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 somethings happening around 10-15h of life and it looks cardiac, give prostaglandin to open PDA!
Also do hyperoxia test: if PaO2 on 100% O2 < 50, probably a mixing cardiac lesion (big 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

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

Healthy-looking kid stops feeding,

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

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

Tetralogy of
Fallot

See boot shaped heart (RVH), decr.

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

Surgery

Valvuloplasty via
cardiac cath.

1). Pulmonary stenosis

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

Pulmonary
valve stenosis

Stenosed pulmonary valve =

outflow obstruction.

Cyanosis, exercise intolerance. ULSB

systolic ejection murmur that
radiates to back; systolic click. EKG:
R-axis dev with more severe (RVH).
A/w glycogen storage dzs, Noonan
syndrome

Tricuspid
atresia

No outlet between RA, RV need foramen ovale, ASD,

Cyanosis. Decreased pulm vasculature Prostaglandin, then

on CXR.
surgical correction

VSD for mixing. Leads to RV The only cyanotic heart disease with
hypoplasia.
LVH on EKG, exam, echo (others have
bigger RV!)
Ebstein anomaly Regurgitant tricuspid
valve displaced towards
bottom of R heart (small
RV results). Obstructs
ventricular outflow (large
anterior leaflet

Cyanosis. Wide, fixed split S2,

tricuspid regurg blowing murmur @
LLSB, extreme cardiomegaly on CXR

(modified BT, then

hemiFontan, then
Fontan)
Prostaglandin, then
surgical correction

A/w lithium during pregnancy,

also a/w WPW

TAPVR: Total
anomalous
pulmonary
venous return

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

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
heart syndrome

Underdeveloped left side of Cardiomegaly, increased

heart. Need ASD/PDA: ASD pulmonary vascularity. See poor R
to get O2-rich blood from LA wave progression & RVH on EKG.
to veins, where it can go to
body via PDA

Prostaglandin,
Palliation
(Norwood, Glenn,
Fontan staged repair)
/ transplant

Pulmonary
atresia with
intact ventric.
septum (PA-IVS)

Pulmonary valve small or

shut off, with no VSD = no
mixing!

Cyanosis within hours, worse with

closure of PDA
Decreased pulmonary vascularity

Prostaglandin
Surgery

Truncus
Arteriosis

Single arterial vessel from

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

A/W DiGeorge. Nonspecific murmur,

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

Surgery (close VSD,

separate pulmonary
arteries, conduit
from RV to
pulmonary arteries

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:

More likely innocent

More likely congenital heart disease

Murmur intensity grade 2 or less, heard at left sternal

border
Normal S2
No audible clicks
Normal pulses
No other abnormalities

Murmur intensity grade 3 or higher

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

Peripheral Pulmonary Stenosis (= pulmonary branch stenosis).

Classic murmur description: grade 1-2/6 high pitched /blowing mid-systolic ejection murmur, best
heard @ LUSB, radiating to axilla and through to back.
Epidemiology: responsible for majority of innocent murmurs in term infants (especially after 24h, when
most PDA have closed, and PDA is no longer explanation).
Physiology: The murmur may be due to the relative hypoplasia at birth of the branch pulmonary arteries
compared to the main pulmonary artery (which is large because it feeds the PDA and systemic circulation
in utero) and their sharp angle of origin, which causes turbulence and the murmur. Disappears by 2-3
months of age as branches 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).
Stills Murmur (= vibratory murmur):
Classic murmur description: low pitched, vibratory, musical (strummed bass fiddle), grade 1-2/6
systolic ejection murmur; are usually best heard between the LLSB and apex.
They typically decrease in intensity or resolve with a Valsalva maneuver, which can be induced in
infants by gentle pressure on the abdomen. Still's murmurs tend to vary with heart rate, becoming more
evident as the heart rate slows.
Epidemiology: can present in infancy; also often between 3-6 years old.
Physiology: Somewhat controversial; some thing its from vibration of MV or chordae; others think its just
from high-turbulence ejection from LV.
Venous Hum: benign; continuous / soft / humming murmur heard @ neck, right upper 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, RL sided systolic pressures;
mostly insignificant. L to R shunt after pulmonary resistance falls, ductus arteriosis closes. Often present

as murmur at 4-10 days of life (PVR needs to fall enough to create gradient)
Severity depends on size. Small = small L to R shunt, no change in R sided pressures. Moderate =
resistance to pressure, not to flow (no R side pressure increase, but more flow = can overload L atrium, L
ventricle by increasing return). Large essentially creates a single pumping chamber with two outlets; again
can overload by increasing return into L heart; can PVR as well --> eisenmenger syndrome when PVR >
SVR (R-->L)
What to do?
Workup: EKG (look for LVH, L atrial enlargement) +/- CXR (can show increased vascular
enlargement, chamber enlargement) both only with findings in moderate/large VSD.
Moderate to large VSDs p/w heart failure by 3-4 wks age. Refer to cardiology. 50% can be
managed medically (diuretics, ACEi, digoxin), 50% will need surgery.
Small VSDs usually remain asymptomatic. 75% will close within first two weeks of life. Schedule
appt at 3-4 wks (when they would declare themselves) & educate about signs. If still
asymptomatic at 3-4 wk checkup, peds cards followup at 8-10 weeks, then at 12 months if still
growing well.

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

No murmur from flow (atrial flow doesnt have high enough gradient).
Can have pulmonic systolic ejection murmur from increased RV volume.
No good evidence to close a small ASD / PFO despite theoretical risk paradoxical embolism. Close large
hemodynamically unstable ones. Majority of small (<6mm) isolated secundum defects close by 2 yrs.
PDA: continuous, machine-like murmur, 3/6 or less, best heard in L infraclavicular region.
Continuous because aortic pressure is higher than pulmonary pressure throughout diastole and systole;
max intensity around S2. No change with position. Moderate / large can be symptomatic (exercise
intolerance); even lead to RL shunt & eisenmengers 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 Turners 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.

Endocarditis: Fever & new murmur, may have nonspecific chest pain. strokes, hematuria are the more
common embolic phenomena in kids (Roth spots, splinter hemorrhages, petechiae, Osler nodes, Janeway lesions
less common in peds)
Most commonly strep viridans (alpha-hemolytic strep) & staph aureus.
If a complication of cardiac surgery, also consider fungi, staph epi.
GNRs more likely if neonate, immunocompromised, IVDU
Abx ppx before dental procedures if: prostetic valve, previous endocarditis, CHD thats unrepaired /
have palliative shunt / conduit / prosthetic material, or heart transplant pts with cardiac valvular
disease only!
CRP, ESR, WBC elevated. Get an echo to look at valves. Give 6 weeks IV abx directed therapy.
Myocarditis: mostly coxsackie B, alsocCoxsackie A, adenovirus, echovirus.
Fever, dyspnea, fatigue, chest pain (from secondary pericarditis). looks like CHF (cardiomegaly, edema,
pulmonary edema / dyspnea, pallor, tachypnea / tachycardia)
EKG: low voltage, ST depression, T-wave inversion.
Echo: dilated ventricles, poorly functioning (depressed CO)
PCR for viruses, may need biopsy.
Dilated cardiomyopathy: in kids, from recent myocarditis (idiopathic), neuromuscular dz (DMD), or drug
toxicity (e.g. anthracyclines), or can be familial
Signs / sx : CHF, pulmonary edema.
Treat like CHF: diuretics, fluid restriction, vasodilators & inotropes
Hypertrophic cardiomyopathy: Aut dom with incomplete penetrance. can present as sudden death in young
athlete stereotypically.
thickened ventricular septum --> LV outflow tract obstruction. Leads to systolic ejection murmur @
LLSB / apex with soft holosystolic mitral regurg murmur, may have LV heave / thrill. Murmur gets softer
with squatting, laying down & louder with strain / Valsalva, standing up (more blood in LV means less
obstruction) - the opposite of aortic stenosis
EKG: see LVH, left-axis dev, may see signs of strain / ischemia. Echo is diagnostic.
Tx: Ca-channel blockers, beta-blockers. Avoid competitive sports (4-6% mortality per year).

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

Can be junctional escape (normal QRS interval), or ventricular escape (slower, wide QRS).
A/w open heart surgery, congenital heart malformations, Lyme disease, cardiomyopathy.
Dont need to treat 1st degree or Mobitz 1. For others, may need prophylactic pacemaker / defib.

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

Congenital long QT: think channelopathies. can lead to TdP (give Mg to treat!)
Jervell-Lange-Nielsen: long QT + sensorineural hearing loss
Romano-Ward: no sensorneural hearing loss (strictly cardiac; worse)
Hypertension in kids: more likely secondary than kids, although primary essential is increasing. check for
pheo, renal artery stenosis, neuroblastoma, etc.
Need 3x elevation > 95% adjusted for age, sex, height.
make sure cuff covers 75% of upper limb, right cuff side, take multiple extremities if indicated
Pharm therapy
younger kids: diuretics, beta blockers, ca channel blockers
older kids: can use ARB / ACEi in adolescents, adults)
hypertensive crisis: sublingual nifedipine, IV nicardipine, IV nitroprusside, labetalol. Can use
hydralazine in neonates. Monitor closely & avoid sudden drops (cerebral perfusion autoregulated
to higher pressures; can stroke out).

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

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 KasabachMerritt 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 Epsteins 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)

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

1 mo

Start to lift head from

exam table

Follow eyes to
midline only, hands
clenched

Alerts / startles to
sound; starts
vocalizing a bit

Regards parents
faces
Smiles
spontaneously
Responds to bell

2 mo

Raises chest, lifts head

off table if prone

Follows object 180

degrees; holds
rattle briefly

Coos, reciprocal
vocalization

Smiles socially,
laughs, squeals,
recognizes parent

Other

Sleep through
night (2-3 mo)

Follows toy from

side to side &
vertically

3 mo

4 mo

Rolling over
Head control with no
lag; lifts onto elbows

Reaches with both

hands together, bats
at objects, grabs &
retains

Orients to voice,
laughs, squeals

Initiates social
interaction

6 mo

Sitting up; tripoding

(needs support)
Reach for objects
Roll over well

Reaches with one

hand & can
btransfer hand-hand

Babbles

Recognizes objects,
persons as
unfamiliar

9 mo

Sit without support,

crawls, pulls to stand

Uses pincer grasp &

finger feeds

Babbling still, no
understood,
nonspecific mama,
dada,

Gesture games (pat

a cake), own name,
object permanence,
stranger anxiety

12 mo

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

Pincer grasp &

release (cheerios);
two cube tower

Specific mama, dada +

1-4 other words

Imitates, comes
when called,
cooperates with
dressing

15 mo

Walks well
independently

Two cube tower,

throws ball
underhand

4-6 words + jagon,

responds to 1 step
command

Uses cup, indicates

wants / needs

18 mo

Runs, walks up stairs

with help, stoops /
recovers

Three block tower,

uses spoon,
scribbles

10-25 words, points to

body parts,
communicates needs /
wants

Plays near (not

with) other kids

2 yr

Stairs unassisted, can

kick / throw ball
overhand, jumps with
two feet off floor

4-6 block tower,

fork / spoon, copies
straight line

50 words total
2 word sentences
50% speech
intelligible to stranger

Removes simple
clothes, parallel play

Copies circle

250+ words
3-8 word sentences
75% speech
intelligible

Knows age, gender;

group play, shares

4 yr

Stand on each leg for 2

seconds

Copy square /
cross, catches ball

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

Dresses self, puts on

shoes, wash / dry
hands, imaginative
play

5 yr

Stand on each leg for 5

seconds / skips with
alternating feet

Draws person with 6

body parts

Asks what words

mean

names 4 colors,
plays cooperative
games,
understands rules

6 yr

Rides bike

Writes name

Written letters,
numbers

Knows right vs left,

knows all colors

3 yr

Tricycle, broad jumps

Introduce
juices in cup,
not bottle

Potty training
(or when child
shows
interest)

Language is #1 predictor of future intellectual potential.

Constitutional growth delay: FHx late bloomers, growth rate is normal but running along low %ile,
bone age < chron age (can catch up). T injections can jump start puberty
Familial short stature: short child of short parents. growth rate is normal but running along low %ile,
bone age = chron age (no catch-up potential)
GH deficiency: 1/4k children, slow growth, fall 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. in DKA, others with polys, other sx. Vs adults (screening)
MODY: monogenetic (autosomal dominant) family of disorders
Think young adult, late teen without obesity but w/ T2DM-ish presentation (but no insulin resistance)
Involve transcription factors in beta-cell development, glucokinase, etc.
T2DM: think of risk factors (obesity, FHx, > 9-10 years old). Can present in DKA in kids
Insulin is an option, but often start with oral agents (all of which drop A1c by 1-2%)
Metformin is usually whats used first
T1DM: patients are younger at onset
Anti-islet cell, anti-GAD, anti-insulin, anti-IAZ antibodies
T-cell mediated process; ab are just marker of cell destruction
Check for insulin production in 1-2 years to distinguish (if still making insulin, probably T2DM)
Honeymoon phase: still making insulin. high blood glc is toxic to beta cells. When you start insulin,
decreased glucose increases beta cell function; can stop insulin for a while.
DKA vs HHS
DKA: ketoacidosis with elevated gap, ketones in urine
HHS: lactic acidosis with elevated gap, few ketones in urine

10

Insulin regimens: think basal/bolus

TDD: 0.8-1.0 U/kg/day; if still making insulin 0.5-0.6 u/kg/day
Basal: usually lantis, qd. 50% TDD
Should keep you steady overnight - check trajectory of glucose during the night.
Bolus: novolog, humalog, epidra. 50% TDD
I:C ratio = 450/TDD (x units insulin per g of carb)

Should keep you the same before / after meal - check before/after at a time when no
correction dose was given to assess
Correction dose = 1800 / TDD (give 1 unit insulin per x mg/dL glc over target)

Should bring you to your target if the I:C ratio is correct - once you have the I:C ratio
right, then see if youre hitting the mark with correction 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 dont need mineralocorticoids if just ACTH deficient.
Cushings syndrome
Cushings 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 wont
suppress cortisol in morning). high dose dexamethasone suppression: cant suppress exogenous
ACTH (e.g. SCLC); much less common in kids though.
Tx: remove adrenal tumors if present

Congenital hypothyroidism:see constipation, prolonged jaundice, sluggishness, poor feeding, apnea, choking,
macroglossia, excessive sleepiness.
Avoid delays: initiate oral levothyroxine.
low FT4, high TSH. 90% in US have thyroid dysgenesis. Screened as neonates.
Pseudohypoparathyroidism (Albright hereditary osteodystrophy) - PTH-resistant at receptor level
Chemical findings of hypoparathyroidism (low Ca, high phos) but high PTH
Short stature with delayed bone age, MR, increased bone density esp in skull, brachydactyly of 4th and
5th digits, obesity with round faces, short neck, subcapsular cataracts, cutaneous and subQ
calcifications, perivascular calcifications of the basal ganglia.(theyre PTH-resistant at receptor level)

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

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

13

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

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)

n/a

neural tube defects like spina bifida associated with increase levels of
acetylcholinesterase in aminonic fluid, or omphalocele, or gastroschisis, or
multiple gestation

high

n/a

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

Tay-Sachs

B-hexosaminidase A
(a GM2 gangliosidosis)

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

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

Sandhoff

B-hexosaminidase A&B
(a GM2 gangliosidosis)

Niemann
Pick

Sphingomyelinase

Normal-appearing at birth, then hepatosplenomegaly, LAD,

psychomotor retardation in first 6 mo, then regress more

Gaucher

B-glucosidase

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

psychomotor regression before death. Classically can see flaskshaped bones, eg. femur, on x-ray

Krabbe

galactocerebrosidase

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

& death in first 3 years of life

Fabry

B-galactosidase

Older childhood: angiokeratomas in bathing trunk area; severe

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

Hurler

a-iduronidase

A mucopolysaccharidosis. coarse facies, corneal clouding, kyphosis,

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

Hunter

iduronate-2-sulfatase

A mucopolysaccharidosis. Like Hurlers but X-linked & no corneal

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

Most commonly deficiency in

galactose-1-P uridyl transferase.

Galactosemia
(a disorder of
carbohydrate
metabolism)

Presents in first weeks of life (formula / breast

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

PKU (a disorder
of amino acid
metabolism)

Sx develop in childhood (unlike other AA disorders)

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

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

no sx in infancy but look like Marfans.

Vascular thromboses --> childhood stroke, MI

Cystathione synthetase deficiency

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

Homocystinuria
(d/o of amino
acid metabolism)

OTC Deficiency
(AA / urea cycle
disorder)

Presents 24-48h after proteins introduced in feeds

- lethargy, coma/seizures, high ammonia.
Can measure level of orotic acid (byproduct of
carbamoylphosphate metabolism) in urine to help dx

Higher risk for e. coli sepsis.

Tx: remove galactose from diet.

X-linked OTC deficiency. Urea

cycle problem (ornithine +
carbamylphosphate --> citrulline in
mito). Cant make urea = ammonia
builds up! Tx: very low protein
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

4p

FGFR3

80% new mutations;

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

Hereditary spherocytosis

8p, 14q

ANK1

Osmotic fragility test; some aut-rec variants too,

spherocytes & anemia

Marfan syndrome

15q

FBN1

Aortic root dilatation, tall stature, hyperextensible

long tapering fingers, etc.

Neurofibromatosis

2p, 17q,
22q

NF1/NF2

50% new mutations;

caf au lait spots

Protein C deficiency

2q

Multiple genes

Hypercoagulable state

Achondroplasia

17

Tuberous sclerosis

9q, 12q,
16p

TSC1, TSC2,
TSC3, TSC4

Ash-leaf spots; seizures

von Willebrand disease

12p

Multiple genes

Abnormal platelet fxn & reduced factor VIII,

ristocetin cofactor assay

Autosomal recessive
Chr

Gene

Comments

Congenital adrenal
hyperplasia

6p

CYP21A2,
CYP11A1,
CYP17, ACTHR

Multiple types - salt-wasting, virilization, etc.

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
kidney

6p (or 16p =
PKD1, TSC2)

PKD3

Renal and hepatic cysts, hypertension

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

X-linked recessive
Comments
Bruton agammaglobulinemia

Absence of immunoglobulins; recurrent infections

Chronic granulomatous disease

Defective killing by phagocytes; recurrent infections

Color blindness
Duchenne muscular dystrophy

Proximal muscle weakness; Gower sign

Glucose-6-phosphate dehydrogenase

Oxidant-induced hemolytic anemia deficiency, incr. in AA

Hemophilias A and B

Factor VIII / IX deficiency

Lesch-Nyhan syndrome

Purine metabolism disorder; self-mutilation

Ornithine transcarbamylase deficiency

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
Dont prop bottle! get caries!
Colic: recurrent irritability, several hours long, late afternoon/ evening, draws knees to abdomen & cries
inconsolably, but then stops spontaneously
Formula/milk/table food & nutrient deficiencies:
Goats milk lacks folate, B12, iron. If unpasteurized, brucellosis can be a problem
Breast milk lacks vitamin D. Can exacerbate jaundice (higher unconjugated bilirubinemia; 12-24h hiatus
to fix), and associated with low vitK levels (but given at birth). Breast-feeding vegan moms are given B12
(may be deficient; child could develop methylmalonic acidemia); so are vegan toddlers.
Whole milk is low in iron; table foods dont have iron either - so if a kid is switched to whole milk, table
foods at too young an age, can develop iron deficiency anemia
Breast feeding
Contraindications: active pulm TB, HIV, also malaria, typhoid fever, septicemia, antineoplastic agents
OK: mastitis (frequent feedings can help by preventing engorgement!), mild viral illness, cracked /
bleeding nipples (despite discomfort)
OK for breast-feeding mom

Contraindicated for breast-feeding mom

Most antibiotics except for tetracycline

Sedatives, narcotics (but monitor for sedation)

Lithium, cyclosporin, antineoplastic agents, illicit drugs,

ergotamines, bromocriptine (suppresses lactation),
tetracycline

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

hypoglycemia, sz, lethargy, irritibility, poor feeding & FTT, aminoaciduria, liver failure, MR, incr. risk E. coli sepsis

19

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

Toxicities:
Toxicity

Sx / Dx
Look for hx of exposure
Sx: anorexia, hyperirritability, altered speech pattern developmental regression, abdominal
complaints. Can progress to encephalopathy (vomiting, ataxia, altered MS, coma, sz).

Lead

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

Organophosphate

Education, environmental eval, etc.

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

(cholinesterase inhibitors) - insect sprays, etc

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

Orellanine

Toxin found in Cortinarius spp of mushrooms

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

Mercury elemental

No sx if just a small bit (thermometer)

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

Methyl
mercury

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

Inorganic
mercury

(felt, mad hatter)

Gingivostomatitis, tremor, neuropsych disturbances

Arsenic

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

TCAs

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

Acetaminophen

Nausea, vomiting, diaphoresis over 24-48h

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

20

Anticholinergics

atropine, 1st generation antihistamines, etc.

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

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
glycol

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

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

Vitamin A

Night blindness, xeropthalmia (dry eyes),

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

Increased ICP, anorexia, carotenemia,

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

Vitamin D

Rickets (elevated serum phosphatase levels

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

Hypercalcemia, azotemia, poor

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

Vitamin E

Hemolytic anemia in preemies

Unknown

Scurvy, poor wound healing

Can predispose to kidney stones

(calcium oxalate). Also diarrhea,
cramps

Vitamin C
(ascorbic acid)

21

Thiamine (B1)

Beriberi (neuritis, edema, cardiac failure),

hoarseness, anorexia, restlessness, aphonia

Unknown

Riboflavin (B2)

Photophobia, cheilosis, glossitis, corneal

vascularization, poor growth

Unknown

Niacin

Pellagra (dementia, dermatitis, diarrhea)

Nicotinic acid = flushing, pruritis

Pyridoxine (B6)

Infants: irritability, convulsions, anemia.

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

Sensory neuropathy,
also fever & pain

Folate

Megaloblastic anemia, glossitis, pharyngeal

ulcers, impaired cellular immunity

Usually none

B12

Pernicious anemia, neuro deterioration,

methylmalonic acidemia

Unknown

Pantothenic acid

Rarely depression, hypotension, muscle

weakness, abdominal pain

Unknown

Biotin

Dermatitis, seborrhea, anorexia, mm pain,

pallor, alopecia

Unknown

Vitamin K

Hemorrhagic manifestations

Water-soluble forms can cause

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
Vitamin-D resistant
rickets

NL

Phos

Low

PTH

Other

NL

Genetic problem in tubular reabsorption of phosphate =

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

HIGH

AKA Albright hereditary osteodystrophy, like

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

Pseudohypoparathyroidism

Low

High

Osteogenesis
Imperfecta

NL

NL

blue sclera, easily broken bones - abnormality in production

& composition of bone matrix with normal ca/phos

Hypoparathyrodism

Low

High

LOW

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

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

Medullary thryoid Ca

NL

NL

NL

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

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, meckels
diverticulum, etc) around ileocecal valve
get air contrast enema for dx / tx
Malrotation/volvulus: think about in neonates with bilious emesis 2/2 obstruction.
If prolonged, can have necrotic bowel - melena/hematochezia, peritonitis, acidosis, sepsis
Malrotation: incomplete intestinal rotation in first trimester
Ligament of treitz - usually fixes duodenojejunal junction to L spine; here, ligament on R side, small
bit of mesentary can be axis for gut to turn around
Volvulus: mesentary twists around small intestine --> decreased perfusion, ischemia, necrosis
Classic findings: corkscrew pattern of duodenum (barium going through twisted portion, looks
like corkscrew), or birds beak of 2nd/3rd duodenal portions. Get upper GI series to evaluate.
Requires emergent surgical intervention after fluid status evaluated & fixed if neded.

Also place NG tube to decompress; get cx and initiate IV abx (sepsis workup)

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.

23

Appendicitis: classically abdominal pain followed by nausea / vomiting; periumbilical to RLQ migration
Bloody emesis: think about M-W tears, NSAIDs, liver dz; also think juice, beets, red jello, liquid meds
Black stool: think about diarrhea, constipation / tears, etc; also think Fe ingestion, bismuth, blackberries
Gastric lavage can help determine if upper GI & brisk (prox to ligament of Treitz) or lower GI in bloody stools.

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
hernia

Inguinal mass, lower abd / groin pain, emesis

Intussuception

Colicky abdominal pain, currant jelly stools

Malrotation with
volvulus

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

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 whos choking;
see coiled tube on film. At risk for aspiration (suction constantly while awaiting surgery)
H-type TEF can present later (several months of age with recurrent aspiration PNA)
Can also see with modified barium swallow with fluoro
Eosinophilic esophagitis: intermittent vomiting, dysphagia, epigastric pain; food getting stuck, no help from
acid blockade (vs GERD).

24

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

Peptic ulcer disease: kid with FHx PUD or PUD sx, nocturnal abd pain, GI bleeding (pain #1 sx)
Get upper GI endoscopy
Test for H. pylori (e.g. urea breath test), treat with acid blockade / abx triple therapy
Hirschprung: suspect in children with intractable chronic constipation without fecal soiling
Neonatal hx delayed passage of meconium - can have distention, N/V
Also at risk of developing enterocolitis.
Bx: increased acetylcholinesterase, absence of ganglia cells.
Also have failure of internal sphincter to relax with balloon distention of the rectum on anal
manometry. Can see transition zone on contrast enema (dilated proximal bowel; abnormally
narrow distal segment which is aganglionic).
Tx: surgery (colostomy, pull-through)
Vs functional constipation where you more often see overflow diarrhea
Meckel diverticulum: painless rectal bleeding in first 2 years of life
remnant of the vitilline duct (connects yolk sac / intestine; here stays as diverticulum connected to ileum)
1.5% of population has it, but rarely causes symptoms
If symptomatic, usually has acid-secreting gastric mucosa in lining; can lead to ulcerations, bleeding,
diverticulitis, rarely perforation or can undergo eversion / intussuception
Dx with Tec-99 scan (labels gastric mucosa), fix with surgical excision.
Overweight Syndromes:
Prader-Willi: hypotonia, hypogonadism, hyperphagia after newborn period, MR, obesity
deletion in Paternal chromosome 15. Little in utero movement.
hypotonic as neonates and can initially have FTT / feeding problems
Laurence-Moon-Biedel (Bardet-Biedel): aut-rec trait, obesity, MR, hypogonadism, polydactyly,
retinitis pigmentosa with night blindness
Frohlich syndrome: childhood obesity associated with hypothalamic tumor

GU/Urinary
Labial adhesions: benign condition, fused labia majora, common in preadolescent (low estrogen) girls
Can cause urine pooling - increased UTI frequency
Will resolve with puberty / estrogen, but can also apply estrogen cream x 1 week to help resolve.
Non-specific vulvovaginitis: brown, green discharge, malodorous, burning with urination = urine on irritated
skin
Check for bubble baths, tight fitting clothes, perfumed lotions used in vaginal area, improper toilet
habits (wiping toward vagina)
Foreskins & stuff
adhesions between glans / prepuce lyse within first 3 years of life in 90%, glans exposed
Can see cellular debris (white) under foreskin, not abnormal, no tx needed
Phismosis = inability to retract foreskin. Physiologic in first years of life. After age 3, pathologic

25

Paraphismosis = painful, foreskin gets retracted, trapped behind glans --> edema, venous congestion -->
cant get it back into place!

Hypospadius: Dont circumcise! They might need that tissue for repair.
Cryptorchidism: increased risk of malignancy. A/W inguinal hernias too
Spontaneous descent unlikely after 3 mo of age (operate btwn 6-12mo). Bring it down & fix it in place
(orchiplexy) for easier exams, also reduces risk of torsion (high if floating around in abdomen!). but
doesnt decrease risk of malignancy.
Testicular torsion: Causes majority of acute scrotal pain / swelling in boys > 12 years. Testicle is elevated!
Usually unilateral; can wake child from sleep / cause N/V.
Bell-clapper deformity: mobile testis (posterior attachment to tunica vaginalis missing.
Get surgical consult right away! Dont mess around with delay for doppler (need to get in there & fix it!) get doppler later while waiting for surgical consult to come through. Try to manually detorse (open
book) in ED also while waiting.
Blue dot sign on upper aspect of scrotum with normal cremasteric reflex suggests torsion of appendix
testes (but should use U/S with doppler to r/o testicular torsion).
Hydrocoele: Fluid filled sac in scrotal cavity. Remannt of processus vaginalis. May be communicating with
periotoneal cavity - in which case you need to fix; o/w involute on their own.
Varicocele: common, seen after 10 years of age, bag of worms above non-tender testis
from dilated vv of pampiniform venous plexus (usually on left side) from incompetent valve of
spermatic vein. Can cause reduced sperm counts; may need surgery if infertility problems
diagnosis usually doesnt need Doppler, can feel bag of worms and then reassure / educate unless probs.
Epididymitis: see redness, warmth, scrotal swelling but preserved cremasteric reflex. Pain usually posterior
(over epididymis). Vs torsion, here the testicle is not elevated

Hematology
Anemia
Physiologic anemia: nadir at 6 wks of age in preemie, 2-3 mo in term infant
Microcytic anemia with decreased RBC production: impaired heme or globin production!
thalassemias, iron deficiency, some anemia of chronic disease (all hypochromic too). Occasionally lead
poisoning can do it too
Iron deficiency anemia: low iron, high TIBC, low ferritin
If iron deficient - give oral iron (preferred form)
Anemia of chronic disease / inflammation: low iron, low TIBC, high ferritin
Thalassemias:
Alpha-thal: can be cis or trans (alpha deletions on one - cis - or both - trans - genes). Think SE
Asia, mediterranean, etc.

If homozygous (all four), then Hb Bart (4 gammas, hydrops fetalis) - more common

26

in SE asia because of more cis mutations.

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

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

if 1 mutation, silent carrier

Beta-thal: deletions of beta gene.

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

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

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

anemia; elevation of HbA2 level).

Normocytic anemia with decreased red cell production: bone marrow not making RBC
Transient erythroblastopenia of childhood: acquired pure red cell aplasia, usually preceded by viral
infection, normocytic anemia. 85% after 1 year of age (vs diamond blackfan or physiologic nadir).
Gradual onset of pallor over weeks. Normal peripheral smear except for reticulocytopenia.
Hb is usually at nadir at dx time. Only transfuse if CHF developing
Also on ddx: Parvovirus B19-induced aplastic anemia, drug tox from myelosuppressive agents, or
acute blood loss. anemia of chronic disease can also be normocytic.
Normocytic anemia with increased red cell production: most often hemolytic
Extracorpuscular: extrinsic to red cell
Isoimmune: Ab from one individual destroying RBC of another. ABO/minor Ag incompatibility
Autoimmune: idiopathic, postinfectious (Mycoplasma pneumoniae, EBV), drug-induced (PCN,
quinidine, alpha-methyldopa), or chronic autoimmune dz (SLE) or malinancy (NHL)
The antibodies for either of the above can be...

Warm-reacting IgG: warm weather is Great; fix c but dont activate the whole
way, so removed extravascularly in RES. Id with Direct Coombs

Cold-reacting IgM: MMM - Cold ice cream; intravascular hemolysis since can fix
C the whole way. Especially with mycoplasma, EBV, transfusion rxns
Non-immune: microangiopathic (DIC, TTP / HUS, malignant HTN, etc) or from artificial valves,
AVMs, hypersplenism, toxins (snake venom, copper, arsenic), malaria, burns.

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.

27

Adolescence: avascular necrosis of femoral head.

Vaso-occlusive crises too; can decrease with hydroxyurea therapy. Acute chest
syndrome, strokes are other serious sequelae
G6PD: X-linked recessive. Mutation in hexose monophosphate shunt pathway; deplete NADPH
and cant regenerate reduced glutathione / protect RBC from oxidative stress. AA / Mediterraneans.

Oxidative stress (sulfonamides, nitrofurantoin, primaquine, dimercaprol) -->

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

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

Dx: deficient NADPH formation on G6PD assay, but wait til acute hemolysis is
done (most of deficient cells have been destroyed --> can give false-normal result!)

Tx: avoid drugs that induce hemolysis, transfuse, hydrate during 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 (goats milk, evaporated milk, heat-sterilized milk), impaired
absorption (jejuanal processes - IBD, celiac), increased demand (hypethyroid, pregnancy, malignancy),
drugs (phenytoin, phenobarb)
Glossitis, pallor, malaise, but no neuro deficits. Low RBC folate, normal B12. Same changes as B12
on peripheral smear.
Treat with folate 1mg PO x 1-2 mo with rapid clinical response - note that folate will correct the
anemia of B12 deficiency, but wont fix neuro problems!
Megaloblastic macrocytic anemias
Diamond-Blackfan Syndrome: congenital pure red blood cell aplasia, aut rec or aut 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

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Defect in DNA repair --> too many breaks / recombinations. Increased risk of leukemias
Macrocytic anemia. Can dx with increased chromosomal breakage with exposure to
diepoxybutane (DEB) - damages DNA.
Tx: need RBC transfusion, abx to treat anemia / infections, corticosteroids. BMT is best if possible,
but dont really blast with chemo / radiation doses (cant repair!)

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 moms blood to diagnose
Physiologic anemia of infancy: erythropoesis ceases after birth; Hb values decline, nadir at 6-8 weeks
Iron deficiency: consider in term infant between 9-24 months (iron stores from circulating hemoglobin
exhausted; shows up now if no good iron source provided).
Sickle cell anemia: usually 4-6 months (when fetal Hb pretty much all replaced by adult / sickle Hb)

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: Moms 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

29

thumbs; can have TOF/ASD; 40% die from bleeding from low platelets in neonatal period.

Coagulation cascade defects

Hemophilias: indistinguishable clinically. Severity depends on degree of factor deficiency. Mild (5-49% normal
factor) = need significant trauma for bleeding; moderate (1-5%) require moderate trauma; severe (<1%) have
spontaneous bleeding. hemarthroses are sterotypical. Give factor concentrates, but can develop inhibitors (IgG
against transfused factors, makes treatment difficult). . Both x-linked rec.
Hemophilia A: Factor VIII deficiency, can use DDAVP (releases factor VIII from endothelial cells)
Hemophilia B: Factor IX deficiency, DDAVP has no 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 cant be
virally attenuated, so give HBV vax first)
Vitamin K deficiency: II, VII, IX, X and proteins C/S need vitamin K.
Cystic fibrosis or abx-induced suppression of intestinal bacteria (which produce vitamin K)
Hemorrhagic disease of the newborn can happen if no IM vitamin K given at birth
Coagulopathies: Factor V Leiden, prothrombin 20210A, protein C/S deficiencies increase thrombosis risk

Jaundice & bilirubin

Neonatal jaundice: for full-term infants, peaks at 5-6 mg/dL Tbili between 2nd and 4th days of life
If in 1st 24h, work up: erythroblastosis fetalis, hemorrhage, sepsis, CMV, rubella, congenital toxo
Can cause kernicterus if unconj bili too high
sepsis-like sx, apsphyxia, hypoglycemia, intercranial hemorrhage
Deposits in basal ganglia; increased in immature / sick infants, also with SMX (displace from alb),
acidosis (reduces bilirubin binding), sepsis (blood-brain barrier more permeable),
hypoalbuminemia (less albumin to bind)
Phototherapy converts unconj bili into extractable form.
If no hemolysis, phototherapy for Tbili 16-18 @ 24-72h, Tbili >20 at >72h
Dont do phototherapy for conjugated hyperbili (will bronze the skin & not 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

30

Erythroblastosis fetalis: increased RBC destruction from transplacental maternal Ab against infant RBCs
Presents within 1st 24h; direct Coombs positive
Gilberts syndrome: negative coombs, nL/low Hb, nL/high retic, hyperbilirubinemia, unconjugated hyperbili
Crigler-Najjar: deficiency of UDP glucuronyosyltransferase (severe deficiency = cant conj = high unconj bili)
Conjugated bili: if high, think obstruction of biliary tree (e.g. choledochal cyst).
Could also be biliary atresia or other things that interfere with excretion
Necrotizing enterocolitis: transluminal, mucosal necrosis in premature infants; sporadic usually
Pneumatosis intestinalis on AXR (bacterial gas production in bowel wall) is pathognomonic
5-10% of VLBW babies. See feeding intolerance with bilious aspirates, abd distention, blood / heme+
stool, can end up in shock! Leukocytosis, neutropenia, thrombocytopenia, met acidosis too.
Tx: discontinue feeds & place an NG tube to suction. Give systemic abx & send cx. Get q6h AXR to
monitor for pneumotosis, free air. Give IVF for shock.
Will need surgery if free air seen or necrosis suspected. If not, 14d bowel rest & broad abx.

Immunology
Immunodeficiencies
Chronic
granulomatous dz

Poor superoxide
generation

Neutrophils, monocytes cant kill staph aureus, candida,

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

Leukocyte adhesion
deficiency

Disorder of
leukocyte
chemotaxis,
adherence

Recurrent sinopulmonary, oropharyngeal, cutaneous

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

SCID

Aut-rec or X-linked
Both humoral &
cellular
immunodec.

Decr. serum Ig, T-cells. Thymic dysgenesis

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

DiGeorge

22q11
microdeletion
Decreased T-cell
production

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

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

poor Ab response
to capsular
polysaccharides, Tcell dysfunction

X-linked rec with increases in serum IgA, IgE

Classic triad:
1. Thrombocytopenia (15-30k with small plts)
2. Eczema

Wiskott
Aldrich

31

(combined B&T)

XLA: X-linked
agammaglobulinemia
(Brutons)
Common Variable
immunodeficiency

Primary B-cell
deficiency (all 3
classes of Ab
decreased)
Humoral / B-cell

3. Recurrent infections (Pneumococcal otitis media, PNA

from poor Ab response to capsular polysacch; fungal /
viral by T-cell dysfunction)
Presents after 3 months of age (moms Ab go away)
Recurrent / simultaneous bouts of otitis media, PNA, diarrhea,
sinusitis at different sites but not fungal or viral infections
Hypogammaglobulinemia (low IgA, IgG); inherited disorder;
less severe infections than XLA

Selective IgA
deficiency

Humoral

Mildest, most common immunodeficiency. Normal levels of

other antibody classes. viral response OK but susceptible to
bacterial infections of resp, GI, urinary tracts

Job syndrome

disorder of
phagocytic
chemotaxis

Elevated IgE, eczema-like rash, recurrent, severe staph

infections

Ataxiatelangiectasia

variable humoral &

CMI defects

immunodeficiency, cerebellar ataxia, oculocutaneous

telangiectasia - most pts wheelchair bound by puberty, die
prematurely

Complement
deficiency

C5-C8 (terminal C)
is classic form

N. meningitidis infections!
Also higher risk of rheumatologic disease

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

Drug eruptions
e.g. amox allergy, also after adeno,
EBV, other viruses
Tx: Stop abx, can give
antihistamines if required

Morbilliform

maculopapular, coalescing rash,

especially truncal / centripetal

Type IV / V
hypersensitivity
(not immediate)

Urticarial

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

e.g. immediate drug eruptions, can

also be viral (& last for weeks!).
Type I
Food, new exposures are less
hypersensitivity
(mast cells,
common
histamine release)
Tx: stop abx, antihistamines

Erythema
multiforme

Fixed, targetoid, acral lesions;

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

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

Can deposit in joints, wont walk

Serum sickness is a more systemic
form

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SJS/TEN

DRESS

Big bullae, big, flat macular

lesions, then bullae, involves
mucous membranes
Drug eruption with
eosinophilia & systemic sx
Papular, follicular rash;
eosinophila, leukopenia; can get
hepatitis, pneumonitis, leaky
capillaries --> edema

Antibody
independent

SJS if < 10% body surface, overlap

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

Lymphocytic
mediators

8-10% mortality. Give steroids, IVIG

HHV-6, sulfonamides key

Hypersensitivity
Type I: anaphylactic reactions. Often IgE mediated. Basophils, vasoactive substances like histamine, etc.
Type II: Ab-mediated cellular cytotoxicity
Type III: Immune complexes
Type IV: DTH (T-cell mediated). Skin tests (PCN, carabapenems), etc.
Anaphylaxis:
If voice is changing, worry about the airway! Establish the ABCs before everything else!
Then consider subQ epinephrine, diphenhydramine, etc.
Hereditary angioedema: usually inherited C1 esterase inhibitor deficiency.
Allergic rhinitis: usually doesnt present til 5-6 years old (if younger, think infectious rhinitis / sinusitis)

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

33

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

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 dont eradicate; can be used as ppx to reduce
frequency of recurrences but doesnt work as tx of recurrent episodes.
Neonatal herpes: think vesicles on face, lymphocytic meningitis (red cells, lymphocytes, protein
elevated; glucose low-normal), thrombocytopenia with CNS infection signs (fever, irritibility, etc). HSV
encephalitis in neonates = 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 Csection
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). Dont give MMR
vaccine during pregnancy
(very low risk but can get
fetal dz).

HSV

Disseminated dz in multiple organs (liver /

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

Acyclovir

Most HSV-2 (reflects genital

herpes rates); infected
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

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

Isolate if neonatal
chickenpox (not congenital
varicella syndrome).

Syphilis

Within 1 month of birth:

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

Get an LP, CSF VDRL to

diagnose, give parenteral
penicillin G (IV or IM)

Mom with untreated

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

Also HIV: remember to get PCR, not relying on ab tests in kids who still have moms 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 doesnt coalesce
Roseola: From HHV-6. High fever, which then resolves, and maculopapular rash appears.
Can cause febrile seizures in fever stage.
Erythema infectiosum (Fifth disease, from parvo B19). slapped cheeks rash, then reticular rash
spreading out to extremities.
Can cause transient aplastic crisis in kids with Hb problems (e.g. SCD).
Varicella: dew drops on rose petals, not on palms/soles (can have some oral lesions), different stages.
7-21d incubation, most contagious just before rash, isolate until all crusted
Vaccine effective. Can give acyclovir if chronic pulm dz, > 12, on salicylates / steroids
Vs smallpox, which has same-aged lesions
Hand-foot-mouth: from coxsackie A1c.
Incubation 4-6d, 1wk rash, 1-2d prodrome (fever, anorexia, sore throat)
Herpangina - ulcerated vesicles on tongue, posterior pharynx
Diffuse vesicles / pustules / papules on erythematous base on hands, soles and hard palate
Rocky Mountain Spotted Fever: from Rickettsia rickettsii, gram-neg intracellular bacterium. Proliferates
inside endothelial cells --> thrombosis, increased vascular permeability. Highest between April /
September in south Atlantic states; tick-borne illness.
See fever, H/A, rash 7d after tick bite; nonspecific sx then rash on 2-5th day with blanching,
erythemaouts, macular lesions that progress to petichiae, purpura starting on wrists/ankles
and spread proximally to head / trunk over several hours; palms / soles involved too.
Treat with doxycycline in all ages
Lyme: Borrellia burgdorferi; first see erythema migrans 3-30 days after bite.
Early disseminated (days/wks) = multiple erythema migrans, CN palsies, meningitis, carditis
Late (>6wks) - arthritis (usually knee)
Treat with doxycycline if > 8 years old; oral amox or cefuroxime for kids < 8 (cant use doxy)

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

36

#1 presentation is gingivostomatitis (in anterior mouth); can autoinoculate

If ocular or near eye, get fluoroscene exam for HSV keratitis with optho
Recurs with stress - consider oral acyclovir when just tingling (prodromal phase)
Impetigo: honey colored, friable / crusting lesions; can have bullae / blisters (bullous 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 dont help, most recover just fine.
Neck abscesses:
Retropharyngeal abscess: usually in toddler < 4y: odynophagia, fever, posterior pharyngeal swelling,
Passively refuses to move neck 2/2 pain - more likely retropharyngeal
can spread to mediastinum (bad news)
Peritonsillar abscess: any age, but often in adolescent / young adult; most common abscess in peds pts
Sore throat, odynophagia; trismus (refusal to open mouth) more common than 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.

37

Give abx (amox or clinda) & get to dentist within next 48h

EBV: remember that Monospot / heterophile Ab test doesnt work well for young kids < 4 (get specific Ab test)

Otitis & related conditions

Common AOM organisms: S. pneumo, nontypable H. flu, M. catarrhalis.
S. aureus, E. coli, klebsiella, Pseudomonas if neonate or immunodeficient
Viruses too; etiology often unknown.
Treat: high dose amox --> augmentin in 3d if no improvement
May need tympanocentisis, cx of middle ear fluid if treatment resistant.
If a young child (e.g. 1 mo), with AOM, need to admit to hospital for sepsis workup (if feverish, irritable,
diarrhea, etc)
Otitis externa (Swimmers ear) - often Pseudomonas or other GNRs, S. aureus, occasionally candida / asperg.
Consider in kid who was at summer camp, exposed to water, etc.
Treat: topical polymyxin / corticosteroids mixture
Mastoiditis: Pinna pushed forward, fever, ear pain, swelling/redness behind ear after AOM
Dx: get CT for confirmation. Tx: myringotomy, fluid cx, parenteral abx (surgical drainage if no
improvement in 24-48h)
Cholesteatoma: congenital or acquired (eg recurrent otitis); small sac with epithelium containing debris.
Whitish mass protruding through tympanic membrane seen on otoscopy
Can cause CNS complication / grow aggressively - refer to ENT, CT temporal bones.

Respiratory infections
Lung findings:
Staccato cough: with croup or chlamydial PNA
Eosinophilia: think chlamydial
Biphasic stridor (insp & exp) and high fever - think bacterial tracheitis
Often viral URI sx first, then rapid increase in temperature, resp distress with secondary bact. inf.
Kids look toxic! intubate & use IV abx
DDx includes epiglottitis, etc.
Pertussis: Whooping cough in neonates, infants (nonspecific URI in adolescents & adults)
Spread via aersolized droplets from coughing. Highly infective if unimmunized. Immunity from vax wanes.
Course:
7-10 d incubation, then catarral phase (low grade fever, cough, coryza), then
2-6 wk paroxysmal phase (whooping on deep, sudden inspiration during intense coughing
spasm), posttussive emesis, can get facial petechiae, scleral hemorrhage from forceful coughing.
Young infants cant whoop (cant develop enough inspiratory force)
Last, convalescent phase for 2-8 wks
Labs: see significant lymphocytosis, can get NP swab DFA / PCR to detect
Treatment: hospitalize young infants. Can use erythromycin to shorten duration of illness(but only in
catarral phase), if given later, will reduce infectivity. Give erythromycin ppx to household / daycare

38

contacts irrespective of their immune status.

neonatal immunity not dep. on moms 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 cant drain (rx with vanc!)
Can also cause pleural effusion
Pneumococcal PNA: often with sudden onset of fever, cough, chest pain
Can fail outpatient therapy if amox (need high dose PCN, cefuroxime, amox/clav, or even vanc!)

Sepsis:

Early-onset (1st 6 days): think birth canal (GBS, H. flu, E. coli, Listeria)
Treat with amp/gent
Late-onset (7d-90d): think environment (coag-neg staph, S. aureus, E. coli, Klebsiella, Pseudomonas,
Enterobacter, Candida, GBS, Serratia, Acinetobacter, anaerobes)
Treat with vanc / 2nd or 3rd gen cephalosporin (vanc/cef, etc)
GBS is #1 cause sepsis in 1st 3 months; 80% are early onset (septicemia, PNA, meningitis) from vert trans
Often see resp signs first: apnea, grunting, tachypnea, cyanosis in 80%, hypotension in 20%
50% develop seizures within 24h.
Associated with prolonged rupture of membranes, apnea, hypotension in 1st 24h life, APGAR <
5 @ 1 min, rapidly progressing pulmonary disease. Early GBS: increased risk with ROM > 18h,
chorioamnitis, intrapartum T > 38C, previous GBS+ infant, young mother < 20, LBW or
prematurity
Prevent with screening @ 35-37 wks gestation. Use intrapartum abx if needed.
Listeria: gram + rod, rare infections in USA, from soft cheeses milk, undercooked chicken, hot dogs, etc.
Acquried transplacentally or by aspiration/ingestion at birth
Brown-stained amniotic fluid, febrile mom, erythematous pustular rash on baby, pallor, poor
feeding, tachypnea, cyanosis, MONOCYTOSIS on CBC, 30% mortality for early onset dz

Meningitis
Organisms by age of patient:
< 1 mo

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

1-2 mo

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

40

2mo-6y
>6

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

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

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

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

CSF in meningitis
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

41

E. coli (EHEC: can cause bloody diarrhea but often with no fever; EIEC = no blood)
Culture on MacConkey sorbitol to diagnose O157:H7
Yersinia a/w reactive arthritis, erythema nodosum. Can localize to RLQ (pseudoappendicitis)
Dx: Get stool cx, fecal leukocytes (just indicates inflammation)
HUS: in E. coli O157:H7, #1 cause acute renal failure in kids - usually younger than 4 yrs

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
name

Parasite
name(s)

Source

Signs/sx

Dx

Tx

Fecal-oral

Most asx.
Hemoptysis, pulm
infiltrates, abd pain,
distension,
obstruction

Stool: see eggs,

occasionally
adult worms in
stool or coughed
up

Albendazole,
mebendazole, pyrantel
pamoate, piperazine to
clear obstruction

Ovoid eggs in
stool

Mebendazole,
albendazole, pyrantel
pamoate, also iron
supplement

Ascariasis

Ascaris
lumbricoides

Hookworms

Ancyclostoma
duodenale,
Necator
americanis

Penetrate skin

Pruritis, rash @ entry

site. Epigastric pain,
diarrhea. Anemia
from blood loss, resp
sx

Pinworms

Enterobius
vermicularis

Ingestion of egg

Nocturnal perianal
itching

Tape test (O&P

not useful)

Pyrantel pamoate,
mebendazole,
albendazole

Strongyloides
stercoralis

Larvae
penetrate skin,
to lungs, to
intestines, can
go back & forth

Epigastric pain, emesis,

diarrhea,
malabsorption, wt loss

Larvae in feces,
or string test to
sample duodenal
fluid

Ivermectin,
thiabendazole

Egg ingestion
(soil
contaminated
with dog/cat
feces) - kid

Fever, cough, abd pain;

hepatomegaly,
ronchi, wheezing,
skin lesions,
eosinophilia

Strongyloids

Visceral /
ocular larva
migrans

Toxocara spp

Clinical pres,
serologic testing,
microscopy of
tissue

Visceral: self limited.

Ocular:
diethylcarbamazine,
albendazole,
mebendazole (but all

42

drugs can cause

inflammatory rxn!)

eating dirt!

Whipworms

Trichinellosis

Trichuris
trichiuria

Trichinella
spiralis

Egg ingestion

Proctitis, bloody
diarrhea, abd pain,
rectal prolapse

Lemon-shaped
eggs in stool

Mebendazole /
albendazole

uncooked pork,
other raw meat

First wk: abd pain,

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

Eosinophilia on
labs.

Organisms can become

encysted, stay viable
for years in muscle

Leptospirosis: #1 zoonotic infection worldwide

exposure to dogs, cats, rats, livestock, other wild animals (urine)
Most often subclinical, can also be symptomatic, starting with septicemic phase of fever, chills, mm pain,
pharyngitis, H/A, conjunctival injection, photophobia, cervical adenopathy, then...
anicteric form - symptoms resolve, then immune phase (meningitic sx return, can lst for month)
icteric form (Weil syndrome) - severe sx with liver, kidney dysfunction
Treat with PCN, tetracycline (in children 10+)

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 theyre 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, cant do PO, or < 6 mo for 10-14d

Brain abscess: consider especially in kids with right to left shunts (eg TetFal).
fever, H/A, lethargic, nystagmus, ataxia, etc - get a CT/MRI

43

Acute Otitis Media: Can be viral (RSV, paraflu, flu) or bacterial (S. pneumo, nontypable H. flu, M. cat)
Bulging TM, erythematous, opaque, poor light reflex, decreased mobility, acute hx sx
DDx:
OME: fluid (poor mobility of TM) but no evidence of inflammation (gray/clear TM, no sx)
Myringitis: inflammation of TM but normal mobility, usually with viral URI
Otitis externa: ear pain, worsened with manipulatino, canal hurts.
Mastoiditis: anteriorly displaced earlobe, high fever, tender. Give IV abx & may need surg
Tx:
Abx if younger than 24 months, at risk for poor follow up, ill appearing, immunodeficient, or
with recurrent / severe / perfd AOM, give high dose amox. If no improvement in 48h, augmentin
If older than 24 mo and disease not too severe, decide abx vs pain control & watchful waiting

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 bakers yeast
MMR: anaphylaxis to neomycin, gelatin; also pregnancy, immunodeficiency
IPV: anaphylaxis to streptomycin, polymyxin B, neomycin
Varicella: anaphylaxis to neomycin, gelatin

Neonatology
APGAR:
Score

Appearance

Blue, pale

Acrocyanosis

Completely pink

Pulse

Absent

<100 bpm

>100 bpm

Grimace
(reflex irritability to nose suction)

No response

Grimace

Cough / sneeze

Activity

Limp

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

44

Drug therapy (epinephrine) after 30s of compressions if pulse still < 60

Transient tachypnea of the newborn: otherwise healthy full-term baby with tachypnea at ~1h of life
From incomplete evaculation of fetal lung fluid in full term infants
More common with C-section, disappears in 24-48h of life, can give supplemental oxygen PRN
Perihilar streaking & fluid in fissures on CXR.
Meconium aspiration syndrome: aspiration during delivery --> respiratory distress
hyperinflation + patchy infiltrate on CXR
Can see air trapping which can lead to PTX, especially if you use PEEP
endotracheal intubation + direct suction em out before thorax delivered (before 1st breath)
May need some iNO for pulmonary HTN
RDS: preemies, surfactant deficiency, give em surfactant. Lungs mature starting at 32 wks.
ground glass reticulonodular pattern with air bronchograms, decreased aeration on CXR
Lecithin:sphingomyelin ratio > 2 is predictive of good lung development
Maternal steroid administration can speed up production of surfactant; also PROM, stress,
maternal narcotic addiction, preeclampsia, hyperthyroidism, theophyllin
Maternal diabetes (fetal hyperglycemia, hyperinsulinemia) can slow down surfactant production
Give surfactant, then decrease FiO2 to reduce O2 toxicity (<60% FiO2 is better). May need NC / CPAP /vent
Apnea of prematurity: apnea > 20 sec (or with cyanosis / sx or brady < 100 bpm)
Usually mixed central / obstructive.\ picture.
DDx vs periodic breathing (normal in neonates, infants) - pauses of 5-10s with rapid breathing aftewards
A/w bradycardia (<80bpm in newborn). Needs BVM if hypotonic, pallor. Treat by maintaining skin
temp, supplemental O2, tactile stimulation, caffeine to sitimulate respiratory center. Monitor for ~7d
without A/B episode; can send home with apnea monitor for period of time as well.
CDH: herniation of abdominal contents, usually L side, leads to pulmonary hypoplasia.
Mostly left posterolateral diaphragm defect (Bochdalek hernia)
See immediate respiratory distress, scaphoid abdomen, cyanosis, heart sounds displaced to right side;
diminished breath sounds on same side
Dont bag & mask (bowel gas accumulates in chest, get worse) - INTUBATE!
Dont try to put a needle in to aspirate fluid - you could puncture the bowel!
DDx includes congenital cystic adenomatoid malformation: embryonic disruption of broncihole
development, big cystic mass IDd on prenatal ultrasound, causes pulmonary hypoplasia but stomach &
intestines in the right place
Omphalocoele: viscera herniate @ umbilicus into sac covered by peritoneum, amniotic membrane.
A/w beckwith wiedemann. Polyhydramnios in utero.
Management: Do C-section to prevent rupture of sac. If small, repair. If large, cover with prosthetic
material, reduce, & repair later (not a surgical emergency if sac intact).
Gastroschisis: no sac, herniation of intestine through abdominal wall lateral to umbilicus.
Polyhydramnios in utero. Management: surgical emergency (put Silastic silo over exposed bowel; reduce
over days)

45

IVH (intraventricular hemorrhage) - especially in VLBW babies, first 3 days of life, many asx.
Dx with anterior fontanelle U/S (all VLBW should be screened with one)
Manage by maintaining cerebral perfusion but controlling intracerebral pressure. Follow with U/S.
HIE (hypoxic ischemic encephalopathy) - big cause of neonatal morbidity / mortality. Often 2/2 intrapartum event
#1 cause of neonatal seizures; often present with severe perinatal deprssion / asphyxia needing resusc.
#1 predictor of long-term morbidity = neuro exam @ 1 week of life (good if able to take full oral feeds,
normal exam - chances for full recovery very good).
Muscular torticollis: neck twisted to one side in neonate s/p difficult delivery (big/breech), palp. SCM mass
Get radiographs to rule out cervical spine injury before doing any stretching!
Treat initially with passive SCM streching. Can lead to facial asymmetry if not taken care of.
DDx:
Klippel-Feil syndrome: congenital fusion of portions of cervical vertebrae, restricted neck
movement, short neck, low hairline. A/w Sprengel defomity (congenital elevation of scapula),
structural urinary tract abnormalities
Sandifer syndrome. GERD, hiatal hernia, and head posturing (can look seizure like). Get
esophageal pH probe to look for reflux!
Dystonic reaction to meds (metoclopramide or antipsychotics) - tx with diphenhydramine
Also retropharyngeal abscess, tumors, dystonia, Wilson dz, syringomyelia, other stuff
Apt test: helps distinguish ingested maternal blood from babys blood in neonate with bloody stool
(fetal hemoglobin is alkali resistant)
Subgaleal hematoma: Bleed into subaponeurotic space; crosses suture lines, expands rapidly
can lose big blood volume / get hemodynamically compromised - take to NICU!
Cephalohematoma: Bleed btwn skull and periosteum (rupture of bridging vessels); does not cross suture lines
Especially after prolonged delivery; usually doesnt cause compromise, resolves / resorbs
can cause indirect hyperbilirubinemia
Caput succedaneum: Serosanguinous, between scalp & periosteum, crosses suture lines
associated with pressure of head against cervix (vaginal deliveries)
Soft, spongy scalp; observe only! Goes away on its own.

Propranolol is bad for baby during delivery if mom takes it - baby cant respond to bradycardia; a/w brady
episodes, also apnea / failure to develop tachycardia during an asphyxiation in delivery

46

Labs at birth:
SGA infants can have decreased uteroplacental blood flow, placental infarction - results in fetal
nutritional deprivation, intermittent fetal hypoxemia --> decrease in glycogen storage &
polycythemia
Glc: 30-40 is normal in full-term infant in 1st postnatal day
Ca: decline during first 2-3 postnatal days; only abnormally low below 7.5-8 mg/dL
HyperMg: common when mom got MgSO4; asx or floppiness
Hct > 65% = polycythemia; get increased blood viscosity

Hypervisocity syndrome: tremulousness, jitters --> sz (sludging, thrombi); can

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

47

Postmaturity: > 42wks. Dry, cracked, peeling skin, malnourished appearance common at birth
Can see meconium aspiration / resp depression, PPHN, hypoglycemia, hypoCa, polycythemia
Polyhydramnios if fetus cant swallow (abdominal wall defects, diabetes, anencephaly, myelomeningocoele,
esophageal / duodenal atresia, diaphragmatic hernia, cleft palate)
Oligohydramnios if fetus cant excrete fluid.
Potter sequence if bilateral renal agenesis (clubbed feet, compressed facies, low-set ears, scaphoid
abdomen, diminished chest wall size). Higher risk of resp failure than renal insufficiency.
Neonatal hypoglycemia: may have transient blood glucose in 30s and be OK; definition is <40.
But persistent BG < 60 - look for pathology (inborn errors of metabolism, IDM, etc)

Fetal exposures
Fetal alcohol syndrome:
small for gestational age, microcephaly, small palpebral fissures, short nose, smooth philtrum, thin
upper lip, ptosis, micropthalmia, cleft lip/palate, CNS abnormalities (average IQ = 67)
Dilantin: midface hypoplasia, low nasal bridge, hypertelorism = big gap between eyes, growth retardation,
accentuated Cupids bow of upper lip, cardiovascular anomalies, etc.
Infants of Diabetic Mothers (IDM)
Large babies (macrosmia), increased fetal O2 requirements --> fetal hyperinsulinemia
May have hypoglycemia at birth - immediate feeding if 25-40, IV glucose if <25
Polycythemia --> thrombosis (partial exchange transfn if hct > 65), hypoCa, hyperBili too.
Consider renal vein thrombosis in IDM with abdominal mass (hydronephrosis) as neonate!
Rarely, can see caudal regression syndrome (hypoplasia of sacrum, lower extremities).
Also a/w congenital heart dz, NTD

Neurology
Head Trauma
Subdural hematoma: more common in kids < 1; rupture of bridging veins; blood between dura & arachnoid
More morbidity; less mortality than epidural (brain parenchyma involved
Epidural hematoma: more common in older kids; skull fx + middle meningeal aa lac, blood btwn dura & skull
More mortality; less morbidity than subdural (under pressure). Classically with lucid interval
Basilar skull fx: periorbital (raccoon eyes) or postauricular (Battles sign) bruising,
Can also see hemotympanum, CSF rhinorrhea / otorrhea.
If GCS is less than 8, then you have to intubate! (different GCS for kids)
Neural tube defects: no folic acid, valproic acid / carbamazepine exposure contribute. elevated AFP in mom
Spina bifida: NTD with incomplete fusion of vertebral arches
Myelomeningocoele: contains neural & meningeal tissues. Leads to hydrocephalus (get VP shunt)

48

Meningocoele: just meninges

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

Hydrocephalus: bulging fontanelle; poor feeding, irritable / lethargic, downward deviation of eyes (setting
sun sign), spasticity, etc. can indicate increased ICP.
Cushing triad (hypertension, bradycardia, slow / irreg respirations) is a late finding.
Usually get VP shunt (or 3rd ventriculostomy if acqueductal obstruction) to open floor of 3rd vent.
Shunt infections: most often S. epidermidis.
Pseudotumor cerebri: benign but important cause of H/A, often overweight females
?from impaired CSF resorption. See papilledema but normal CT
LP: increased opening pressure; serial LPs resolve headache
Can also use acetazolamide / furosemide if protracted cases.

CNS tumors:
Infratentorial:
Tumor

Age @
onset

Manifestations

5 yr
surv

Comments

Cerebellar
Astrocytoma

5-8

Ataxia, nystagmus, head tilt, intention

tremor

90%

20% of all primary CNS

tumors

Medulloblastoma

3-5

Obstructive hydrocephalus; ataxia;

CSF mets

50%

20% of all primary CNS

tumors. Acute onset of sx

Ependymoma

2-6

Obstructive hydrocephalus;
rarely seeds CSF

50%

25-50% are supratentorial

Brainstem ( e.g.
pontine) glioma

5-8

Progressive CN dysfxn, gait disturbance,

pyramidal tract / cerebellar signs (brisk <10%
reflexes, spasticity, babinski, etc)

Worst prognosis of all

childhood CNS tumors

Supratentorial
Tumor

Age @
onset

Manifestations

5 yr
surv

Comments

Cerebral
astrocytoma

5-10

Sz, H/A, motor weakness,

personality changes

10-50%

Poor survival if high-grade

gliomas

Craniopharyngioma

7-12

Bitemporal hemianopsia,
endocrine abnormalities

70-90%

See calcification above sella

turcica. Diabetes insipidus
common after surg

Optic glioma

<2

Poor visual acuity, exopthalmos,

50-90%

NF-1 in 70% of pts

49

nystagmus, optic atrophy, strabismus

Germ cell tumor

Parinaud syndrome (paralysis of

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

75%

Germ cell line

May secrete B-hCG or AFP

Epilepsy Syndromes
Epilepsy
Syndrome

Onset

Types

Other findings

EEG

Treatment

LennoxGastaut

Childhood (1-8y)

Tons of different
kinds

Mental
retardation, bad
prognosis

Slow spike &

wave (1-2Hz)

VPA,
lamotrigine,
felbamate

Benign
rolandic
epilepsy

Childhood (5-10y)

Simple partial
(mouth, face),
GTC

Nocturnal
preponderance,
usually remits

Centrotemporal
spikes

Carbamazepine
or no treatment

Absence
epilepsy

Childhood (5-10y)
& Juvenile (7-16y)

Absence, GTC

Hypervent =
trigger

3 Hz spike &
wave

Ethosuxamide,
VPA

Juvenile
myoclonic
epilepsy

Adolescence, young Myoclonic,

adulthood
absence, GTC

Early morning
preponderance

4-6 Hz polyspike
& wave

VPA, lamotrigine

Simple febrile seizures: between 6 mo and 6 yrs, elevated temperature, generalized, short (<15m), selflimited seizure without focal findings; short postictal state, often with prior hx or FHx
Only need to get EEG if complex (long, focal signs, etc)
Classic side effects of AEDs
Carbamazepine (partial, GTC): leukopenia, thrombocytopenia, aplastic anemia
Ethosuxamide (absence): rash, rarely aplastic anemia
Phenobarb 9GTC or partial): nystagmus, sedation or activation, ataxia
Phenytoin (GTC, partial): nystagmus, rash, drug-induced lupus, gingival hyperplasia, polyneuropathy
VPA (GTC, absence, partial): hepatotoxicity, N/V, neural tube defects
Gabapentin (partial): dizziness, somnolence, ataxia, fatigue
Lamotrigine (GTC, partial, absence, lennox-gaustault): rash including SJS, also N/V, rash, double vision
Topiramate (GTC, partial, absence, L-G): confusion, headache, ataxia
Status epilepticus: seizure > 30m or 2+ sz without full recovery of consciousness (in reality, treat > 5m sz)
1. ABCs, get IV access
2. Benzos (lorazepam 0.1 mg/kg or diazepam)
3. + phenytoin 20 mg/kg
4. + phenobarb 20 mg / kg
5. + anesthesia (midazolam, pentobarbital, propofol) to suppress brain electrical activity

50

Acute infantile hemiplegia: acute onset of a hemisyndrome with eyes looking away from paralyzed side
Thromboembolic occlusion of middle cerebral artery or major branches (basically stroke / TIA)
Breath holding spells: can be pallid or cyanotic; sudden pain / upset --> cry --> color change --> child holding
breath in exhalation; can lose conciousness briefly and can have stiffening / transient clonic movements.

Cerebral palsy

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

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

Genetic Diseases
Disease
Huntingtons
Disease

Werdnig-Hoffman

Friedrichs ataxia

Inheritance

Genes

Presentation

Pathology

Aut-dom

Chromosome 4
(CAG repeats in
huntingtin)

Chorea, depression /
behavioral changes,
dementia

Atrophy of caudate (
GABAergic neurons)

Aut-rec

Floppy babies, tongue

fasiculations, death 7mo

Degeneration of
anterior horns (LMNs
only)

Aut-rec

Gait / falls / diabetes

nystagmus / dysarthria /
DM / cardiomyopathy /
kyphoscoliosis

Dorsal columns /
lateral CST /
spinocerebellar /
dorsal root ganglia
(hyporeflexic)

Frataxin gene, GAA

repeats, Chr 9

Brief episodes of ataxia /

nausea / vertigo

Episodic Ataxia
Spinocerebellar
ataxia (SCA)

Auto-dom

Various, mostly CAG

repeats

Progressive gait /
dysarthria in early adult

51

life other neuro

abnormalities, mild /
moderate cognitive
decline late
Metachromic
leukodystrophy

Aut-rec

Charcot-MarieTooth (Hereditary
motor & sensory
neuropathy)

Lysosomal storage
(arylsulfatase A
deficiency)

progresive ataxia,
weakness, peripheral
neuropathy; macular
lesions (gray)

Defective
production of
myelin sheath
proteins

Adolescence; progressive,
symmetric distal muscular
atrophy (legs / feet
hands), hammer toes /
pes cavus

Demyelination (
sulfatides --> myelin
sheath)

CMT-2 is axonal motor,

others demyelinating

Neurocutaneous disorders (phakomatoses)

Sturge-Weber

Spontaneous, chr
3

Port-wine stains (nevus flammeus), ipsilateral leptomeningial

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

Tuberous sclerosis

Aut-dom with
variable
penetrance

Hamartomas (CNS, skin, organs), cardiac rhabdomyomas, renal

angiomyolipomas, giant cell astrocytomas, MR in 65%, sz, ashleaf spots, sebaceous adenoma, shagreen patch,

NF type 1 (von
Recklinghausens dz)

Aut-dom, chr 17

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

neurofibromas (skin), gliomas / ependymomas

NF type 2

Chr 22

Meningiomas, gliomas, bilateral acoustic neuromas

Von-Hippel-Lindau dz

Aut-dom, chr 3

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

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

ADEM

Post-infective (chickenpox,
measles) or post-vaccine
(rabies, smallpox)

Perivenular inflammation, demyelination post-infection.

Abrupt onset, monophasic. Fever, H/A, drowsiness, sz, coma;
can have hemi/paraplegia, CN palsies as well

Post-campylobacter or
herpesvirus (CMV / EBV)

Antiganglioside Ab (GM1, others); ascending motor paralysis

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

GBS: AIDP

52

CIDP

Miller-Fischer

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

evolving with areflexia / impaired vibration.

GBS variant post infectious

Anti GQ1b Ab, ataxia, areflexia, ophthalmoplegia;

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

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.

53

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

Acute leukemias: 97% of all childhood leukemias. rapidly fatal if untreated, but curable.
Acute lymphoblastic leukemia (ALL):
More common (75%), increased risk with ataxia-telangiectasia, XLA, SCID, L3 ALL a/w EBV.
Hyperleukocytosis (WBC > 200,000) = vascular stasis (esp if > 300k) - bad! Mental status
changes, H/A, stroke, hypoxemia, etc. Can use hyperhydration, leukophoresis to tx
Treatment of ALL: induction of remission,consolidation to kill more cells (incl intrathecal
methotrexate), interim maintenence (less intense), delayed intesification (another intense
round), maintenence (ongoing, to maintain remission)

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%, also have mediastinal LAD
B symptoms: unexplained fever, drenching night sweats, unintentional wt loss (> 10%/6mo)
Diagnosis:
Get a chest radiograph to look for mediastinal mass; will guide how bx done (anesthesia? need to
protect airway if impinged upon?)
Biopsy next: look for Reed-sternberg cells. Fewer is better for prognosis (lymphocyte

54

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
Iphosphamide - hemorrhagic cystitis, also renal / ototoxicity, infertility
Cisplatinum (platinates, doesnt 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

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: Horners syndrome,
palpable mass. MULTIQUADRANT abdominal mass
Mets: lymphatic, hematogenous. Wt, loss, fever, bone marrow failure (pancytopenia), cortical bone pain ->
limp (Hutchinson syndrome), liver infiltrate -> hepatomeg (pepper syndrome), periorbital infiltration
(proptossis, ecchymoses = racoon eyes), LN enlargement, skin infiltration (palpable nontender
subcutaneous blue nodules).
Paraneoplastic: can see watery diarrhea (VIP secreting), opsoclonus-myoclonus too
Dx: Send urinary VMA, homovanillic acid (catechols), get bx
Prognosis: stage with INSS (international neuroblastoma staging system - I=localized & excised ; I =
localized, not excised, III = tumor beyond midline (incl. contralateral LN involvement), IV = distant mets,
IVS = age < 1 + mets, with primary tumor that would otherwise be I or II. I, II, IVS have better prog than
III/IV. Best prog for infants < 1. N-myc has worse prognosis. Tx with chemo, surgery, radiation,

55

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
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

Ewing
Sarcoma

Mostly adolescents, M>F

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

Flat and long bones

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

Rad: lytic with

calcified periosteal
elevation (onion
skin). Get bx

chr 11-22 translocation.

Tx: rad/surgery +
chemo (almost all pts
have microscopic mets).
if no mets, 5yr > 66%

Osteosarcoma

Mostly adolescents, M>F

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

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

Rad: lytic with

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

Clinical mets in 20%;

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

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Ophthalmology
Strabismus: misalignment of eyes. Transient strabismus OK until 4 mo age.
4% kids have strabismus, more common in CP, Downs, hydrocephalus, brain tumors
Esotropia = inwards, exo=outward, also upward/downward. Dx with light reflex, cover-uncover tests
Amblyopia, reduced steropsis (depth perception) can result.
Tx: realign (medical, surgical intervention), earlier is better for chances of normal acuity/alignment
Amblyopia: reduced vision in otherwise normal eye (2-5% kids, most susceptible birth - 7yrs. Ealier = worse)
Strabismic (33%): suppress retinal images from misaligned eye, if child younger than 4-6 yrs
Anisometric (33%): unequal refractive erros in eye; blurred retinal image
Rest are mixed mechanism. All can lead to permanent vision loss.
Tx: correct refractive errors with glasses, fix cataracts, etc. Restore alignment if strabismic. Then occlude
better-seeing eye to force visual development in affected eye. Tx > 8 y/o is unlikely to be successful
Leukocoria: DDx:
retinoblastoma (life threatening; see onc section)
cataracts (most common cause, 1:250 newborns, congenital or acquired - infection, etc. Tx with surgical
removal; remove before 2-3 mo age to prevent irreversible amblyopia)
retinopathy of prematurity (retinal vascular disease, O2 exposure, VLBW preemies. Tx: many regress
spontaneously; lasar ablation of retina or cryotherapy can reduce progression to retinal detachment)
Also congenital glaucoma, oxular toxocariasis (parasitic, often acquired)
Nasolacrimal duct obstruction: causes chronic overflow tearing in absence of conjunctivitis in 25% neonates.
Failure of distal membranous end of nasolacrimal duct to open.
If mucopurulent discharge, tenderness of lower lib, think dacrocystitis (superimposed infection); use
warm compress, nasolacrimal massage, occasionally 1st gen cephalosporins
Resolves spontanously by 1 y/o in 96%. Refer if sx persist. At 12-15mo, probe nasolacrimal duct.
Infantile glaucoma: classic triad of tearing, photophobia, blepharospasm. May see one eye enlarged!
Can be isolated or a/w congenital rubella, NF-1, sterge weber, marfan, others
Opthalmia neonatorum: conjunctivitis in 1st month of life.
Ocular discharge in neonate = evaluate (tears absent in first few weeks of life)
Presentation: eyelid edemia, conjunctival hyperemia, ocular discharge.
DDx of most common causes below; also HSV, S. aureus, H. flu, pseudomonas (after 1st week of life). Tx:
refer if gonococcus, HSV, P. aeurg, or if signs worsem / sx perist > 3 days. Also Tx parents / partners if STD!
Prophylaxis: Erythromycin drops (C. trach, N. gonorrhea).
Onset

Features

Complications

Dx

Treatment

Chemical

24h

bilat, serous discharge,

conjunctival hyperemia

Self-limited

Exclude other
causes

None

N. gonnor.

2-4d

bilat, prurulent
discharge, eyelid edema,
chemosis

sepsis, meningitis,
arthritis, corneal
ulceration, blindness

conjunctival cx
(chocolate or
Thayer-Martin)

Topical
erythromycin,
IV cefotaxime,

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treat parents

C. trach

4-10d

unilat or bilat
mucopurulent
discharge, conjunictival
hyperemia

corneal scarring,
pneumonia

conjunictival
Chlamydial cx

Oral + topical
erythromycin*,
treat parents

* remember that systemic erythromycin in neonatal period has been linked to hypertrophic pyloric stenosis
Infectious Conjunctivitis (Pink Eye)
DDx: All have diffuse injection, normal vision
Viral: pain mild, clear mild/copious discharge, can crust, usually no itching, normal vision.
adenovirus, ECHOvirus, coxsackievirus are common etiologies
Bacterial: mild/moderate pain, mild/copoius mucopurulent discharge with definite crusting, no
itching. H. flu, S. pneumo, N. gonorrhoeae can be culprits
Allergic: no pain, clear discharge with mild/moderate discharge, no crusting but with itching.
Seasonal pollen or other allergens can be etiology
Often treated with abx drops / ointment x 5-7d (polymiyxin-bacitracin, TMP-polymyxin B, gentamicin,
ofloxacin); can culture of refractory. Self-limited diseases, but abx limit infectivity, decrease duration by 2
days. Some exceptions:
If N. gonorrhoae - need parenteral ceftriaxone.
If H. flu and ipsilateral otitis media, treat for otitis.
Do NOT give abx drops with steroids if HSV-1 is cause (more severe disease, visual impairment).
Ddx includes corneal abrasions (red, painful, tearing; sensitive to light, use slit lamp + fluorescine to see,
treat with eye patching +- topical abx, should heal within 24h)
Styes: Chalazion vs Hordeolum
Chalazion: sterile lipogranuloma of meibomian gland in tarsal plate. Firm but nontender. Excision
sometimes required; can be chronic / recurrent. Lid hygeine can help.
Hordeolum: infection of meibomain gland (internal) or sebacoues gland around eyelash follicle (external).
S. aureus usually. Local, tender swelling --> rupture to outside. Tx with warm compresses; I&D or
systemic antibiotics if cellulitis develops. little value for ophthalmic abx
Periorbital (preseptal) cellulitis:
Preseptal: no limitation of eye movements. Usually from skin breaks (S. aureus, group A strep),
hematogenous (S. pneumo, H. flu), inect bites, or sinus infection (S. pneumo, H. flu, M. cat).
Dx: warm, tender, indurated skin without eye pain around eye. +/- fever (if hematogenous) & signs of
etiologies above. Get LP if suspicious for meningitis.
Tx: IV abx as soon as possible. If after break in skin, PCNase-resistent PCN or 1st gen cephalosporin;
may need Vanc if concerned for MRSA. Otherwise use cefuroxime or 3rd gen cephalosporin if concerned
for meningitis. Switch to PO to complete 10 day course when symptoms go away.
Orbital cellulitis: this is an EMERGENCY
Infection behind orbital septum. Severe pain with eye movement, proptosis, vision changes, decr. EOM
Get CT scan for dx, look for spread of infection. May have orbital abscesses (drain)
Organisms: S. aureus, S. pyogenes, S. pneumo, H. flu, M. cat, anaerobes in upper resp tract
Start empiric IV abx (cefuroxime, +clinda if concern for anaerobes, or amp-sulbactam) x 3 wk course

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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 doesnt develop as cup - head of femur out farther
More common in breech deliveries, family hx, females, 1stborn children. A/w clubfoot, congenital
torticollus, metatarsus adductus, infantile scoliosis
Dx: Barlow, Ortolani. Older infants: Galeazzi sign (knees bent, hips flex, look for shortened limb).
Radiographs dont help until 4-6 mo (ossification); U/S is better from birth - 4 mo
Tx: ortho referral. Most stabilize by 2 wks. Pavlik harness (abducted, flexed hip) or body casting if older
Foot deformities:
Flexible = more benign (if you can mold it with hand, minimal intervention)
Metatarsus adductus (isolated in-toing of forefoot) - benign, from intrauterine positioning, ankle joint
range is unrestricted (restricted in clubfoot). If inflexible, may need serial bracing / casting @ 6-12m
Talipes equinovarus (clubfoot) - rare, debilitating. medial rotation of tibia, fixed plantar flexion at
ankle, inversion of heel, metatarsus adductus. cant dosiflex; foot more deformed; limp + ulceration +
calluses. Need early intervention before walking! (serial casting, surgical repair if failed)
Causes of limp
Trauma is #1 at any age. Otherwise, by age (yrs)
1-3: infection, inflammation, paralytic syndromes
3-10: L-C-P, toxic synovitis, JIA
Pubertal: SCFE
Legg-Calve-Perthes: avascular necrosis of femoral head, etiology unknown. Mostly males / younger
kids (4-8 y/o) with painless, mildly painful limp developing insidiously, often referred to knee / thigh.
Limited ROM on abduction, flexion, internal rotation.
Radiographs: initially normal, then epiphyseal radiolucency.
Treat by contain femoral head in acetabulum, usually ischemic bone is resorbed then reossification
over 2-5 yrs. Often just observed if younger; brace/cast/surg if older. Incr. arthritis later in life
SCFE: prox femoral growth prate separates; femur head slips off & rotates into inferior/posterior position
Think overweight pubertal kids (esp males). 25% become bilateral. No relation to trauma.
Presentation: limp, pain (hip/groin or referred to knee). Limb shortening, limited internal
rotation and flexion on exam. Get radiographs in frog-leg lateral position to see displacement.
Tx: pin fixation acutely; chronic may require osteotomy
Osgood-Schlatter: pain, swelling, tenderness over tibial tuberosity.
From repetitive stress to distal insertion of patellar tendon on proximal tibia
Think adolescent growth spurt (10-15y)
Pain worse with running, jumping, kneeling, squatting but better with rest.
Tx with activity modification, stretching before, rest/ice after activity; casting for up to 6 wks if severe; low
long-term morbidity
Blount disease: bowlegs (genu varum) that progress & worsen, can be unilateral

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

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.

Runners knee: anterior knee pain because of patellofemoral stress

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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!

Skiing

Skiers thumb: abduction & hyperextension of thumb --> sprain ulnar collateral ligament
during fall is #1

Hockey

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

Osteomyelitis:
in femur and tibia in kids; often in metaphysis (blood stasis, few phagocytes). 50% neonates with osteo
have septic joint as well.
Incidence bimodal: neonatal M=F, older kids (9-11) M>F
S. aureus is #1; also GBS/E. coli in neonates, Salmonella in SCD, pseudomonas if nail thru sneakers
Hx: fever, refusal to move limb; can have localized bone pain if older.
PE: Soft-tissue swelling, limited ROM, point-tenderness; can see sinus tracts sometimes draining pus
Labs: WBC can be normal; 50-60% blood cx positive. Should aspirate bone before abx started to get
organism, susceptibility, etc. Rads normal, then pereostial elevation / radiolucent necrosis @ 2-3wks. MRI
is better for imaging. CRP elevated in 95% (nl within 7d of tx). ESR elevated in 90% (nl after 3-4wks).
Tx: IV or high-dose oral abx for 4-6 wks.
Broad-specrum anti-staph, like cefazolin, nafcillin, oxacillin).
Neonates: GBS, GNR coverage
SCD: third-gen cephalosporin for salmonella
Narrow after organism recovered. Surgery if abscess / sequestrum found
Septic arthritis: more common than osteo. From bacteremia. Think infants, young kids mostly
Painful joint, fever, irritability, refusal to bear weight. Limited ROM, tender joint, +/- swelling on exam
DDx: osteomyelitis, inflammatory arthritis, reactive arthritis
Labs: tap joint. WBC> 25,000 in joint fluid, often get bacteria too (but GC is harder to isolate)
Neonates

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

Cefotaxime

Infants > 6wks

Young kids

hip

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

Ceftriaxone

Older kids

knee

S. aureus #1, also strep, gram-negs

N. gonorrhea if sexually active

1st/2nd gen cephalosporin or

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)

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happens weeks afterwards (kid who has arthritis who had diarrhea wks ago!)

Also on ddx of arthritis: leukemia (wt loss, appetite decreasing, nosebleeds from thrombocytopenia, bone pain)

Psych
ADHD - needs to be present in more than one setting and start before 7 yrs old, 6mo+ of sx
Inattentive, hyperactive, and combined types. DDx vs abscence sz.
Send questionnaires to parents, teachers.
Use simulants (methylphenidate, dextroamphetamine); atomoxetine (NE reuptake inhibitor, less tics
associated), also buproprion, imipramine / nortriptyline / pemoline. 70% respond
Comorbid oppositional defient disorder (most common) / conduct disorder is common; also
comorbid learning disabilities. send for full workup
Tics & Tourette Syndrome
Tics - nonrhythmic, spasmotic, involuntary, sterotyped; any muscle group
Transient tic disorder: common, often in boys; often FHx - eye blinking, facial movements,
throat clearing; lasts for weeks to a year then often resolves; can be chronic though
Tourette syndrome: life-long, motor + vocal tics for at least 1 yr without 3 months free of tics, needs to
be age < 18, causes disturbance
obsessive-compulsive behavior, high incidence of ADHD too
Treat with clonidine (alpha-2 receptor agonist which decreases NE by acting on locus ceruleus)
If that doesnt work, try atypical antipsychotics

Pulmonology
Things to remember: Cant get PFTs until 5-6 yrs. Intrathoracic = expiratory, extrathoracic = inspiratory
Upper airway obstruction
Neonates - noisy inspiration, increased WOB, retractions. Subglottic = high pitched, monophonic.
Supraglottic = variable, fluttering stridor, varies with position of head / neck. Pronounced difficulty
during feeding in infants. Tx based on etiology. If severe, may need tracheostomy until definitive tx
Choanal atresia - dangerous (obligate nose breathers), better with crying, dx by trying to pass 16
french catheter into nose.
Mandibular hypoplasia - leads to glossoptosis (tongue displaced backwards). Also kids with big
tongues (trisomy 21, macroglossia in B-W syndrome)
Vocal cord paralysis: uni / bilat, can be congenital but more frequently acquired. Hoarse voice too
Laryngeal webs: uncommon, congenital lesions; cause respiratory distress in delivery room,
disappears with intubation
Laryngomalacia: big floppy arytenoids or epiglottis. #1 cause congenital stridor; resolves over
1-3 yrs of life with growth
Subglottic masses (hemangiomas, cysts). Subglottic stenosis (acquired, from prior intubation)
Compression of upper airway by anomalous vessel
Older kids: acquired lesions become more likely.
Think enlarged tonsils, adenoids (esp during viral URI), foreign bodies, infections (acute
laryngotracheitis, peritonsillar / retropharyngeal abscesses, etc.

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Obstructive sleep apnea: daytime somnelence, poor growth, behavioral problems

Pickwickian syndrome: if leads to chronic hypoventilation; often in obese kids

Get polysomnography; normalize airway anatomy (remove tonsils / adenoids if

needed)

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

Asthma:
Wheezing kids: consider also inflammation / failure to clear secretions (bronciholitis, GER with aspiration,
CF, TEF, primary cystic dyskenesia), intraluminal mass (foreign body, tumor, granulation tissue), dynamic
airway collapse (tracheobronchomalacia), extrinsic compression (vascular ring, mediastinal LN/mass)
Rule of 2s:
symptoms 2x/wk (or less)
nighttime awakenings 2x/month (or less)
short-acting beta-agonist 2x/wk (or less)
fewer than 2 exacerbations needing corticosteroids in last 6 months
with no interference with normal activity is intermittent asthma, better control. (exception - no
nighttime awakenings allowed in kids, 0-1 exacerbations per year).
Additionally, FEV1 between exacerbations should be > 80% predicted; peak flow > 85%
Stepwise therapy:
If well controlled, check up q1-6mo. If well controlled > 3 mo, consider step down
If not well controlled, step up & re-evaluate in 2-6 wks
If very poorly controlled, consider short-dose oral corticosteroids, step up 1-2 steps, re-eval 2 wks
All steps get SABA PRN. Then add low dose ICS --> medium dose ICS / add LABA, LTRA, or
theophylline (either order) --> high dose ICS + LABA --> add oral corticosteroids
Higher risk of death: noncompliance, poor recogn. of sx, delay in Tx, hx intubation, AA, steroid dependence
The pathway: acute exacerbation
3x nebs: albuterol + atrovent (combi), then albuterol, then albuterol + atrovent
2 mg/kg steroids x 5 days
Cystic Fibrosis: disordered exocrine gland function is hallmark, leading to abnormal viscid secretions
From CFTR Cl channel mutation on chr 7 (surface of epithelial cells - gets sequestered inside cell).
Aut-rec; most frequent in Caucasians, 75% from deltaF508 mutation
Also cant bind Pseudomonus in lungs; decreased NO production (exaggerated inflammation)
Screen with pancreatic immunoreactive trypsinogen (IRT) test (blood spot screening) - elevated in CF
False negatives possible, so do more testing if newborn screen negative & high susp (mec ileus, etc).
Findings: nasal polyps (test these kids for CF!).
Infections: S. aureus, H. flu early in childhood --> P. aeurg in late childhood / early adolescence,
Burkholderia cepacia is really ominous (accel. pulm. deterioration, early death)
GI: pancreatic insufficiency, bowel obstruction, rectal prolapse, diabetes, hepatic cirrhosis.
Decreased fat absorption (pancreatic loss) - large, bulky, foul-swelling stools. Often see failure to
thrive as initial manifestation. Meconium ileus too (no stool passage, vomiting / abd distention,
distended bowel loops, bubbly pattern in intestine with narrow colon on abd x-ray, surgical
emergency!)
Pulm: wheezing, air trapping, obstructive PFTs, chronic sinus disease
GU: obstructive azoospermia in males, reduced fertility in females.

63

Dx: sweat chloride test, genetic/prenatal testing

Tx: airway clearance (chest PT, bronchodilators to relax smooth mm, abx to clear infections, decrease
inflammation). Also recombi human deoxyribonuclease (breaks down thick DNA complexes). Alternate
months of inhaled tobramyicin inhaled for Pseudomonas-infected people. lung transplant if life
expectancy < 1-2yrs, 50% survival post transplant @ 5 yrs.
Sequelae / warning signs
Hemoptysis = alarming if severe broncihectasis (can erode into arteries; frank blood loss).
Spontaneous PTX alarming too. Need to place chest tube; pleurodesis (obliterate pleural space) to
prevent recurrence.
Can get chronic pulmonary HTN, cor pulmonale if advanced disease.

Primary ciliary dyskinesia: aut-rec group of diseases; cilia dont work = bad mucociliary clearance
Recurrent bronchial obstruction, sinusitis, chronic otitis media, recurrent resp infections
Sx similar to CF, asthma
Dx: abnormal ciliary beat under light microscopy or microsopic exam of ciliated cells in nose, bronchi
Tx: simlar to pulmonary CF components, although not the same P. aeurg propensitiy.
Restrictive lung diseases: much less common in kids
Pectus excavatum (depression of sternum) or carinatum (outward), if severe
Neuromuscular disease (GBS, muscular dystrophy, SMA)
Big lesions occupying intrathoracic space (e.g. diaphragmatic hernia, etc)
ILD: rare. Sarcoid, desquamative interstitial pneumonitis, etc.
Idiopathic pulmonary hemosiderosis (IPH): post diffuse alveolar hemorrhage; idiopathic or with bleeding
disorder; see hemosidin-laden macrophages (siderophages) in bronch washings. An example of an ILD
Consider in kids with fever, resp distress, CXR findings that look like PNA - but findings clear rapidly,
kids have lots of recurrent PNA and signs like clubbing that point to a chronic process.
Also see microcytic hypochromic anemia, low serum Fe, occult blood in stool (swallowed pulmonary
secretions). Get bronchoalveolar lavage.
Subset have hypersensitivity to cows milk (Heiner syndrome) & improve off of milk
Apnea of infancy: any cessation of breathing that lasts for 20 seconds or more, or involves color changes
(cyanosis or pallor), hypotonia, decreased responsiveness, bradycardia. treat underlying disorder (infection,
neurologic, respiratory, cardiac, GERD, abuse).
ALTE if parents believe could have been fatal
management: treat underlying disorder. Can put on home monitor which will sound alarm for apnea,
bradycardia, but dont reduce SIDS likelihood (since apnea does not raise SIDS risk).

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

Lab features

Notes

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APSGN

Puffy eyed kid, tea-colored

urine, RBCs, mild HTN after
sore throat or impetigo

low C3, normal C4

Positive ASO, anti-DNAseB

IgA
nephropathy

Recurrent painless
hematuria, usually after URI

IgA immune complexes in

mesangium

HSP

Common cause of nephritis,

but mostly younger kids 4-5

IgA immune complexes in

mesangium

Lupus nephritis Can present like APSGN

Consider if hematuria doesnt

resolve or C3 still abnl in 6-12w

Benign familial
hematuria

Aut-dom (FHx); persistent or

intermittent hematuria

Bx normal or thin basement

membrane.

Goodpasture
syndrome

Nephritis and pulmonary

hemorrhage (hemoptysis)

Anti-basement membrane Ab
(linear pattern)

Alport
syndrome

hematuria (often asx,

microscopic), proteinuria,
renal failure, hearing loss

95-98% recover well

Abx dont decr. risk
Steroids dont help

No progression to chronic
renal failure

Genetic (often X-linked)

defect in collagen
synthesis = abnl basement
membrane formation

Nephrotic syndromes: think marked proteinuria (>1,000 mg/m2/day); often mostly albumin in kids.
can get hypoalbuminemia and hyperlipidemia (as liver ramps up production of lipoproteins to respond
to low plasma oncotic pressure).
Classic presentation

Lab features

Notes

Minimal change

Kid with periorbital

edema, then lower
edemity edma, wt gain,
ascites

Normal light
microscopy; podocyte
foot process effacement
on EM

#1 cause by far in kids

Responds to steroids

FSGS

Older kids with nephrotic

syndrome

Focal (only some

glomeruli) & segmental
(only part of glomerulus)

Primary, or 2/2 HIV or

use of some drugs (e.g.
heroin)

Membranoproliferative
GN (MPGN)

Older kids with nephrotic

syndrome

IC deposits in
subendothelial space -->
rebuild BM on top -->
tram tracks

Membranous
nephropathy

mostly adults

Subepithelial spike &

dome deposits of ICs
binding to GBM

Can be a/w SLE, HBV

Bartter syndrome: aut-recessive condition, aka juxtaglomerular hyperplasia

P/W hypoK, hyperCa, alkalosis, hyperaldo, hyperrenin but normal BP
FTT (small for height, weight), constipation, past episodes of dehydration with really low serum K
Usually present between 6-12 months. Treat to prevent dehydration, nutritional support, fix K

65

Posterior urethral valves

think young male infant (only males!) with dribbling urinary screen, lower abdominal mass, U/S:
bilateral hydronephrosis, bladder wall hypertrophy. Older kids can have FTT, renal dysfunction, UTIs
get abdominal renal ultrasonography
cath the kid to relieve obstruction; +/- abx if UTI suspected.
definitive treatment: endoscopic transurethral valve ablation if Cr OK, urethra big enough
May need vesicostomy if UTI doesnt respond or narrow lumen or high Cr.
may have persistent hydronephrosis / require continued abx ppx
Vesicoureteral reflux (VUR)
Retrograde flow into ureters / can go back to kidney; more common in females, can lead to recurrent UTI
Tx depends on degree of reflux: from abx ppx to surgery
Roughly: grade 3 is where ureters start to enlarge. Monitor grade 1-2 +/- abx ppx, grade 3 definitely abx ppx,, grade 4-5 think about referring for sugrical fix.
TMP/SMX is best for abx ppx; nitrofurantoin #2, amox not great
VCUG shows ureters outlined on voiding (put contrast in blader, refluxes backwards)
Get annually, not more frequently (fluoro time is bad)
Resolves at 13% per year
Uretropelvic junction obstruction (UPJO): #1 cause hydronephrosis in chidlhood. Often visible in prenatal U/S.
May need surgical correction if obstruction causes sx, worsens 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 (doesnt increase resolution rates)

Renal Tubular Acidosis

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

66

has positive urine anion gap, with hyperkalemia (by definition) and urine pH < 5.5 (can still acidify the
urine OK).
Use furosemide to correct hyperkalemia.

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

Rheumatology
JIA (Juvenile idiopathic arthritis / formerly JRA)
faint rash, joint pain, daily spiking fevers with waxing/waning body pain, joint swelling, morning
stiffness usually lasting > 30 minutes
CBC: thrombocytosis, leukocytosis, anemia
RF+: more like adult disease (50% progress to adult RA); RF-: better prognosis
Categories:
Stills disease (systemic-onset JIA): arthritis with visceral involvement (hepatosplenomegaly,
serositis, lymphadenopathy)
Pauci (or oligo) articular JIA: JIA with 1-4 joints involved

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 doesnt require more than supportive treatment, resolves
usually within 4 mo although sx may last for 12 wks. Use systemic corticosteroids if severe GI/renal sx,
may even need to step up to cyclophosphamide if really bad.
Juvenile dermatomyositis; age 5-10y, girls > boys with proximal mm weakness (cant climb stairs, lift hands
over heads), malaise, fatigue, wt loss, intermittent fevers, heliotrope rash (purple around eyes), gottron papules
(scaly erythematous patches on extensor MCP/interphalangeal joints of fingers, elbows, knees).
Elevated serum CPK!
Disease happening in small blood vessels (humorally mediated with immune complexes, C activation,
CD4+ lymphocyte infiltration --> capillary, mm injury)
Give corticosteroids (oral pred or pulse methylpred)
DDx: Polymyositis less common in children - in polymyositis, see CD8 lymphs attacking muscles directly

67

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)
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 (wont work!)
Get flu vaccine when on prolonged aspirin therapy (later, after IVIG out of system) to help avoid
Reye syndrome when taking aspirin
Coronary aneurysm development more common if: male, fever > 10 days, age < 12 mo, low serum
albumin / Hb, early cardiac findings, thrombocytopenia
SLE in mom can cause neonatal heart block
Classic findings for rheum conditions
Dry eyes / mouth

Sjogren

Gottron papules

Juvenile DM

Oral / nasal ulcers

SLE, Wegener, Bechet

Nailfold capillary
changes

SLE, DM, scleroderma,

Kawasaki

Chest pain / pleuritis

SLE, systemic JIA

Purpura

HSP, small/medium
vessel 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

68

Anti-Ro, Anti-La

Sjogren syndrome

Adolescence
Timing of puberty
Males: testicular enlargement, then pubic hair, penis lengthening, then max height velocity
Females: thelarche, pubarche, maximal height velocity, then menarche
Delayed puberty: no signs by age 13 in girls or no menacrhe 3 yrs after start of puberty, age 14 in boys
Think gonadal failure, chromosomal abnormalities (Turner/Klinefelter), hypopituitarism, chronic
disease, malnutrition
Constitutional delay is #1 caues (90-95%) - with delayed bone age, slow growth, fhx.
Precocious puberty: signs earlier than age 7 in girls, age 9 in boys (may be earlier for AA girls)
Sex hormones generally appropriate for stage of puberty, but not for chronological age: estradiol in F, T in
M
LH/FSH vary, so single sample not good enough.
Use GnRH stimulation test instead (GnRH, measure LH/FSH response)

Central = gonadotrophin dependent.

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

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

tumors)
Bone age > chron age on radiographs.
Treat w/ non-pusatile GnRH analogs (leuprolie): keep epiphyses from closing, preserve final ht
Specific syndromes on ddx of precocious puberty
Remember, MIF inhibits the Mullerian ducts, testosterone induces the Wolffian ducts
McCune Albright syndrome:
Coast of Maine cafe-au-lait spots, precocious puberty, polyostotic fibrous dysplasia
(medullary tissue of bone replaced with fibrous tissue - weaken bone, cause deformity)
CAH: Increased androgens but not gonadotropins
Females: ambiguous genitalia (46,XX) with masculinization from androgens; ddx includes
exposure to maternal androgens, congenital vaginal absence. Both Wolffian & Muellerian ducts
Males: virilization (aggression, increased height/wt, pubic hair, muscles, oily skin, masculine
voice) , but with prepubertal testicular size. Remember male infants can have normal genitalia
but can be salt-wasters (FTT)
Get 17-hydroxyprogesterone if suspicious
Can treat with hydrocortisone (depresses adrenal production of androgens). Give hormones at
puberty, can use estrogen-containing PO meds in females, depot androgen injections in males.
Congenital androgen insensitivity syndrome:
46, XY with testes in abdomen but dont respond to androgens = externally 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-

69

wise but never menstruates or develops pubic hair, found to have a blind vaginal pouch on exam,
genotype ends up being 46, XY
Prader Willi - chr 15q, paternal deletion
hypotonia, FTT, hypogonadism early in life
hyperphagia, obesity, MR, bizarre behavior by 6 years; limited sexual function

Premature adrenarche: early activation of androgens (pubic/axillary hair, body odor)

usu. girls age 6-8; also if in boys < 9
Adrogens normal for pubertal stage but high for chronolgic age.
Premature thelarche: early breast development w/o growth change, pubic / ax hair
usually girls age 1-4, most common at 12-24m from transient estrogen bursts from prepubertal ovary.
In both of the above, normal growth rate & bone age are seen.
Tanner staging
Tanner

Breast development (F)

Genitals (M)

Pubic hair (M & F)

prepubertal

prepubertal

none

II

breast bud,
areola widens

testes, scrotum larger

scrotum reddens, changes texture

sparse, longer, lighter hair @

base of penis, along labia

III

elevation of breast +
areola

penis enlarges (length)

testes, scrotum grow more

darker, coarser, more curled

along pubic jxn

IV

areola projects above

breast contour

penis enlarges (thickness, glans develops)

testes, scrotum grow, darker scrotum

adult-type hair,
no spread to thighs

mature stage; smooth

contour & areola

adult

adult-type hair,
spread to thighs

Mittleschmerz - sudden onset of RLQ or LLQ pain with ovulation; can have mucouid vaginal discharge
On ddx of appendicitis!
Dysfunctional uterine bleeding:
Categorizations
Menorrhagia: excessive / prolonged bleeding with a regular menstrual cycle
Metrorrhagia: irregular bleeding between menstrual cycles
Menometrorrhagia: irregular uterine bleeding with excessive / prolonged flow
Tx:
Hb > 12: Iron & follow-up
Hb 9-12: Treat with a few cycles of OCP and iron
Hb < 9: IV estrogen & may need hospitalization, transfusion
Ectopic pregnancy: abdominal pain, vaginal bleeding, amenorrhea classic, but only in 50% cases

70

Substance Abuse
PCP intoxication
Phencyclidine, angel dust, horse tranq, happy leaf. piperidine like ketamine; originally anesthetic (NMDA
receptor blocker), long-acting (6h short-term effects, full effect can last several days, variable behavioral
changes, unpredictible), often with MJ
Dysarthria, nystagmus (vertical), belligerent, hyperacusis, ataxia, muscle rigidity, can cause sz / coma,
numbness, HTN / tachy
Treatment: treat HTN, can acidify urine to increase excretion, hospitalize in a quiet dark room. Gastric
lavage / charcoal can help. treat seizures as needed
Avoid restraints (more muscle breakdown), gastric lavage (emesis / aspiration), typical antipsychotics
(anticholinergic side effects make it worse). Benzos can delay excretion, so avoid those too.
Alcohol dependence:
Lab tests: elevated liver transaminases (particularly gamma-glutamyl transferase, GGT) and macrocytic
anemia
Alcohol acute use:
manage with respiratory support, gastric lavage / charcoal, thiamine / glucose as needed
Alcohol withdrawal:
Typical stages: tremulousness / jitteriness (6-8h), psychosis / perceptual sx (8-12h), seizures (12-24h),
DTs (24-72h, up to 1 wk)
DTs: disorientation, tremors, elevated vital signs, fluctuating consciousness post-stoppage, can be fatal!
DDx vs thyrotoxicosis, pheochromocytoma, inappropriate use of beta-agonist inhalers /
sympathomimetics.
Use long-acting benzos (chlordiazepoxide, diazepam). Oxazepam, lorazepam are good if liver function
may be compromised
Cocaine intoxication:
Behavioral: euphoria, bluted feelings, hypervigilance, hypersensitivity, anxiety, poor judgment, anorexia
Physical: dilated pupils, autonomic instability, chills/sweating, n/v, PMA/R, chest pain / arrhythmias,
confusion / sz / stupor / coma, wt loss
Cocaine withdrawal: can last 2-4 days or longer, "crash" (dysphoria, irritibility, anxiety, hypersomnia, depressive
sx incl SI).
Intox - withdrawal during lifetime of addiction can mimic bipolar disorder in the history!
Amphetamine intoxication: causes adrenergic hyperactivity (tachy, pupils dilated, hypertensive, perspiring, chills,
nausea / vomiting, anorexia / wt loss, mm weakness, can have hallucinations, resp depression chest pain,
arrhythmias, confusion, sz, dyskinesia, dystonia, coma can result)
Meth gives you bad dental problems (meth mouth) + paranoia, hallucination / tics / aggression
Treat overdose with benzos / haloperidol, cooling blankets if needed, treat HTN / arrhythmias PRN
Amphetamine withdrawal: the "crash" (anxiety, tremors, lethargy, fatigue, nightmares, headache, extreme hunger)
Opioid intoxication: apathy, PMR, constricted pupils, drowsiness
Tx: cardiorespiratory support, gastric lavage / charcoal if ingested, naloxone if ODing
Opioid withdrawal: nausea / vomiting, muscle aches, fluids from all orifices, autonomic hyperactivity, fever, dilated
pupils, depressed / anxious mood, rarely life-threatening
Generally, longer-acting substances give less withdrawal

71

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
reaction times, tachycardia, orthostatic hypotension, injected conjunctiva, dry mouth.
Tx: can use benzos if severely agitated
Ecstasy (MDMA):
Acute use: sense of happiness, enhanced well being; agitation, confusion, shock can result. hyperthermia,
hypertension, tachycardia, tachypnea, dilated pupils, agitation, hyponatremia possible. Give activated
charcoal, benzos for agitation / HTN, FEN management, cooling blanket if needed
Hallucinogens (e.g. LSD)
Acute use: euphoria, increased alertness; nausea, anxiety, paranoia, hallucinations, coma. Restlessness,
labile affect, hyperthermia, tachycardia, HTN, flushing, pupil dilation, injected conjunctiva, hyperreflexia
Tx: talk down in calm environment; benzos, cooling blanket if needed, HTN treatment
Inhalants
Acute use: euphoria, impaired judgement; progresses to hallucinations, psychosis, sz, coma. Agitation /
stupor, sluured speech, nystamus / tearing, rhinorrhea, increased salivation too.
Tx: cardiorespiratory support as needed.

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

72

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.

73

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

74