. Firm but nontender. Excision
sometimes required; can be chronic / recurrent. Lid hygeine can help.
● Hordeolum: infection of meibomain gland (internal) or sebacoues gland around eyelash follicle (external).
S. aureus usually. Local, tender swelling --> rupture to outside. Tx with warm compresses; I&D or
systemic antibiotics if cellulitis develops. little value for ophthalmic abx

Periorbital (preseptal) cellulitis:

● Preseptal: no limitation of eye movements. Usually from skin breaks (S. aureus, group A strep),
hematogenous (S. pneumo, H. flu), inect bites, or sinus infection (S. pneumo, H. flu, M. cat).
● Dx: warm, tender, indurated skin without eye pain around eye. +/- fever (if hematogenous) & signs of
etiologies above. Get LP if suspicious for meningitis.
● Tx: IV abx as soon as possible. If after break in skin, PCNase-resistent PCN or 1st gen cephalosporin;
may need Vanc if concerned for MRSA. Otherwise use cefuroxime or 3rd gen cephalosporin if concerned
for meningitis. Switch to PO to complete 10 day course when symptoms go away.

Orbital cellulitis: this is an EMERGENCY

● Infection behind orbital septum. Severe pain with eye movement, proptosis, vision changes, decr. EOM
● Get CT scan for dx, look for spread of infection. May have orbital abscesses (drain)
● Organisms: S. aureus, S. pyogenes, S. pneumo, H. flu, M. cat, anaerobes in upper resp tract
● Start empiric IV abx (cefuroxime, +clinda if concern for anaerobes, or amp-sulbactam) x 3 wk course total
(can switch to PO when symptoms go away).
● Bad sequelae: brain abscesses, meningitis, cavernous sinus thrombosis (rare but serious).

Orthopedics
Developmental dysplasia of the hip: dislocation - acetabulum doesn’t develop as cup - head of femur out farther
● More common in breech deliveries, family hx, females, 1stborn children. A/w clubfoot, congenital

58
 torticollus, metatarsus adductus, infantile scoliosis
● Dx: Barlow, Ortolani. Older infants: Galeazzi sign (knees bent, hips flex, look for shortened limb).
Radiographs don’t 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. can’t dosiflex; foot more deformed; limp + ulceration +
calluses. Need early intervention before walking! (serial casting, surgical repair if failed)

Causes of limp
● Trauma is #1 at any age. Otherwise, by age (yrs)
○ 1-3: infection, inflammation, paralytic syndromes
○ 3-10: L-C-P, toxic synovitis, JIA
○ Pubertal: SCFE
● Legg-Calve-Perthes: avascular necrosis of femoral head, etiology unknown. Mostly males / younger
kids (4-8 y/o) with painless, mildly painful limp developing insidiously, often referred to knee / thigh.
Limited ROM on abduction, flexion, internal rotation.
○ Radiographs: initially normal, then epiphyseal radiolucency.
○ Treat by contain femoral head in acetabulum, usually ischemic bone is resorbed then reossification
over 2-5 yrs. Often just observed if younger; brace/cast/surg if older. Incr. arthritis later in life
● SCFE: prox femoral growth prate separates; femur head slips off & rotates into inferior/posterior position
○ Think overweight pubertal kids (esp males). 25% become bilateral. No relation to trauma.
○ Presentation: limp, pain (hip/groin or referred to knee). Limb shortening, limited internal
rotation and flexion on exam. Get radiographs in frog-leg lateral position to see displacement.
Tx: pin fixation acutely; chronic may require osteotomy

Osgood-Schlatter: pain, swelling, tenderness over tibial tuberosity.

● From repetitive stress to distal insertion of patellar tendon on proximal tibia
● Think adolescent growth spurt (10-15y)
● Pain worse with running, jumping, kneeling, squatting but better with rest.
● Tx with activity modification, stretching before, rest/ice after activity; casting for up to 6 wks if severe; low
long-term morbidity

Blount disease: bowlegs (genu varum) that progress & worsen, can be unilateral
● 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 progressive.
● 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.

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 ● Scheurman disease: inflexible kyphosis a/w wedge-shaped vertebral bodies. Brace / surgery

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 compression).

Fractures
Basic features: ligaments / tendons > bones for strength in kids, so more breaks than sprains / tears.
● Hallmark is severe point tenderness over bone
● 5-10% fx are invisible on initial radiographs (2-3 wks later)
Types of fx
● Epiphyseal fractures classified by Salter-Harris classification. S-H III/IV have highest risk growth disrup
● Bow fracture (e.g. greenstick) if bowing / bending without fracture after trauma
● Stress fractures: can be invisible on initial films; repetitive forces (e.g. athletes)
● Pathologic fx: if 2/2 OI, malignancy, lnog-term steroids, infection, endocrine disorders.

Osteogenesis imperfecta: fragile, brittle bones.

● Family of kinds, both aut-dom & aut-rec, all with abnormal type I collagen, with variable severity
● Blue sclerae and multiple fx, which can lead to short stature.
● Management: standard fx care, pneumatic bracing, avoiding even minor trauma. Some pts: pamidronate
(inhibits osteoclast resorption)

Subluxation of radial head: “nursemaid’s elbow”.

● Common, with strong jerking of child’s hand when held by parent. Child comes in holding arm close to
body, elbow flexed, forearm pronated, pain on elbow motion. Radiographs normal.
● Tx: extend elbow, supinate hand; hear click as annular ligament pops into place; kid better in minutes

Typical injuries in young athletes

Swimming Shoulder injuries (rotator cuff tendinitis and/or supraspinatus muscle injury)

Football Knee injuries (ACL, PCL, MCL) common.

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

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

Running Muscle strains in hamstrings, adductors, soleus, gastroc.

Runner’s knee: anterior knee pain because of patellofemoral stress

Ballet Delayed menarche, eating disorders are stereotypical

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

Wrestling 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!

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Skiing Skier’s thumb: abduction & hyperextension of thumb --> sprain ulnar collateral ligament
during fall is #1

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

Osteomyelitis:
● ⅔ in femur and tibia in kids; often in metaphysis (blood stasis, few phagocytes). 50% neonates with osteo
have septic joint as well.
● Incidence bimodal: neonatal M=F, older kids (9-11) M>F
● S. aureus is #1; also GBS/E. coli in neonates, Salmonella in SCD, pseudomonas if nail thru sneakers
● Hx: fever, refusal to move limb; can have localized bone pain if older.
● PE: Soft-tissue swelling, limited ROM, point-tenderness; can see sinus tracts sometimes draining pus
● Labs: WBC can be normal; 50-60% blood cx positive. Should aspirate bone before abx started to get
organism, susceptibility, etc. Rads normal, then pereostial elevation / radiolucent necrosis @ 2-3wks. MRI
is better for imaging. CRP elevated in 95% (nl within 7d of tx). ESR elevated in 90% (nl after 3-4wks).
● Tx: IV or high-dose oral abx for 4-6 wks.
○ Broad-specrum anti-staph, like cefazolin, nafcillin, oxacillin).
○ Neonates: GBS, GNR coverage
○ SCD: third-gen cephalosporin for salmonella
○ Narrow after organism recovered. Surgery if abscess / sequestrum found

Septic arthritis: more common than osteo. From bacteremia. Think infants, young kids mostly
● Painful joint, fever, irritability, refusal to bear weight. Limited ROM, tender joint, +/- swelling on exam
● DDx: osteomyelitis, inflammatory arthritis, reactive arthritis
● Labs: tap joint. WBC> 25,000 in joint fluid, often get bacteria too (but GC is harder to isolate)
Neonates GBS, E. coli, S. pneumo, S. aureus Cefotaxime

Infants > 6wks S. aureus #1

hip Ceftriaxone
Young kids also Kingella kingae, S. pneumo

S. aureus #1, also strep, gram-negs 1st/2nd gen cephalosporin or

Older kids knee
N. gonorrhea if sexually active symisynthetic PCN

Transient (“toxic”) synovitis of the hip: frequent cause of hip pain, stiffness in children.
● ?infectious, often after viral illness.
● ROM limited - present in unilateral frogleg position, have hip effusion and pain on internal / external
rotation but child is afebrile and bears weight, ESR < 40, low CRP, WBC < 12k (vs septic arthritis)

Reactive arthritis: think chlamydia, also after enteric bacteria (yersinia, salmonella, campylobacter)
● 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)

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Psych
ADHD - needs to be present in more than one setting and start before 7 yrs old, 6mo+ of sx
● Inattentive, hyperactive, and combined types. DDx vs abscence sz.
● Send questionnaires to parents, teachers.
● Use simulants (methylphenidate, dextroamphetamine); atomoxetine (NE reuptake inhibitor, less tics
associated), also buproprion, imipramine / nortriptyline / pemoline. 70% respond
● Comorbid oppositional defient disorder (most common) / conduct disorder is common; also
comorbid learning disabilities. send for full workup

Tics & Tourette Syndrome

● Tics - nonrhythmic, spasmotic, involuntary, sterotyped; any muscle group
○ Transient tic disorder: common, often in boys; often FHx - eye blinking, facial movements,
throat clearing; lasts for weeks to a year then often resolves; can be chronic though
● Tourette syndrome: life-long, motor + vocal tics for at least 1 yr without 3 months free of tics, needs to
be age < 18, causes disturbance
○ obsessive-compulsive behavior, high incidence of ADHD too
○ Treat with clonidine (alpha-2 receptor agonist which decreases NE by acting on locus ceruleus)
○ If that doesn’t work, try atypical antipsychotics

Pulmonology
Things to remember: Can’t get PFTs until 5-6 yrs. Intrathoracic = expiratory, extrathoracic = inspiratory

Upper airway obstruction

● Neonates - noisy inspiration, increased WOB, retractions. Subglottic = high pitched, monophonic.
Supraglottic = variable, fluttering stridor, varies with position of head / neck. Pronounced difficulty
during feeding in infants. Tx based on etiology. If severe, may need tracheostomy until definitive tx
○ Choanal atresia - dangerous (obligate nose breathers), better with crying, dx by trying to pass 16
french catheter into nose.
○ Mandibular hypoplasia - leads to glossoptosis (tongue displaced backwards). Also kids with big
tongues (trisomy 21, macroglossia in B-W syndrome)
○ Vocal cord paralysis: uni / bilat, can be congenital but more frequently acquired. Hoarse voice too
○ Laryngeal webs: uncommon, congenital lesions; cause respiratory distress in delivery room,
disappears with intubation
○ Laryngomalacia: big floppy arytenoids or epiglottis. #1 cause congenital stridor; resolves over
1-3 yrs of life with growth
○ Subglottic masses (hemangiomas, cysts). Subglottic stenosis (acquired, from prior intubation)
○ Compression of upper airway by anomalous vessel
● Older kids: acquired lesions become more likely.
○ Think enlarged tonsils, adenoids (esp during viral URI), foreign bodies, infections (acute
laryngotracheitis, peritonsillar / retropharyngeal abscesses, etc.
○ 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)

62
 ■ CPAP an option if other interventions fail; if untreated, severe OSA can lead to CHF /
death!

Asthma:
● Wheezing kids: consider also inflammation / failure to clear secretions (bronciholitis, GER with aspiration,
CF, TEF, primary cystic dyskenesia), intraluminal mass (foreign body, tumor, granulation tissue), dynamic
airway collapse (tracheobronchomalacia), extrinsic compression (vascular ring, mediastinal LN/mass)
● Rule of 2s:
○ symptoms 2x/wk (or less)
○ nighttime awakenings 2x/month (or less)
○ short-acting beta-agonist 2x/wk (or less)
○ fewer than 2 exacerbations needing corticosteroids in last 6 months
○ with no interference with normal activity is “intermittent” asthma, better control. (exception - no
nighttime awakenings allowed in kids, 0-1 exacerbations per year).
○ Additionally, FEV1 between exacerbations should be > 80% predicted; peak flow > 85%
● Stepwise therapy:
○ If well controlled, check up q1-6mo. If well controlled > 3 mo, consider step down
○ If not well controlled, step up & re-evaluate in 2-6 wks
○ If very poorly controlled, consider short-dose oral corticosteroids, step up 1-2 steps, re-eval 2 wks
○ All steps get SABA PRN. Then add low dose ICS --> medium dose ICS / add LABA, LTRA, or
theophylline (either order) --> high dose ICS + LABA --> add oral corticosteroids
● Higher risk of death: noncompliance, poor recogn. of sx, delay in Tx, hx intubation, AA, steroid dependence
● The pathway: acute exacerbation
○ 3x nebs: albuterol + atrovent (combi), then albuterol, then albuterol + atrovent
○ 2 mg/kg steroids x 5 days

Cystic Fibrosis: disordered exocrine gland function is hallmark, leading to abnormal viscid secretions
● From CFTR Cl channel mutation on chr 7 (surface of epithelial cells - gets sequestered inside cell).
● Aut-rec; most frequent in Caucasians, 75% from deltaF508 mutation
● Also can’t bind Pseudomonus in lungs; decreased NO production (exaggerated inflammation)
● Screen with pancreatic immunoreactive trypsinogen (IRT) test (blood spot screening) - elevated in CF
○ False negatives possible, so do more testing if newborn screen negative & high susp (mec ileus, etc).
● Findings: nasal polyps (test these kids for CF!).
○ Infections: S. aureus, H. flu early in childhood --> P. aeurg in late childhood / early adolescence,
Burkholderia cepacia is really ominous (accel. pulm. deterioration, early death)
○ GI: pancreatic insufficiency, bowel obstruction, rectal prolapse, diabetes, hepatic cirrhosis.
Decreased fat absorption (pancreatic loss) - large, bulky, foul-swelling stools. Often see failure to
thrive as initial manifestation. Meconium ileus too (no stool passage, vomiting / abd distention,
distended bowel loops, bubbly pattern in intestine with narrow colon on abd x-ray, surgical
emergency!)
○ Pulm: wheezing, air trapping, obstructive PFTs, chronic sinus disease
○ GU: obstructive azoospermia in males, reduced fertility in females.
● 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

63
 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 don’t work = bad mucociliary clearance
● Recurrent bronchial obstruction, sinusitis, chronic otitis media, recurrent resp infections
● Sx similar to CF, asthma
● Dx: abnormal ciliary beat under light microscopy or microsopic exam of ciliated cells in nose, bronchi
● Tx: simlar to pulmonary CF components, although not the same P. aeurg propensitiy.

Restrictive lung diseases: much less common in kids

● Pectus excavatum (depression of sternum) or carinatum (outward), if severe
● Neuromuscular disease (GBS, muscular dystrophy, SMA)
● Big lesions occupying intrathoracic space (e.g. diaphragmatic hernia, etc)
● ILD: rare. Sarcoid, desquamative interstitial pneumonitis, etc.

Idiopathic pulmonary hemosiderosis (IPH): post diffuse alveolar hemorrhage; idiopathic or with bleeding
disorder; see hemosidin-laden macrophages (siderophages) in bronch washings. An example of an ILD
● Consider in kids with fever, resp distress, CXR findings that look like PNA - but findings clear rapidly,
kids have lots of recurrent “PNA” and signs like clubbing that point to a chronic process.
● Also see microcytic hypochromic anemia, low serum Fe, occult blood in stool (swallowed pulmonary
secretions). Get bronchoalveolar lavage.
● Subset have hypersensitivity to cow’s milk (“Heiner syndrome”) & improve off of milk

Apnea of infancy: any cessation of breathing that lasts for 20 seconds or more, or involves color changes
(cyanosis or pallor), hypotonia, decreased responsiveness, bradycardia. treat underlying disorder (infection,
neurologic, respiratory, cardiac, GERD, abuse).
● ALTE if parents believe could have been fatal
● management: treat underlying disorder. Can put on home monitor which will sound alarm for apnea,
bradycardia, but don’t reduce SIDS likelihood (since apnea does not raise SIDS risk).

Renal

Glomerular disease
Nephritic syndromes: think red cell casts, edema, mild HTN, hematuria, etc. Can use Ca-channel blockers for HTN
Classic presentation Lab features Notes

APSGN Puffy eyed kid, tea-colored low C3, normal C4 95-98% recover well
urine, RBCs, mild HTN after Positive ASO, anti-DNAseB Abx don’t decr. risk
sore throat or impetigo Steroids don’t help

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IgA Recurrent painless IgA immune complexes in
nephropathy hematuria, usually after URI mesangium

HSP Common cause of nephritis, IgA immune complexes in

but mostly younger kids 4-5 mesangium

Lupus nephritis Can present like APSGN Consider if hematuria doesn’t

resolve or C3 still abnl in 6-12w

Benign familial Aut-dom (FHx); persistent or Bx normal or thin basement No progression to chronic
hematuria intermittent hematuria membrane. renal failure

Goodpasture Nephritis and pulmonary Anti-basement membrane Ab

syndrome hemorrhage (hemoptysis) (linear pattern)

Alport hematuria (often asx, Genetic (often X-linked)

syndrome microscopic), proteinuria, defect in collagen
renal failure, hearing loss 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).
Classic presentation Lab features Notes

Kid with periorbital Normal light

edema, then lower microscopy; podocyte #1 cause by far in kids
Minimal change
edemity edma, wt gain, foot process effacement Responds to steroids
ascites on EM

Focal (only some Primary, or 2/2 HIV or

Older kids with nephrotic
FSGS glomeruli) & segmental use of some drugs (e.g.
syndrome
(only part of glomerulus) heroin)

IC deposits in
Membranoproliferative Older kids with nephrotic subendothelial space -->
GN (MPGN) syndrome rebuild BM on top -->
tram tracks

Subepithelial “spike &

Membranous
mostly adults dome” deposits of ICs Can be a/w SLE, HBV
nephropathy
binding to GBM

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

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 ● 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 enough
○ May need vesicostomy if UTI doesn’t 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 function.

Kids with UTIs: Work up any male infant with UTI to evaluate anatomy, function (get renal U/S, VCUG)

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 (doesn’t 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 doesn’t 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.

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Fanconi Syndrome: Proximal tubular disease (type 2); can be secondary to genetic dz (cystinosis, galactosemia,
Wilson disease) or drugs (aminoglycosides, expired tetracycline, cephalothin, cidofovir, valproic acid, 6-MP,
azathioprine, cisplatin, heavy metals, etc.) - via acute tubular necrosis, alteration of renal blood flow, allergic
reacitions.
● Anorexia, polydipsia, polyuria, vomiting, unexplained fevers
● Glucosuria with normal serum blood sugars
● High urine pH with mild/moderate serum hyperchloremic metabolic acidosis, UAG normal (0 or neg)
● Mild albuminuria with normal serum protein, albumin but low serum phosphorus, calcium

Rheumatology
JIA (Juvenile idiopathic arthritis / formerly JRA)
● faint rash, joint pain, daily spiking fevers with waxing/waning body pain, joint swelling, morning
stiffness usually lasting > 30 minutes
○ CBC: thrombocytosis, leukocytosis, anemia
○ RF+: more like adult disease (50% progress to adult RA); RF-: better prognosis
● Categories:
○ Still’s 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 exams.

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 doesn’t 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 (can’t 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, nonpurulent)
○ Rash (polymorphous, primarily truncal)

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 ○ Aneurysm risk - RISK FOR CORONARY ANEURYSM DEVELOPMENT!!!
○ 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 (won’t 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 Sjogren Gottron papules Juvenile DM

Nailfold capillary SLE, DM, scleroderma,

Oral / nasal ulcers SLE, Wegener, Bechet
changes Kawasaki

Purpura HSP, small/medium vessel

Chest pain / pleuritis SLE, systemic JIA
vasculitis

Arthritis JIA, SLE Malar rash SLE, dermatomyositis

Muscle weakness Juvenile dermatomyositis Raynaud phenomenon SLE, scleroderma

Skin tightening Scleroderma

Labs in rheum conditions

Thrombocytosis Systemic RA
Sterile pyuria Kawasaki
ANA SLE, scleroderma, sjogren, JRA (not systemic)
anti-dsDNA, anti-smith, antiphospholipid ab SLE
Rheumatoid factor RF-positive polyarticular JIA

Low C3/C4 SLE

Elevated CPK juvenile dermatomyositis

Anti-Ro, Anti-La Sjogren syndrome

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Adolescence
Timing of puberty
● Males: testicular enlargement, then pubic hair, penis lengthening, then max height velocity
● Females: thelarche, pubarche, maximal height velocity, then menarche

Delayed puberty: no signs by age 13 in girls or no menacrhe 3 yrs after start of puberty, age 14 in boys
● Think gonadal failure, chromosomal abnormalities (Turner/Klinefelter), hypopituitarism, chronic
disease, malnutrition
● Constitutional delay is #1 caues (90-95%) - with delayed bone age, slow growth, fhx.

Precocious puberty: signs earlier than age 7 in girls, age 9 in boys (may be earlier for AA girls)
● Sex hormones generally appropriate for stage of puberty, but not for chronological age: estradiol in F, T in M
○ LH/FSH vary, so single sample not good enough.
○ Use GnRH stimulation test instead (GnRH, measure LH/FSH response)
■ 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 don’t respond to androgens = externally female
○ Wolffian (internal male) structures, but no internal female structures (have MIF)
○ 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

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 ○ 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
Tanner Breast development (F) Genitals (M) Pubic hair (M & F)

I prepubertal prepubertal none

II breast bud, testes, scrotum larger sparse, longer, lighter hair @

areola widens scrotum reddens, changes texture base of penis, along labia

III elevation of breast + penis enlarges (length) darker, coarser, more curled
areola testes, scrotum grow more along pubic jxn

IV areola projects above penis enlarges (thickness, glans develops) adult-type hair,
breast contour testes, scrotum grow, darker scrotum no spread to thighs

V mature stage; smooth adult adult-type hair,

contour & areola spread to thighs

Mittleschmerz - sudden onset of RLQ or LLQ pain with ovulation; can have mucouid vaginal discharge
● On ddx of appendicitis!

Dysfunctional uterine bleeding:

● Categorizations
○ Menorrhagia: excessive / prolonged bleeding with a regular menstrual cycle
○ Metrorrhagia: irregular bleeding between menstrual cycles
○ Menometrorrhagia: irregular uterine bleeding with excessive / prolonged flow
● Tx:
○ Hb > 12: Iron & follow-up
○ Hb 9-12: Treat with a few cycles of OCP and iron
○ Hb < 9: IV estrogen & may need hospitalization, transfusion

Ectopic pregnancy: abdominal pain, vaginal bleeding, amenorrhea classic, but only in 50% cases

Substance Abuse
PCP intoxication
● Phencyclidine, angel dust, horse tranq, happy leaf. piperidine like ketamine; originally anesthetic (NMDA
receptor blocker), long-acting (6h short-term effects, full effect can last several days, variable behavioral
changes, unpredictible), often with MJ

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 ● Dysarthria, nystagmus (vertical), belligerent, hyperacusis, ataxia, muscle rigidity, can cause sz / coma,
numbness, HTN / tachy
● Treatment: treat HTN, can acidify urine to increase excretion, hospitalize in a quiet dark room. Gastric
lavage / charcoal can help. treat seizures as needed
● Avoid restraints (more muscle breakdown), gastric lavage (emesis / aspiration), typical antipsychotics
(anticholinergic side effects make it worse). Benzos can delay excretion, so avoid those too.

Alcohol dependence:
● Lab tests: elevated liver transaminases (particularly gamma-glutamyl transferase, GGT) and macrocytic
anemia
Alcohol acute use:
● manage with respiratory support, gastric lavage / charcoal, thiamine / glucose as needed
Alcohol withdrawal:
● Typical stages: tremulousness / jitteriness (6-8h), psychosis / perceptual sx (8-12h), seizures (12-24h),
DTs (24-72h, up to 1 wk)
● DTs: disorientation, tremors, elevated vital signs, fluctuating consciousness post-stoppage, can be fatal!
● DDx vs thyrotoxicosis, pheochromocytoma, inappropriate use of beta-agonist inhalers /
sympathomimetics.
● Use long-acting benzos (chlordiazepoxide, diazepam). Oxazepam, lorazepam are good if liver function
may be compromised

Cocaine intoxication:
● Behavioral: euphoria, bluted feelings, hypervigilance, hypersensitivity, anxiety, poor judgment, anorexia
● Physical: dilated pupils, autonomic instability, chills/sweating, n/v, PMA/R, chest pain / arrhythmias,
confusion / sz / stupor / coma, wt loss
Cocaine withdrawal: can last 2-4 days or longer, "crash" (dysphoria, irritibility, anxiety, hypersomnia, depressive sx
incl SI).
● Intox - withdrawal during lifetime of addiction can mimic bipolar disorder in the history!

Amphetamine intoxication: causes adrenergic hyperactivity (tachy, pupils dilated, hypertensive, perspiring, chills,
nausea / vomiting, anorexia / wt loss, mm weakness, can have hallucinations, resp depression chest pain,
arrhythmias, confusion, sz, dyskinesia, dystonia, coma can result)
● Meth gives you bad dental problems (meth mouth) + paranoia, hallucination / tics / aggression
● Treat overdose with benzos / haloperidol, cooling blankets if needed, treat HTN / arrhythmias PRN
Amphetamine withdrawal: the "crash" (anxiety, tremors, lethargy, fatigue, nightmares, headache, extreme hunger)

Opioid intoxication: apathy, PMR, constricted pupils, drowsiness

● Tx: cardiorespiratory support, gastric lavage / charcoal if ingested, naloxone if ODing
Opioid withdrawal: nausea / vomiting, muscle aches, fluids from all orifices, autonomic hyperactivity, fever, dilated
pupils, depressed / anxious mood, rarely life-threatening
● Generally, longer-acting substances give less withdrawal
● Ibuprofen can help muscle aches
● Can use clonidine for autonomic hyperactivity in acute-phase + methadone (long-acting opiate)

Marijuana:
● Acute use: elation, relaxation, impaired cognition; mood instability, hallucinations. Drowsiness, slowed

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 reaction times, tachycardia, orthostatic hypotension, injected conjunctiva, dry mouth.
● Tx: can use benzos if severely agitated

Ecstasy (MDMA):
● Acute use: sense of happiness, enhanced well being; agitation, confusion, shock can result. hyperthermia,
hypertension, tachycardia, tachypnea, dilated pupils, agitation, hyponatremia possible. Give activated
charcoal, benzos for agitation / HTN, FEN management, cooling blanket if needed

Hallucinogens (e.g. LSD)

● Acute use: euphoria, increased alertness; nausea, anxiety, paranoia, hallucinations, coma. Restlessness,
labile affect, hyperthermia, tachycardia, HTN, flushing, pupil dilation, injected conjunctiva, hyperreflexia
● Tx: talk down in calm environment; benzos, cooling blanket if needed, HTN treatment

Inhalants
● Acute use: euphoria, impaired judgement; progresses to hallucinations, psychosis, sz, coma. Agitation /
stupor, sluured speech, nystamus / tearing, rhinorrhea, increased salivation too.
● Tx: cardiorespiratory support as needed.

Miscellaneous
Cold Injuries
● Frostnip: small, firm, cold, white patches of skin in exposed areas. Rewarm areas to treat. No tissue
necrosis involved.
● Chilblain: aka pernio, perniosis. Small, ulcerate, purple, edematous plaque/nodules on exposed areas
(ears, fingers) that can last 1-2 weeks & can be really pruritic. Develop 12-24h after exposure. Don’t
pop blisters, don’t warm with really hot water (asensate in that area!)
● Cold panniculitis: destruction of fat cells after exposure to cold or cold object (e.g. Popsicle panniculitis,
on cheek). Can even look vasculitic.
● Trench foot: prolonged exposure to cold/moisture . cold, numb, pale, edematous foot. Can have
autonomic disturbance for years afterwards.
● Frostbite: tissue is frozen & destroyed. Stinging --> aching --> numb areas that are hard & cold. When
rewarmed, becomes red, blotchy, painful. Careful for gangrene afterwards.
○ Prevent further exposure
○ Remove wet clothes
○ Rewarm directly by skin-skin contact (not a fire, not with friction). Give tetanus ppx!
● Hypothermia: cold weather exposure; core temp drops --> tired, uncoordinated, lethargic, apathetic,
mentally confused, irritable, bradycardic

Teeth: see mandibular before maxillary teeth and incisors first, work way back to molars. Girls before boys.

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.

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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, different ages, skull fx, vertebral fx

Most likely accidental fx: clavicular, long bone, linear skull fx

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