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Cardiovascular
PDA: ductus usually closes within 10-15h and almost always by 2 days of birth
AV canal / endocardial cushion / AV septal defect: contiguous atrial, ventricular septal
defect.
large systolic pulmonary flow murmur + LLSB diastolic murmur heard; can have
wide split S2
Physiology
Diagnosis
Treatment
Prostaglandin
(open PDA), then
create ASD
(atrial
septostomy) via
cath for palliation;
definitive surgery
in first 2 wks
Tetralogy of
Fallot
Surgery
Valvuloplasty
via cardiac cath.
1). Pulmonary
stenosis
2). Overriding aorta
3). VSD
4). RVH.
A/w 22q11 (DiGeorge)
Pulmonary
valve
Stenosed pulmonary
valve = outflow
stenosis
obstruction.
Tricuspid
atresia
Prostaglandin,
then surgical
correction
(modified BT,
then hemiFontan,
then Fontan)
Ebstein
anomaly
Regurgitant tricuspid
valve displaced
towards bottom of R
heart (small RV
results). Obstructs
ventricular outflow
(large anterior leaflet
Prostaglandin,
then surgical
correction
TAPVR: Total
anomalous
pulmonary
venous
return
Anomalous pulmonary
veins enter systemic
veins (oxygenated
blood shunted back to
venous side!) Must
have ASD/PFO for
mixing
Surgery
(emergent if
obstruction,
within 1 mo of life
if not)
Hypoplastic
left heart
syndrome
Underdeveloped left
side of heart. Need
ASD/PDA: ASD to get
O2-rich blood from LA
to veins, where it can
go to body via PDA
Cardiomegaly, increased
pulmonary vascularity. See
poor R wave progression & RVH
on EKG.
Prostaglandin,
Palliation
(Norwood, Glenn,
Fontan staged
repair) /
transplant
Pulmonary
atresia with
intact
ventric.
septum (PAIVS)
Pulmonary valve
small or shut of, with
no VSD = no mixing!
Prostaglandin
Surgery
Truncus
Arteriosis
Surgery (close
VSD, separate
pulmonary
arteries, conduit
from RV to
pulmonary
arteries
Cardiac surgeries
Norwood procedure: connect subclavian to pulmonary artery (modified blaylocktaussig shunt) to get blood to lungs. Problem: expose lungs to high systemic pressures. In
hypoplastic L. heart syndrome, the RV is essentially pumping systemic circulation (PA to
aorta via maintained PDA), so you need another way to get blood to lungs - hence this
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
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
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
Coarctation of the aorta: think Turners syndrome; ductal dependent; start prostaglandins,
see diferential blood pressures & pulses, may require surgery
Aortic stenosis: in kids, often a/w bicuspid aortic valve which becomes stenotic. harsh
systolic ejection murmur best heard @ RUSB with ejection click preceding it; may have
thrill, may radiate to carotids. LVH on EKG. If critical, may be ductal dependent prostaglandin indicated. Otherwise, try balloon valvuloplasty
Pulmonic stenosis: if critical, may force foramen ovale open --> R to L shunt. ejection
click, then harsh systolic ejection murmur @ LUSB +/- thirll, RV heave; enlarged PA on CXR,
RVH on EKG. May need prostaglandins.
Rheumatic heart disease: most often acutely causes mitral regurgitation, later in life may
progress to mitral stenosis. Aortic valve is #2.
Kawasaki disease: can cause pericarditis, myocarditis, coronary arteritis, but coronary
aneurysms are the most worriesome thing (most in subacute phase, days 11-25, regress in
most patients, less risk if aspirin used). Then use low dose aspirin until the aneuryisms
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.
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.
Congenital long QT: think channelopathies. can lead to TdP (give Mg to treat!)
Jervell-Lange-Nielsen: long QT + sensorineural hearing loss
Romano-Ward: no sensorneural hearing loss (strictly cardiac; worse)
Hypertension in kids: more likely secondary than kids, although primary essential is
increasing. check for pheo, renal artery stenosis, neuroblastoma, etc.
Need 3x elevation > 95% adjusted for age, sex, height.
make sure cuf covers 75% of upper limb, right cuf side, take multiple extremities if
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, difuse cutaneous HSV (punched-out red
umbilicated vesicles)
Dx: lab studies not great; serum IgE may be helpful.
Tx: emollients, antipruritics (topical corticosteroids or antihistamiens), to control
inflammation, avoid drying soaps, use lubricants (e.g. eucerin, vasaline) after bathing.
Avoid topical fluorinated corticosteriods on face, genetalia, intertriginous area
(can depigment / thin the skin)
Tacrolimus, pimecrolimus: nonsteroidal immunomodulators for more refractory
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 Kasabach-Merritt phenomenon - basically sequester platelets, RBCs & get peripheral
thrombocytopenia, coagulopathy, microangiopathic hemolytic anemia.
can treat with corticosteroids, vincristine. Can lead to excessive bleeding during
surgery
Pustular melanosis: benign, self-limited, neonatal rash, blacks > whites, found at birth
Pustules that rupture within days and are then hyperpigmented for weeks; eventually
resolve
Sebaceous nevi: small, sharply-edged, head/neck of infants; yellow-orange in color,
elevated, hairless
Milia: fine, yellow-white 1-2mm lesions scattered over face, gingiva of neonates; cyst w/
keratinized stuf inside
Resolve spontaneously. Called Epsteins pearls on palate
Papular acrodermatitis of childhood (Giannoti-Crosti syndrome):
Asymptomatic erythematous papular eruption, kids 1-6 yrs after URI, EBV, varicella,
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).
Development
Gross motor
Fine motor
Language
Social
1 mo
Follow eyes to
midline only,
hands clenched
Alerts / startles to
sound; starts
vocalizing a bit
Regards parents
faces
Smiles
spontaneously
Responds to bell
2 mo
Follows object
180 degrees;
holds rattle
briefly
Coos, reciprocal
vocalization
Smiles socially,
laughs, squeals,
recognizes
parent
Orients to voice,
laughs, squeals
Initiates social
interaction
Other
Sleep
through
night (2-3
mo)
3 mo
4 mo
Rolling over
Head control with
no lag; lifts onto
elbows
Reaches with
both hands
together, bats at
objects, grabs &
retains
6 mo
Reaches with
one hand & can
btransfer handhand
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
Specific mama,
dada + 1-4 other
words
Imitates, comes
when called,
cooperates with
dressing
15 mo
Walks well
independently
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
2 yr
Stairs unassisted,
can kick / throw
ball overhand,
jumps with two feet
of floor
50 words total
2 word sentences
50% speech
intelligible to
stranger
Removes simple
clothes, parallel
play
3 yr
Tricycle, broad
Copies circle
250+ words
Knows age,
Introduce
juices in
cup, not
bottle
Potty
training (or
when child
shows
interest)
10
jumps
Copy square /
cross, catches
ball
3-8 word
sentences
75% speech
intelligible
gender; group
play, shares
Fully
understandable
language - can
tell a story 4
colors, can define
5 words, knows 3
adjectives
4 yr
5 yr
Draws person
with 6 body parts
names 4 colors,
plays cooperative
games,
understands
rules
6 yr
Rides bike
Writes name
Written letters,
numbers
Knows right vs
left, knows all
colors
Endocrinology
Diabetes
Criteria for DM:
Casual glucose > 200 with signs / sx
11
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 @
12
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
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
13
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 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
14
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
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.
15
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.
Results
Warfarin (Coumadin)
Ethanol
Isotretinoin
(Accutane)
Lithium
Penicillamine
Phenytoin (Dilantin)
Radioactive iodine
Diethylstilbestrol
Streptomycin
Deafness
Testosterone-like
drugs
Virilization of female
Tetracycline
Thalidomide
Trimethadione
Valproate
Spina bifida
Chromosomal disorders
Trisomy 21:
5th finger brachydactyly & clinodactyly, upslanting palpebral fissures, epicanthal folds,
redundant nuchal skin, single transverse palmar crease, Brushfield spots (white/gray
spots in periphery of iris), flat facial profile, small, rounded ears, hyperflexible joints, poor
Moro reflex, brachycephaly, wide 1st/2nd toe spacing, short stature. hypotonia & often
slower feeding noted early on.
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,
16
UE3
hCG
Associated conditions
low
low
high
Down Syndrome
low
low
low
n/a
high
n/a
17
Storage disorders
Disease
Deficient/ builds up
Features
TaySachs
B-hexosaminidase
A
(a GM2
gangliosidosis)
Sandhof
B-hexosaminidase
A&B (a GM2
gangliosidosis)
Niemann
Pick
Sphingomyelinase
Gaucher
B-glucosidase
Krabbe
galactocerebrosid
ase
Fabry
B-galactosidase
Hurler
a-iduronidase
Hunter
iduronate-2sulfatase
18
Metabolic disorders
When these kids get sick, give them glucose (they go crazy catabolic & all kinds of stuf builds
up--> big time high AG met acidosis, and they get in trouble fast).
Galactosemia
(a disorder of
carbohydrate
metabolism)
PKU (a
disorder of
amino acid
metabolism)
Homocystinur
no sx in infancy but look like Marfans.
ia (d/o of
Vascular thromboses --> childhood
amino acid
stroke, MI
metabolism)
OTC
Deficiency
(AA / urea
cycle disorder)
Deficiency in phenylalanine
hydroxylase (cant convert
phenylalanine to tyrosine).
Neonatal screened. Tx:
restrict phenylalanine
consumption
Cystathione synthetase
deficiency (cant convert met
to cys/ser). Dietary
management hard (low
protein, foul tasting). 50%
respond to high dose
pyridoxine
Gene
Comments
19
Achondroplasia
4p
FGFR3
Adult polycystic
kidney dz
16p
PKD1/PKD2
Hereditary
angioedema
11q
C1NH
Hereditary
spherocytosis
Marfan syndrome
15q
FBN1
Neurofibromatosis
2p,
17q,
22q
NF1/NF2
Protein C deficiency
2q
Multiple
genes
Hypercoagulable state
Tuberous sclerosis
9q,
12q,
16p
TSC1, TSC2,
TSC3, TSC4
von Willebrand
disease
12p
Multiple
genes
Autosomal recessive
Chr
Gene
Comments
Congenital adrenal
hyperplasia
6p
CYP21A2,
CYP11A1,
CYP17,
ACTHR
Cystic fibrosis
7q, 19q
CFTR
Galactosemia
disorder
9p
GALT
Carbohydrate metabolism
Gaucher disease
1q
GBA
Infantile polycystic
kidney
6p (or 16p
= PKD1,
TSC2)
PKD3
Phenylketonuria
12q
PAH
11p
HBB
20
autosplenectomy, etc.
Tay-Sachs disease
15q
HEXA
Wilson disease
13q
ATP7B
X-linked recessive
Comments
Bruton agammaglobulinemia
Color blindness
Duchenne muscular dystrophy
Glucose-6-phosphate
dehydrogenase
Hemophilias A and B
Lesch-Nyhan syndrome
Ornithine transcarbamylase
deficiency
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)
21
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
Toxicities:
Toxicity
Sx / Dx
Lead
22
Tx:
Education, environmental eval, etc.
Chelation if Pb > 45 (DMSA/succimer or CaEDTA).
Hospitalize & chelate if BLL > 70. Admit if symptomatic
Organophospha
te
Cyanide
Mercury elemental
Methyl
mercury
Inorganic
mercury
Arsenic
TCAs
Acetamin
o-phen
Anticholinergi
cs
CO
23
Ethylene
glycol
Methanol
Salicylate
s
Activated charcoal:
Good for enterohepatic circulation drugs (TCAs, pentobarb) and those with
prolonged absorption (e.g. sustained release theophylline) to clear out from gut
Administer during first few hours after ingestion if indicated.
Not good for alcohols, acids, ferrous sulfate, strong bases (drain cleaners, oven
cleaners), cyanide, lithium, potassium - not absorbed by particles on surface
Nutrients:
Nutrient
Deficiency
Excess
Vitamin A
Vitamin D
Hypercalcemia, azotemia,
poor growth, N/V/D, calcinosis
of a variety of tissues, including
kidney, heart, bronchi, stomach
Vitamin E
Unknown
Vitamin C
(ascorbic acid)
Thiamine (B1)
Unknown
24
Riboflavin (B2)
Unknown
Niacin
Pyridoxine
(B6)
Sensory neuropathy,
also fever & pain
Folate
Usually none
B12
Unknown
Pantothenic
acid
Unknown
Biotin
Unknown
Vitamin K
Hemorrhagic manifestations
Biliary Atresia: bile duts blocked, fibrotic --> no bile flow into bowel.
Kasai procedure (bowel loop forms duct to drain bile from liver) can be useful.
Poor bile flow (biliary atresia, liver failure) = poor ADEK absorption
Primary (familial) hypophosphatemia: #1 cause of nonnutritional rickets, X-linked
dominant dz
abnl phosphate reabsorption; abnl 25vitD to 1,25vitD conversion in prox tubules of kidney
abnormal
Low 1,25vitD, low=normal Ca, low phosphate, elevated alk-phos, hyperphosphaturia,
no hyperPTH
Smoother lower extremity bowing (Ca-dependent rickets = more angular), waddling gait,
no rachitic rosary, tetany, etc.
Renal osteodystrophy: low/nL serum ca, incr. serum phosphorus, incr. alk phos.
Hypophosphaturia --> hypocalcemia --> incr. PTH --> more bone turnover
also low production of 1,25vitD with kidney damage
DDx of rickets: Schmid metaphyseal dysplasia (aut-dom, short stature, bowing legs, waddling
gait)
25
26
Vitamin-D
resistant rickets
NL
Pho
s
Low
PTH
Other
NL
Pseudohypoparathyroidism
Low
High HIGH
Osteogenesis
Imperfecta
NL
NL
Hypoparathyrodi
sm
Low
High LOW
Medullary thryoid
Ca
NL
NL
NL
Intussusception:
(bilious) emesis + intermittent abdominal pain, bloody stools (currant jelly = late
finding), kid draws up knees in pain.
classically sausage-shaped / tubular mass on exam, often with lead point (lymphoma,
meckels diverticulum, etc) around ileocecal valve
get air contrast enema for dx / tx
Malrotation/volvulus: think about in neonates with bilious emesis 2/2 obstruction.
If prolonged, can have necrotic bowel - melena/hematochezia, peritonitis, acidosis,
sepsis
Malrotation: incomplete intestinal rotation in first trimester
Ligament of treitz - usually fixes duodenojejunal junction to L spine; here, ligament
on R side, small bit of mesentary can be axis for gut to turn around
Volvulus: mesentary twists around small intestine --> decreased perfusion, ischemia,
necrosis
Classic findings: corkscrew pattern of duodenum (barium going through twisted
portion, looks like corkscrew), or birds beak of 2nd/3rd duodenal portions. Get
upper GI series to evaluate.
Requires emergent surgical intervention after fluid status evaluated & fixed if
27
neded.
Signs, sx
Abdominal
migraines
Appendicitis
Bacterial
enterocolitis
Cholecystitis
RUQ pain
Diabetes mellitus
HSP
Hepatitis
Incarcerated
inguinal hernia
Intussuception
Malrotation with
volvulus
Nephrolithiasis
28
Pancreatitis
PNA
SBO
Strep pharyngitis
Testicular torsion
Urinary tract
infection
Tracheo-esophageal fistula:
most commonly involves esophageal atresia (blind pouch) with esophagus coming of of
trachea proximal to karina. Associated with VATER (Vertebral abnormalities, Anal
abnormalities, T-E fistula, Radial/Renal anomalies); DiGeorge syndrome (VSD, great vessel
problems, esophageal atresia, bifid uvula, etc).
Dx: Polyhydramnios in utero. After birth: failure to pass orogastric tube in a
newborn whos choking; see coiled tube on film. At risk for aspiration (suction constantly
while awaiting surgery)
H-type TEF can present later (several months of age with recurrent aspiration
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).
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 /
29
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 & stuf
adhesions between glans / prepuce lyse within first 3 years of life in 90%, glans
exposed
Can see cellular debris (white) under foreskin, not abnormal, no tx needed
Phismosis = inability to retract foreskin. Physiologic in first years of life. After age 3,
pathologic
Paraphismosis = painful, foreskin gets retracted, trapped behind glans --> edema,
venous congestion --> 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.
30
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 in SE asia because of more cis mutations.
31
Dx with Hb electrophoresis.
32
deplete NADPH and cant regenerate reduced glutathione / protect RBC from
oxidative stress. AA / Mediterraneans.
Dx: deficient NADPH formation on G6PD assay, but wait til acute
hemolysis is done (most of deficient cells have been destroyed --> can give
false-normal result!)
33
pancytopenia
A/w pigmentary changes (cafe-au-lait), skeletal (microcephaly) / renal /
developmental abnormalities, absent thumbs, horseshoe / absent kidney
Defect in DNA repair --> too many breaks / recombinations. Increased risk of
leukemias
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
34
35
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
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.
36
Immunology
Immunodeficiencies
Chronic
granulomatous
dz
Poor superoxide
generation
Leukocyte
adhesion
deficiency
Disorder of
leukocyte
chemotaxis,
adherence
SCID
Aut-rec or Xlinked
Both humoral &
cellular
immunodec.
DiGeorge
22q11
microdeletion
Decreased Tcell production
Wiskott
Aldrich
poor Ab
response to
capsular
polysaccharides,
T-cell
dysfunction
(combined
B&T)
XLA: X-linked
agammaglobuline
mia (Brutons)
Primary B-cell
Presents after 3 months of age (moms Ab go away)
deficiency (all 3 Recurrent / simultaneous bouts of otitis media,
classes of Ab
PNA, diarrhea, sinusitis at diferent sites but not
decreased)
fungal or viral infections
Common
Variable
immunodeficien
cy
Humoral / Bcell
Selective IgA
deficiency
Humoral
37
disorder of
phagocytic
chemotaxis
Ataxiatelangiectasia
variable
humoral & CMI
defects
C5-C8 (terminal
C) is classic
form
N. meningitidis infections!
Also higher risk of rheumatologic disease
Complement
deficiency
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
Type IV / V
hypersensitivit
y
(not
immediate)
Morbilliform
maculopapular, coalescing
rash, especially truncal /
centripetal
Urticarial
Immediate erythema,
vasodilation, raised
lesions with central
clearing & serpiginous
border, dermographia,
transient / evanescent
(gone in 30m), move
around
Type I
hypersensitivit
y (mast cells,
histamine
release)
Type III
hypersensitivit
y (antibodies!)
Can also be
from HSV
Antibody
independent
Lymphocytic
Erythema
multiforme
SJS/TEN
DRESS
38
mediators
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,
39
diaphragm. Patient with RLQ and RUQ pain (over gallbladder) - PID + liver
problems
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 FTAABS
Stage 1: primary syphilis. See chancre (well demarcated, firm, painless ulcer with
indurated base). Heals spontaneously within 3-6 wks (may not seek medical attn)
Stage 2: secondary syphilis (1/3 untreated pts). dissemination --> erythematous
rash on palms / soles & condyloma lata (wart like lesions on genitals)
Stage 3: tertiary syphilis: gummas (granulmoatous lesions) in skin, bone, heart, CNS
Tabes dorsalis & general paresis can occur, as can aortic aneurysm of asc.
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 = difuse EEG
changes, often serious neuro sequelae (majority), 30% mortality.
More likely with primary maternal HSV infection; most often HSV-2.
Get CSF HSV PCR & treat with IV acyclovir.
If mom has hx genital herpes, and if prodromal sx or herpetic lesions present at
labor, do a C-section
If a neonate has rash c/w herpes, hospitalize! (even if in diaper area)
Vaginal infections:
Trichomoniasis (T. vaginalis) - protozoa - malodorous frothy gray dsicharge, vaginal
dyscomfort. See trichomonads on wet prep. Tx with metronidazole BID x 7 d along
with sex partners
Bacterial vaginosis (Gardnerella vaginalis, others). Thin, white, foul-smelling
discharge that emits fishy odor when mixed with KOH (whif test). Sexually active
40
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.
41
Congenital Infections: TORCH (Toxo, Other - VZV / syphilis, Rubella, Cytomegalovirus, HSV)
Features
Treatment
Comments
CMV
Most common if
primary CMV infection
in 1st trimester. (In
reactivation, maternal
IgG crosses placenta /
protects baby)
Toxo
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
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
Acyclovir
VZV
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
Also HIV: remember to get PCR, not relying on ab tests in kids who still have moms IgG!.
GBS:
Early: think PNA (sepsis too)
42
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
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.
43
44
45
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 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
46
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
A few months - 5
yrs
> 5 yrs
ICU / intubated
Chronic lung dz
Other clues:
47
Treament basics:
Outpatient: usually high dose amox or augmentin.
Can use azithromycin if walking PNA (mycoplasma, c. pneumo) suspected
Give azithromycin for C. trachomatis PNA in infants
Hospitalized: use IV abx
< 28 days: amp & gent to cover GBS, etc. These kids get hospitalized (r/o sepsis)
1 mo-3mo: ceftriaxone +/- macrolide
4 mo-4yrs: ceftriaxone + clinda (s. pneumo, ?MRSA)
5-15yrs: macrolide +/- ceftriaxone +/- clinda (atypicals, s. pneumo, ?mrsa)
Amp/sulbactam, clinda, ceftriaxone, azithromycin, vanc may be needed.
S. aureus PNA can cause tension PTX (via toxin --> rupture of alveoli).
Mostly associated with empyema though - which you cant drain (rx with vanc!)
Can also cause pleural efusion
Pneumococcal PNA: often with sudden onset of fever, cough, chest pain
Can fail outpatient therapy if amox (need high dose PCN, cefuroxime, amox/clav, or
even vanc!)
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.
48
Meningitis
Organisms by age of patient:
< 1 mo
Seeding from mom: GBS, E. coli, GNRs, HSV, Listeria. Also strep. pneumo
1-2 mo
2mo-6y
>6
PMNs
Protein
Glucose
Bacterial
> 1,000
> 75%
Very high
Very low
Viral
< 500
Normal / high
Normal
Lyme
< 100
Normal / high
Normal
Gastroenteritis (bacterial)
note: enteritis = small bowel, colitis = large bowel
Salmonella: aerobic GNR, motile, no lactose fermenting, more common in warmer
months
gastroenteritis, meningitis, osteomyelitis, bacteremia = non-typhoidal
presentation
49
peripheral white count often normal but with big time left shift
(bands > polys)
Can give abx for Shigella (self-limited but decreases disease course, organism
shedding)
Camyplobacter
E. coli (EHEC: can cause bloody diarrhea but often with no fever; EIEC = no blood)
Culture on MacConkey sorbitol to diagnose O157:H7
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
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)
Ascariasis
Ascaris
lumbricoides
Source
Signs/sx
Dx
Tx
Fecal-oral
Most asx.
Hemoptysis, pulm
Stool: see
eggs,
Albendazole,
mebendazole,
50
infiltrates, abd
pain, distension,
obstruction
occasionally
adult worms in
stool or
coughed up
pyrantel pamoate,
piperazine to clear
obstruction
Ovoid eggs in
stool
Mebendazole,
albendazole,
pyrantel pamoate,
also iron
supplement
Hookworms
Ancyclosto
ma
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
Strongyloid
es
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
Strongyloid
s
Visceral /
ocular larva
migrans
Toxocara
spp
Whipworms
Trichuris
trichiuria
Trichinellosi
s
Trichinella
spiralis
Egg ingestion
(soil
contaminated
with dog/cat
feces) - kid
eating dirt!
Clinical pres,
serologic
testing,
microscopy of
tissue
Visceral: self
limited. Ocular:
diethylcarbamazi
ne, albendazole,
mebendazole (but
all drugs can cause
inflammatory
rxn!)
Egg ingestion
Proctitis, bloody
diarrhea, abd pain,
rectal prolapse
Lemon-shaped
eggs in stool
Mebendazole /
albendazole
uncooked
pork, other
raw meat
Eosinophilia
on labs.
Organisms can
become encysted,
stay viable for
years in muscle
51
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
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 &
52
watchful waiting
Neonatology
APGAR:
Score
Appearance
Blue, pale
Acrocyanosis
Completely pink
Pulse
Absent
<100 bpm
>100 bpm
Grimace
(reflex irritability to nose
suction)
No response
Grimace
Cough / sneeze
Activity
Limp
Some flexion of
extremities
Active motion
Respiratory efort
Absent, irregular
Slow, crying
Good
53
54
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 stuf
Apt test: helps distinguish ingested maternal blood from babys blood in neonate with
bloody stool
(fetal hemoglobin is alkali resistant)
Subgaleal hematoma: Bleed into subaponeurotic space; crosses suture lines, expands
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.
55
Propranolol is bad for baby during delivery if mom takes it - baby cant respond to
bradycardia; a/w brady episodes, also apnea / failure to develop tachycardia during an
asphyxiation in delivery
Labs at birth:
SGA infants can have decreased uteroplacental blood flow, placental infarction - results
in fetal nutritional deprivation, intermittent fetal hypoxemia --> decrease in
glycogen storage & polycythemia
Glc: 30-40 is normal in full-term infant in 1st postnatal day
Ca: decline during first 2-3 postnatal days; only abnormally low below 7.5-8
mg/dL
HyperMg: common when mom got MgSO4; asx or floppiness
Hct > 65% = polycythemia; get increased blood viscosity
56
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)
57
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! (diferent GCS for kids)
Neural tube defects: no folic acid, valproic acid / carbamazepine exposure contribute.
elevated AFP in mom
Spina bifida: NTD with incomplete fusion of vertebral arches
Myelomeningocoele: contains neural & meningeal tissues. Leads to hydrocephalus
(get VP shunt)
Meningocoele: just meninges
Spina bifida occulta: bony defect in vertebrae with no herniation of spinal contents.
Chiari II malformation (lower brainstem, cerebellum pushed back) - often need cervical
decompression to prevent cyanotic episodes, apnea, stridor, dysphagia, etc.
Get a C-section for kids with NTD for better management.
Hydrocephalus: bulging fontanelle; poor feeding, irritable / lethargic, downward deviation of
eyes (setting sun sign), spasticity, etc. can indicate increased ICP.
Cushing triad (hypertension, bradycardia, slow / irreg respirations) is a late finding.
Usually get VP shunt (or 3rd ventriculostomy if acqueductal obstruction) to open floor of
3rd vent.
Shunt infections: most often S. epidermidis.
58
Pseudotumor cerebri: benign but important cause of H/A, often overweight females
?from impaired CSF resorption. See papilledema but normal CT
LP: increased opening pressure; serial LPs resolve headache
Can also use acetazolamide / furosemide if protracted cases.
CNS tumors:
Infratentorial:
Tumor
Age
@
onset
Manifestations
5 yr
surv
Comments
Cerebellar
Astrocytoma
5-8
90%
Medulloblasto
ma
3-5
Obstructive hydrocephalus;
ataxia;
CSF mets
50%
Ependymoma
2-6
Obstructive hydrocephalus;
rarely seeds CSF
50%
25-50% are
supratentorial
5-8
<10
%
Brainstem
( e.g. pontine)
glioma
Supratentorial
Tumor
Age
@
onse
t
Manifestations
5 yr
surv
Comments
Cerebral
astrocytoma
5-10
1050%
Craniopharyngio
ma
7-12
Bitemporal hemianopsia,
endocrine abnormalities
7090%
Optic glioma
<2
75%
59
Epilepsy Syndromes
Epilepsy
Syndrome
Onset
Types
LennoxGastaut
Childhood (1-8y)
Benign
rolandic
epilepsy
Other
findings
EEG
Treatment
Tons of
Mental
diferent kinds retardation,
bad prognosis
VPA,
lamotrigine,
felbamate
Childhood (510y)
Simple partial
(mouth, face),
GTC
Nocturnal
preponderanc
e, usually
remits
Centrotempor
al spikes
Carbamazepin
e or no
treatment
Absence
epilepsy
Absence, GTC
Hypervent =
trigger
3 Hz spike &
wave
Ethosuxamide
, VPA
Juvenile
myoclonic
epilepsy
Adolescence,
young
adulthood
Myoclonic,
absence, GTC
Early morning
preponderanc
e
4-6 Hz
polyspike &
wave
VPA,
lamotrigine
60
Acute infantile hemiplegia: acute onset of a hemisyndrome with eyes looking away from
paralyzed side
Thromboembolic occlusion of middle cerebral artery or major branches (basically
stroke / TIA)
Breath holding spells: can be pallid or cyanotic; sudden pain / upset --> cry --> color change
--> child holding breath in exhalation; can lose conciousness briefly and can have stifening /
transient clonic movements.
Cerebral palsy
Etiology: problably most from antenatal insults (less common perinatal, pregnancy,
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
WerdnigHofman
Friedrichs
ataxia
Inheritan
ce
Genes
Presentation
Pathology
Aut-dom
Chromosome 4
(CAG repeats in
huntingtin)
Chorea, depression /
behavioral changes,
dementia
Atrophy of caudate
( GABAergic
neurons)
Degeneration of
anterior horns
(LMNs only)
Dorsal columns /
lateral CST /
Aut-rec
Aut-rec
Frataxin gene,
GAA repeats,
61
dysarthria / DM /
cardiomyopathy /
kyphoscoliosis
Chr 9
spinocerebellar /
dorsal root
ganglia
(hyporeflexic)
Episodic Ataxia
Brief episodes of
ataxia / nausea /
vertigo
Spinocerebella
r ataxia (SCA)
Various, mostly
CAG repeats
Progressive gait /
dysarthria in early
adult life other
neuro abnormalities,
mild / moderate
cognitive decline late
Lysosomal
storage
(arylsulfatase
A deficiency)
progresive ataxia,
Demyelination (
weakness, peripheral sulfatides -->
neuropathy; macular myelin sheath)
lesions (gray)
Defective
production of
myelin sheath
proteins
Adolescence;
progressive,
symmetric distal
muscular atrophy
(legs / feet hands),
hammer toes / pes
cavus
Auto-dom
Metachromic
Aut-rec
leukodystrophy
Charcot-MarieTooth
(Hereditary
motor & sensory
neuropathy)
CMT-2 is axonal
motor, others
demyelinating
Spontaneous,
chr 3
Tuberous
sclerosis
Aut-dom with
variable
penetrance
NF type 1 (von
Recklinghausens
dz)
Aut-dom, chr
17
NF type 2
Chr 22
Von-Hippel-
Aut-dom, chr 3
62
Lindau dz
Post-infectious weakness
Disease
Etiology
Features
ADEM
Post-infective
(chickenpox, measles) or
post-vaccine (rabies,
smallpox)
GBS: AIDP
Post-campylobacter or
herpesvirus (CMV / EBV)
CIDP
MillerFischer
Hearing loss:
63
Oncology
Hematologic malignancies
Leukemias in general:
Sx: lethargy, malaise, anorexia days / wks before dx; bone pain / arthralgias
(leukemia in marrow cavity), pallor (normocrhomic, normocytic anemia with low retic
count), ecchymoses / petechiae (thrombocytopenia), hepatosplenomegaly / cervical
LAD at Dx.
Get CBC with dif & 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)
64
Lymphomas
Non-Hodgkin:
T-cell: a/w mediastinal mass, can have SVC syndrome as a result
lymphoblastic (pre-B), anaplastic types
B-cell: often involves bone, isolated LNs, skin
lymphoblastic (pre-B)
Burkitt lymphoma: rapid growth, can have tumor lysis syndrome even before
chemo!
C-myc translocation
Hodgkin: childhood, young adult, older adult form; biomodal epidemiology (15-30, then >50)
Painless, rubbery cervical lymphadenopathy in 80%, also have mediastinal LAD
B symptoms: unexplained fever, drenching night sweats, unintentional wt loss (>
10%/6mo)
Diagnosis:
Get a chest radiograph to look for mediastinal mass; will guide how bx done
(anesthesia? need to protect airway if impinged upon?)
Biopsy next: look for Reed-sternberg cells. Fewer is better for prognosis
(lymphocyte predominance has best prognosis).
Staging: depends on where involvement is (single LN, more, both sides of diaphragm,
disseminated, B-sx?)
Treatment: can be chemo combos +/- XRT depending on stage, other factors.
Chemo drugs and their side efects
Alkylating agents / cross linkers
Cyclophosphamide - hemorrhagic cystitis, SIADH, cardiac toxicity, infertility
Iphosphamide - hemorrhagic cystitis, also renal / ototoxicity, infertility
65
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
66
involvement), IV = distant mets, IVS = age < 1 + mets, with primary tumor that would
otherwise be I or II. I, II, IVS have better prog than III/IV. Best prog for infants < 1. N-myc
has worse prognosis. Tx with chemo, surgery, radiation, biotherapy, etc. as needed.
Wilms tumor: #1 renal tumor in kids, neoplastic embryonal renal cells from metanephros
proliferate
11p13 (WT1) and 11p15 (WT2) are most common genes.
most unilateral; 7% bilateral; most < 5 years old @ dx
Associations: sporadic aniridia, hemihypertrophy, cryptorchidism, hypospadius,
other GU abnormalities. Beckwith-Wiedemann (hemihypertrophy, macroglossia,
omcephalocele, GU 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 diferent treatment
Soft tissue sarcomas:
Rhabdomyosarcomas = 50%. Associated with NF, Li-Fraumeni syndromes. #1 STS in
kids < 10 yrs)
t(2;13), t(1;13) translocations.
Can be embryonal or alveolar subtype. 35% in head/neck, 22$ in GU sites, 20%
in extremities.
Non-rhabdomyosarcomas: heterogenous group. fibrosarcoma is #1 STS in kids > 10 yrs.
Include nerve sheath tumors (malignant, congenital with NF-1) but also fibrous
histiocytomas, leiomyosarcomas (after radiation for prior tumor)
Bone Tumors
Tumor
Patient / presentation
Ewing
Sarcom
a
Mostly adolescents,
M>F (1.5x), very rare in
AA. Pain, localized
swelling at site of tumor
+ fever, wt loss,
fatigue if mets
Location
Dx
Comments
chr 11-22
translocation. Tx:
rad/surgery +
chemo (almost all
pts have
microscopic mets).
if no mets, 5yr >
66%
67
Osteosarcom
a
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)
Clinical mets in
20%; msotly lungs;
almost all others
have microscopic
mets. Tx: Surgical
removal, resistant
to radiation =
neoadjuvant +
adjuvant chemo.
Long-term relapsefree survival >70%
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, coveruncover 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 afected eye.
Tx > 8 y/o is unlikely to be successful
Leukocoria: DDx:
retinoblastoma (life threatening; see onc section)
cataracts (most common cause, 1:250 newborns, congenital or acquired - infection, etc.
Tx with surgical removal; remove before 2-3 mo age to prevent irreversible amblyopia)
retinopathy of prematurity (retinal vascular disease, O2 exposure, VLBW preemies. Tx:
many regress spontaneously; lasar ablation of retina or cryotherapy can reduce
progression to retinal detachment)
Also congenital glaucoma, oxular toxocariasis (parasitic, often acquired)
Nasolacrimal duct obstruction: causes chronic overflow tearing in absence of
conjunctivitis in 25% neonates.
Failure of distal membranous end of nasolacrimal duct to open.
If mucopurulent discharge, tenderness of lower lib, think dacrocystitis (superimposed
infection); use warm compress, nasolacrimal massage, occasionally 1st gen
68
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).
Onse
t
Chemical
N.
gonnor.
C. trach
Features
Complications
Dx
Treatment
24h
bilat, serous
discharge,
conjunctival
hyperemia
Self-limited
Exclude other
causes
None
2-4d
bilat, prurulent
discharge, eyelid
edema, chemosis
sepsis,
meningitis,
arthritis, corneal
ulceration,
blindness
conjunctival
cx (chocolate
or ThayerMartin)
Topical
erythromyci
n, IV
cefotaxime,
treat parents
410d
unilat or bilat
mucopurulent
discharge,
conjunictival
hyperemia
conjunictival
Chlamydial cx
Oral +
topical
erythromyci
n*, treat
parents
corneal scarring,
pneumonia
69
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
70
casting if older
Foot deformities:
Flexible = more benign (if you can mold it with hand, minimal intervention)
Metatarsus adductus (isolated in-toing of forefoot) - benign, from intrauterine
positioning, ankle joint range is unrestricted (restricted in clubfoot). If inflexible, may need
serial bracing / casting @ 6-12m
Talipes equinovarus (clubfoot) - rare, debilitating. medial rotation of tibia, fixed
plantar flexion at ankle, inversion of heel, metatarsus adductus. cant dosiflex;
foot more deformed; limp + ulceration + calluses. Need early intervention before walking!
(serial casting, surgical repair if failed)
Causes of limp
Trauma is #1 at any age. Otherwise, by age (yrs)
1-3: infection, inflammation, paralytic syndromes
3-10: L-C-P, toxic synovitis, JIA
Pubertal: SCFE
Legg-Calve-Perthes: avascular necrosis of femoral head, etiology unknown. Mostly
males / younger kids (4-8 y/o) with painless, mildly painful limp developing insidiously,
often referred to knee / thigh. Limited ROM on abduction, flexion, internal rotation.
Radiographs: initially normal, then epiphyseal radiolucency.
Treat by contain femoral head in acetabulum, usually ischemic bone is resorbed
then reossification over 2-5 yrs. Often just observed if younger; brace/cast/surg if
older. Incr. arthritis later in life
SCFE: prox femoral growth prate separates; femur head slips of & rotates into
inferior/posterior position
Think overweight pubertal kids (esp males). 25% become bilateral. No relation
to trauma.
Presentation: limp, pain (hip/groin or referred to knee). Limb shortening, limited
internal rotation and flexion on exam. Get radiographs in frog-leg lateral
position to see displacement. Tx: pin fixation acutely; chronic may require
osteotomy
Osgood-Schlatter: pain, swelling, tenderness over tibial tuberosity.
From repetitive stress to distal insertion of patellar tendon on proximal tibia
Think adolescent growth spurt (10-15y)
Pain worse with running, jumping, kneeling, squatting but better with rest.
Tx with activity modification, stretching before, rest/ice after activity; casting for up to 6
wks if severe; low long-term morbidity
Blount disease: bowlegs (genu varum) that progress & worsen, can be unilateral
abnormality in medial aspect of proximal tibial epiphysis
Physiologic genu varum should straighten by 2 years old
71
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
Football
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Baseketball
Running
Ballet
Wrestling
Skiing
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)
73
Neonates
Cefotaxime
hip
S. aureus #1
also Kingella kingae, S. pneumo
Ceftriaxone
Older kids
knee
Transient (toxic) synovitis of the hip: frequent cause of hip pain, stifness in children.
?infectious, often after viral illness.
ROM limited - present in unilateral frogleg position, have hip efusion and pain on
internal / external rotation but child is afebrile and bears weight, ESR < 40, low
CRP, WBC < 12k (vs septic arthritis)
Reactive arthritis: think chlamydia, also after enteric bacteria (yersinia, salmonella,
campylobacter)
happens weeks afterwards (kid who has arthritis who had diarrhea wks ago!)
Also on ddx of arthritis: leukemia (wt loss, appetite decreasing, nosebleeds from
thrombocytopenia, bone pain)
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
74
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.
Obstructive sleep apnea: daytime somnelence, poor growth, behavioral problems
75
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.
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).
76
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 difuse alveolar hemorrhage; idiopathic or
with bleeding disorder; see hemosidin-laden macrophages (siderophages) in bronch
washings. An example of an ILD
Consider in kids with fever, resp distress, CXR findings that look like PNA - but findings
clear rapidly, kids have lots of recurrent PNA and signs like clubbing that point to a
chronic process.
Also see microcytic hypochromic anemia, low serum Fe, occult blood in stool
(swallowed pulmonary secretions). Get bronchoalveolar lavage.
Subset have hypersensitivity to cows milk (Heiner syndrome) & improve of of milk
Apnea of infancy: any cessation of breathing that lasts for 20 seconds or more, or
involves color changes (cyanosis or pallor), hypotonia, decreased responsiveness, bradycardia.
treat underlying disorder (infection, neurologic, respiratory, cardiac, GERD, abuse).
ALTE if parents believe could have been fatal
management: treat underlying disorder. Can put on home monitor which will sound
alarm for apnea, bradycardia, but dont reduce SIDS likelihood (since apnea does not
raise SIDS risk).
Renal
Glomerular disease
Nephritic syndromes: think red cell casts, edema, mild HTN, hematuria, etc. Can use Cachannel blockers for HTN
Classic presentation
Lab features
Notes
77
APSGN
IgA
nephropathy
Recurrent painless
hematuria, usually after
URI
HSP
Common cause of
nephritis, but mostly
younger kids 4-5
Lupus
nephritis
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
No progression to
chronic renal failure
Lab features
Notes
Minimal change
Normal light
microscopy;
podocyte foot
process efacement
on EM
#1 cause by far in
kids
Responds to steroids
FSGS
IC deposits in
subendothelial space
78
mostly adults
79
Rheumatology
JIA (Juvenile idiopathic arthritis / formerly JRA)
faint rash, joint pain, daily spiking fevers with waxing/waning body pain, joint
swelling, morning stifness usually lasting > 30 minutes
CBC: thrombocytosis, leukocytosis, anemia
RF+: more like adult disease (50% progress to adult RA); RF-: better prognosis
Categories:
Stills disease (systemic-onset JIA): arthritis with visceral involvement
80
81
Sjogren
Gottron papules
Juvenile DM
Nailfold capillary
changes
Chest pain /
pleuritis
Purpura
HSP, small/medium
vessel vasculitis
Arthritis
JIA, SLE
Malar rash
SLE, dermatomyositis
Muscle weakness
Juvenile
dermatomyositis
Raynaud
phenomenon
SLE, scleroderma
Skin tightening
Scleroderma
Systemic RA
Sterile pyuria
Kawasaki
ANA
SLE
Rheumatoid factor
Low C3/C4
SLE
Elevated CPK
juvenile dermatomyositis
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)
82
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)
83
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
Tanne
r
Breast development
(F)
Genitals (M)
prepubertal
prepubertal
none
II
breast bud,
areola widens
III
elevation of breast
+ areola
IV
areola projects
above breast
contour
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
Substance Abuse
PCP intoxication
Phencyclidine, angel dust, horse tranq, happy leaf. piperidine like ketamine; originally
anesthetic (NMDA receptor blocker), long-acting (6h short-term efects, full efect can
84
Alcohol dependence:
Lab tests: elevated liver transaminases (particularly gamma-glutamyl transferase, GGT)
and macrocytic anemia
Alcohol acute use:
manage with respiratory support, gastric lavage / charcoal, thiamine / glucose as needed
Alcohol withdrawal:
Typical stages: tremulousness / jitteriness (6-8h), psychosis / perceptual sx (8-12h),
seizures (12-24h), DTs (24-72h, up to 1 wk)
DTs: disorientation, tremors, elevated vital signs, fluctuating consciousness poststoppage, can be fatal!
DDx vs thyrotoxicosis, pheochromocytoma, inappropriate use of beta-agonist inhalers /
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
85
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 afect, 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
86
Rewarm directly by skin-skin contact (not a fire, not with friction). Give tetanus ppx!
Hypothermia: cold weather exposure; core temp drops --> tired, uncoordinated,
lethargic, apathetic, mentally confused, irritable, bradycardic
Teeth: see mandibular before maxillary teeth and incisors first, work way back to molars.
Girls before boys.
Child Abuse
Force feeding -> transect the lingual frenulum
Pancreatitis in an infant is abuse until proven otherwise.
Retinal hemorrhage: abuse is #1,2,3 in ddx. 30% have @ 24h of birth, but most resolve
in several days.
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88