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217 Cards in this Set
- Front
- Back
- 3rd side (hint)
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baby has resp distress when they stop crying
- pink when crying |
choanal atresia
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dx: pass feding tube thru nostril, ID mist on cold metal
txt: endotrach tube |
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RF for SIDS
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prone
sleeping on soft surfaces young mom premie smoking overheat no prenatal care low birth wt M>F |
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Egg hypersensitivity
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dont give: yellow fever, influenza
MMR ok |
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1st sign of puberty in males
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testicular enlargment @ 11-12 yo
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nursemaid elbow
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fall while holding adult hand
s/s: arm close to body, elbow flexed, forearm pronated txt: radial head P while supinating arm |
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VSD
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LLSB holosystolic murmur ( have high pulm resistance)
- txt: most close spontansouely 6-12 mo |
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PDA
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machine like murmur
wide pulse pressure common in premies txt: endomethacin |
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ASD
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loud S1/S2 with fixed splitting
LUSB sys murmur |
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transposition of great arteries
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" egg on a string" on CXR
- poor feeds, cyanosis, no murmur - use PGE to keep PDA ( ductal dependent) |
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tricuspid atresia
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no outlet btwn RA and RV
- cyanotic infant with Left Axis Deviation! |
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seborrheic dermatitis
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craddle cap
greasy, waxy, itchy dandruff, forehead, eyebrows txt: mineral oils, topical steroids |
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ptyriasis rosacea
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herald patch on chest, xmas distribution , salmon
txt: supportive |
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wiscott aldrich syndrome
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x linked
triad: thrombocytopenia, eczema, infections |
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impetigo
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golden yellow crust
ass with post strep glomerulonephritis txt: mupirocin |
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HSP
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ab pain, palpalble purpura, joint pain, hematuria, swollen scrotum
- inc risk for intussception !! |
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bells palsy
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unilateral facial weakness
2 wks post viral illness txt: moisture for eyes, usu spontaneously resolve |
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juvenille RA
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over 16, pain> 6 wks; fever spikes, salmon colored rash
- iridocyclitis in females ( ant uveitis) Rec: slitlamp exam |
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SSS
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rash, then fever, crusting of skin and blisters
+ nikolsy sign ( peeling of epidermis) txt: IV abx- flucloxacillin |
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pityriasis rosea
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herald patch: single lesion , usu on chest --> becomes more diffuse
xmas tree distribution txt: NO TXT , maybe steroids, antihistamines |
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psoriasis:
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silvery scale on surface: scalp, knees, elbows
+ auspitz sign: bleed when removed |
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eczema
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flexor surfaces ( arms, legsm cheecks),
itchy, scratcyh txt: skin hydration , topical steroids, |
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erythema toxicum
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50 % nerwborns, wax and wane rash; erythema with central clear pustule
-high eosinophils txt: benign, self limited |
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milia
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small white dots on the nose,
non erythematous |
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Vaccines CI for DTap
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encephalopathy ( coma, alt level of conscoiusness) within 7 days of previous dose
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Egg allergies, which vaccines CI
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flu and yellowfever;
NOT MMR |
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Scabies
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itchy, interdigital areas, groin, elbows
-palms, soles, face spared txt: permethrin cream |
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transient tachypnea of newborn
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resp distress after birth
C section xray: fluid in fissures, perihillar streaking txt: resolves |
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head lice txt
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permethrin creas
dont use 1% lidocaine: neurotoxicity |
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choleasteastoma
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white polyp through the TM
pt have hx of ottitis media txt: refer for surgery |
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LAD
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peristent attachement of umbilical cord
dx: measure CD11b via cytometry |
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dog bite
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-risk for pasturella multicoda
-copious irrigation txt: amoxocillin.clavulanate |
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frAgile X
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dominant X linked
long face, lArge ears, micro penis, lArge testes , MR -defect in FMR gene, trinucleotide repeat dx: DNA test |
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urachal cyst:
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clear/ yellow fluid form the umbilicus
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trisomy 18 ( edwards)
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clenched fists, rocker bottom feet; horseshoe kidney, micrognathia
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trisomy 13
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cutis aplasia of scalp, microcephaly, coloboma ,
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cornelia de lange
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bushy eyebrows,hirsutism,limb defects
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nightMares
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reM sleep; child sleep , no crying, no screeming, child doesnt remember
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nighterrors
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non REM, child awake, screaming, inc heartrate, frightened
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somniloqy
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sleep talking
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somnambulism
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sleep walking
Stage 4 sleep non REM |
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B12 def
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strict vegans;
breast fed baby whose mom had pernicious anemia s/s: parathesia, sensory defects, megaloblastic anemia |
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riboflavin def
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photophobia, burning itchy eyes, blurry vision
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B6/pyridoxine def
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use of INH, penicillamine, steroids,
s/s: convulsions, seizures, peripheral neuritis, |
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folate def
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sickle cell disease
NSAID use, dilantin, phenytoin, methotrexate s/s: glossitis, ulcers, megaloblastic anemia |
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niacine
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pellagra dermatitis, dementia, diarrhea
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vitamin A overdose
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h/a; vomit, alopecia, desquamation of soles and palm, inc CSF pressure ( pseudotumor cerebri)
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nicotinic acid OD
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flushing, pruritis; liver damage; hyperurecemia; hyperglycemia
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Vit C oD
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kidney stones ( Ca oxalate) , diarrhea cramps
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Vit D OD
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n/a/ab pain; constipation; poor feeds; dec QT interval; kidney and soft tissue calcifications; polyuria
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B6 OD
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sensory neyropathy, ataxia
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Lead poisoning
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ab sleep patterns, anorexia, dec activity, irritable, encephalopathy ataxia
txt: dimercaprol and Ca EDTA |
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acetaminophen poisoning
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-inc LFT's ( 24-48 hrs); emesia, diaphoresis
txt: N acetylcysteine |
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narcotic poisoning
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usu in babies whose mom used pain meds during labor
- s/s: lethargic, poor tone, inc HR - txt: naloxone |
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salicylate poisoning
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met acidosis, hyperglycemia, bell ringing in the ears
txt: IV Na Bicarb |
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phenothiazine
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EPS like syndrome; oculogyric crisis, tremors, torticollis,
txt: Diphenhydramine |
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Fe OD
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GI prob: hematemesis; diarrhea, ab pain; on XRay: radioopaque
txt: IV/IM deferoxamine |
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methanol toxicity
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met acidosis, anion gap acidosis, seizures
txt: IV ethanol ( to saturate the enzyme that converts methanol into toxins) |
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lithium tox
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ebstein anomaly
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ace inhibitors tox
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renal dysgenesis , skill ossification, oligo
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isoretinoin
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hydrocephalus
CNS defects small thymus heart defects |
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Rubella
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deafness, cataracts, PDA
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neonatal lupus
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congenital heart block
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chronic granulomatous disease
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defective NADPH
- frequent liver abscess - dx: (-) nitroblue tetrazolium test |
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wisckott aldrich
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eczema, thrombocytopenia, infections, petechiae
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Asplenia
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howell jowell bodies; inc risk of infection with: N. meningitis, Strep Pneumo
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genu varum
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usu improves spontaneosly
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blount Dz
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prob in the medial aspect of proximal tibial epiphysis ; genu varum worsens
on xray: beaking at the proximal tibial epiphysis txt: bracing ( up to age 3) |
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Legg Calve Perthes
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painless limp, NO Fever, mild thigh pain
avascular necrosis of the femoral head age 2-12 |
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Osgood Schlatter
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-overuse injury --> injury to tibial tubercle
-swelling and knee pain localized to tubercle txt: restm, NSAIDs |
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SCFE
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overwt adolscent ;
pain; pain from hip may be referred to knee xray: capital femoral epiphysis is separated from femur |
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popliteal baker cyst
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posterior aspect of knee
txt: observe |
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septic arthritis
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- usu due to Staph Aureus
-fever, refusal to move joint; swollen, tender, resist to passive mvt -ESR > 40; WBC>12000 -dx: joint aspiration , cloudy with lots of PMN's |
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transient synovitis
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-postviral infection; painful limp
NORMAL WBC ( vs septic arth) high ESR, txt: self limiting |
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osteomyelitis
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focal pain + fever
NO limit to ROM; wt bearing ok |
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fetal etoh syndome
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microcephaly, SMALLpalpebral fissure, smooth filtrum, thin upper lip , CNS abnormalties
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Trisomy 21
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-protruding tongue
BRUSHFIELD spots , redundant neck skin, DOWN slanting palpebral fissures , palmar crease, clindactyly of 5th finger |
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trisomy 18 ( edwards)
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-POLYhydramnios
-clenches fists, rockerbottom feets, horseshoe kidney |
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phenytoin ( dilantin ) exposure
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-folate def
-midface hypoplasia -low nasal bridge -ocular hypertelorism |
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alport syndrome
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-X linked
-mc hereditary nephritiis leading to ESRD -hematuria, deafness, ocular prob ( dislocation of lens) |
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IODM
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caudal regression syndrome
small left colon met abn ( hypoCa, hyperALBU, HYypoGly, hypoMg) |
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physiological jaundice
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-peak at 2nd or 3rd DOL
-rate of rise less than 5 mg/24 hr - cong bili doesnt exceed 1 mg/dl |
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jaundice in first 24 hrs of life
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hemolysis
indirect hyper bili ( in unconjugated) |
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choanal atresia
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- breathing prob when feeding or sleeping; inproved O2 when crying during 1st few hrs of life
Dx: failure to pass catheter into nose ; check for fog on metal placed under nares txt: surgery |
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neonatal varicella exposure
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VZIG given immediately to infant if mom had chicken pox 5 DAYS PRIOR to delivery or if chicken pox started 2 DAYS AFTER delivery
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CI to breast feeding
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-active Tb, HIV, malaria, typhoid fever septicemia,
- if mom on antineoplastic drugs, amphetamines, lithium, cyclosporine, ergotamines, bromocriptine, tetracylcine, illegal drugs -not CI: inverted nipple, cracked dry nipples, mastitis, viral illness |
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deficiencies in breast milk
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low Ca , Low ph, low Vit D
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asphyxia
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- low apgar, meconium staining
, resp distress, high pulm arterial pressure - risk of cerebral palsy |
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CMV
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PETECHIAE, JAUNDICE, hepatomegaly, splenomegaly, microcephaly
- usu passes in 1st trimester |
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hemataemesis and melena in neonatal period
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do APT TEST: wil differentiate fetal hb from maternal hb in blood specimen
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NEC
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premies; bloody stool, DISTENDED ABDOMEN ( inc abd volume) ;
-Xray: pneumatosis intrstinalis txt: bowel rest, NG tube to decompress |
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cold neonate
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-babies dont shiver when cold
- manifests as TACHYPNEA - premie --> csnt oxygenate properly --> met acidosis - temp should not fall in infants --> sign of infections |
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apnea
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-absence of respirations > 20-25 sec + bradycardia and cyanosis
- secondary to an immature developed resp ctr |
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Galactosemia
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-AR
-jaundice, hepatomegaly, FTT, cataracts , - inc risk of E coli sepsis -txt: no lactose, start soy or casein diet -sequelae: ovarian failure, low bone mineral density; dev delay |
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clavicle fracture
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- callous formation ( shoulder mass) 1 wk after birth
- RF: LGA baby - txt: supportive, reassurance |
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Erb Duchenne Paralysis
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- no moro reflex
- s/s: arm internally rotated,pronated, adducted - CN 5 and 6 affected - suspect PHRENIC N. --> paralyzed diaphragm remains elevated on inspiration dx: fluroscopy - seesaw |
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klumpke paralysis
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"claw hand"
-injury to cervical N 7 and 8 -hand palsy + horners |
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subgaleal/subaponeurotic hemorrhage
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-inc head circumference; squish scalp; fluid wave over scalp ; crosses suture lines
- can lose blood into this space --> hypovolemic shock txt: ICU monitoring |
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hyperviscosity syndrome
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tremors + jitters --> seizures due to sludging of blood in brain
- risk of thrombus, Renal vein thrombosis, NECM txt: partial exchange tranfusion |
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chemical conjunctivitis
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6-12 hrs after birth
due to erythromycin prophylaxis txt: self resolves |
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gonococal conjunctivitis
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2-5 days after birth
txt: |
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mydial conjunctivitis
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5-14 days after birth
- txt: erythromycin - if asymptomatic infant born to chlamydia + mom are watched closely ( inc incidence of hyper trophic pyloric stenosis from erythromycin) |
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pregnancy induced htn
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-inc risk in teen/adolescent ;
-causes hypoxemia --> decrease glycogen storage --> hypoglycemia + polycythemia |
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infant born to HIV + mom
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perinatal admin of antivirals to mommy + course of zidovudine to baby
- ELlisa ill be + in infant born to HIV mom |
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turner syndrome in new born
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-45 XO
- edema over dorsum of hands/feets; redundant skin folds at naps of neck; streak gonadsl coarctation of aorta, bicuspid AV; shield chest horseshoe kidney |
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normal findings in normal neonate
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-liver palpable 2 cm below the coastal margin
-body wt will dec 10% for first week of life , |
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mongolian spot
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blue gray lesion over buttocks, lower back, extensor surfaces
txt: will disappear by 1-2 mo |
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diaphragmatic hernia
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resp failure, scaphoid abdomen, bowel sounds in chest
diag: NG tube curves on affected side |
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TE fistula
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-abd distension, chocking, drooling coughing with first feed
- must check for VATER association: ( vertebral malformation, anal fistula, TE , Renal anomalies) |
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Infant of HbSAg + mom
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HB IG and Hep B Vaccine
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duodenal atresia
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-"double bubble " on xray
-bilious vomit , polyhydramnios, regurgitation; - Downs syndrome |
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goats milk
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low folate and Fe--> anemia
- risk of brucellosis |
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cleft lip/palate
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recurrent ottits media; hearing loss; speech prob;
repair cleft lip: 1st 2-3 mo of life repair cleft palate: 6mo-5yo |
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congenital hypothyroidism
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umbilical hernial; large fontanelles; feeding prob; constipation, jaundice; edema in extremities; anemia; low HR
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congenital syphillis
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maculopapular peeling rash on palsm and soles; rhinitis; snuffles; anemia, thrombocytopenia; mulberry molars; keratits
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congenital rubella
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-cataracts, thrombocytopenia; PDA, inc risk of DM;
-pulm stenosis, septal defects; longitudinal striations in metaphyses |
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congenital herpes simplex
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fever + seizure at 1 wk
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congenital toxo
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hydrocephalus, chorioretinitis; intracranial calcifications; anemia
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congenital CMV
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microcephaly; thrombocytopenia; hyperbili, hearing loss ; hepatosplenomegaly
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5th finger polydactyly
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-common in blacks
-if white --> cardio exam warranted |
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heroin withdrawal syndrome
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coarse tremor, high pitched cry , diarrhea, emesis
-high surfactant production --> hyperventilation |
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wilms tumor
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-painless ab mass, doesnt cross the midline ( beckwidth weidman)
-anirida, htn, hematuria, hemihypertrophy |
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Waardenburg Syndrome
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-AD
-broad nasal bridge; partial albinism, white forelock , deafness |
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stuge weber syndrome
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capillary malformation in trigeminal distribution; seizures
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Tuberous sclerosis
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-AD
-hypopigmented spots =ash leaf -sclerotic tubers -infantile spasms ( inc EEG) -adenoma sebaceum -shagreen patch ( rough lesion over sacral area) -calcification on CT |
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oligohydraminos
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ass with congenital ab of the kidney
- renal agenesis or obstruction |
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twin twin syndrome
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-hct diff by 15 btwn twins
-donor twin: oligo; anemia, hypovolemia -recipient: hydramnios, plethora, 20% body wt incr; in hct> 65%; hyperbili; resp distress; hypoCa; Renal vein thrombosis, CHF, convulsions |
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bartonella henselae
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-cat scratch disease
-parinaud oculoglandular symptoms ( if inoculation occurs near the conjunctivae) |
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H pylori infection
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- ass with antral gastritis and duodenal disease
dx: req endocopy and biopsy |
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pseudomonas
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trauma, burns, swimming pool
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infectious mono
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-EBV
-h/s fatigue, abd pain, myalgia, -avoid contact sports - |
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rubella
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PDA, cataracts. deafness, inc risk for DM
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dacryocystitis
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-infection of nasolacrimal sac
-erythema and swelling near the lower lid near the punctum ; clear sclera and conjunctiva txt: abx, massage, warm cloth |
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chalazion
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firm, non tender bum on the lid
txt: spontaneously resolves |
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measles ( rubeola)
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3"cs; koplick spots; rash ( head --> trunk)
complications: pneumonia, laryngitis, myocarditis, encephalitis |
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rubella ( german measles)
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URI symp; posterior and post occipital lymphadenopathy, followed by a rash that clears in 3 days
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waardenburg syndrome
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AD
broad nasal bridge albinism white forelock deafness |
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CI to lumbar puncture
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inc ICP
skin infection at site severe thrombocytopenia cardio resp distress |
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croup
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due to parainfluenza
barking seal like cough infection of larynx txt: racemic NE and steoids PO |
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staph pneumonia
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usu due to S. aureus
abrupt onset of high fever, and resp distress inc WBC w/ left shift |
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hereditary fructose intolerance
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jaundice, vomiting, lethargy when fruit juices introduced
+ for reducing substances |
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TCA OD
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wide QRS, Rt bundle branch ,
txt: NA Bicarb |
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Rheumatic fever Jones criteria
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Major: carditis, chorea, arthritis, sub cutaneous nodules, erythema nodosum
Minor: inc crp, inc esr, anemia, inc wbc, arthrlagia, prolonged PR/QT - need 2 major, or 1 major and 2 minor - arthralgia is most common finding |
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most common cyanotic lesion in immediate newborn period
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transposition of great vessels
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transposition of great vessels
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-common in IODM
-xray: eggs on a string - rt axis deviation - txt: give PGE , ballon atrial septostomy |
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ebstein anomaly
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-Lithium use
-downward displacement of tricuspid valve --> enlarged RA - gallop rhythm txt: maintain PDA via PGE1 |
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WPW
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-early ventricular depolarization
- Delta waves - shorten PR interval |
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TOF
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boot shaped heart
knee chest position txt: propanolol |
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ehler danlose
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mitral valve prolapse
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noonan syndrome
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" male turner syndrome"
- shield like chest, low slanting palpebral fissures, cryptorchidism, -pulm stenosis , hearing loss |
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JRA
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swelling of finger joints, salmon colored rash, spiking fevers , uvetitis
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tricuspid atresia
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no outflow from RA to RV
augmented by PDA ( so need PGE) - inc Left vent impulse -- Left axis deviation |
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total anomalous pulmonary venous return
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" snowman " on radiograph
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bronchiolitis
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RSV
resp distress; cxr: patchy infiltrates, flat diaphragm, hyperinflation txt: supportive |
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lung empeyema
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" white out" on cxr
- staph A, S. pneumo - txt: vanco |
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functional constipation
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constipation w/ soiling ; poor sphincter tone
txt: reassurance, dietary counseling |
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meconium ileus
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- bilious vomiting in 1 day old
failure to pass stool in 24 hrs of life; echogenbic bowel on u/s |
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pyloric stenosis
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non bilious projectile vomiting
abd u/s, surgery |
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duodenal atresia
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-bilious vomiting in 1st few days
- xray: double bubble |
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intussception
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colicky ab pain ( knees flexed to chest); suasage like mass in RUQ;
txt: air contrast enema |
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gross stool in newborn
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APt test
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NEC
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pneumatosis intestinalis
ab distention txt: bowel rest, NG tube to decompress; |
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vit K def
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umbilical stump, hematemesis, bloody stool
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Vit C def
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tenderness in legs; hemorrhage; purpura around hair follicle
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teeth in newborn
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mandibular--> maxillary --> lateral
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2 wk bloody grey discharge from newborn vagina
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normal, due to estrogen w/d
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prune belly syndrome
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wrinkled abdomen
dilated urinary tract --> big belly undescended testes olig --> resp distress , pneumothorax |
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good pastures
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hemoptysis, hematuria, proteinura,
dx: kidney biopsy |
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HUS
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bloody diarrhea,
fever renal failure |
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fanconi syndrome
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-proximal tubular defect
-horshoe kidney, polydipsia, polyuria, glucosuria labs: normal glucose, normal protein cause: outdated tetracyclines, |
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phimosis
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inability to retract forskin,
white cheeselike material on foreskin txt: normal until 3 yo, no txt |
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minimal change disease
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# 1 cause of nephrotic syndrome in kids
- htn, edema, oligouria, hematuria txt: steroids |
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VUR grade
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grade 1: reflux of urine and undilated ureter
grade 2: reflux of urine , undilated urine, undilated collected system grade 3: dilatation of ureter and collecting ducts, no blunting of calyces grade IV: blunting of calyces grade V: turtuosity of calyx txt: grade I, II: observ , daily low dose abx, UA Cx q3 mo grade V: surgery |
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posterior urethral valve
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male with palpable kidneys , weak urinary stream
dx: VCUG |
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horseshoe kidney
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turners, fanconi,
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hypertensive encephalopathy
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recurrent UTI, elevated BP, H/A
vomiting, hyperreflexia, ataxia, abd bruits |
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cryptorchidism
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undescended testes
- undescended by 6 mo; boys at risk for testicular torsion, |
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mid stream clean catch
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if child asym: 10^5
if child is symp: 10^4 |
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post strep glomerulonephritis
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following impetigo
hematuria, dec urine output; periorbital edema, htn txt: advise pt to fluid restrict; |
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idiopathic hyperCa
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recurrent gross hematuria
dysuria ab pain NO STONE FORMATION |
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alport syndrome
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X linked
hearing loss; hematuria ocular abn; |
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hydrocele
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fluid in tunica vaginalis
transilluminates usu resolves within 1st YOL |
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varicocele
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bag of worms
painless; dilated pampiniform plexus; may affect sperm count txt: reassurance and education |
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HSP
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purpura on Butt and legs
ab pain hematuria and proteinuria arthritis |
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vulvovaginitis
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dysuria, fould smell d/c staining on underwear; intact hymen , red vulva
- txt: recommend no bubble baths, dont wear tight clothing |
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epididymitis
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redness, warmth, and scrotal swelling, posterior pain,
dx: pain relief with elevation of testicle ( if no relief, then torsion) ; - doppler u/s txt: Abx |
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testicular torsion
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-acute scrotal pain 12 yo>
-dopler radionucleotide ( decrease uptake) txt: Immediate surgery |
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ph dependent substances that cause urine to be red
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red cool aid; beets, blackberries, phenindione
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ITP
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bruising petechiae, no HSM, thrombocytopenia
txt: IV IM/ steroids |
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Fe def anemia
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trial of Fe
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Lead levels
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should be less than 10
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Diamond black fan anemia
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-pallor in infancy
-short stature, triphylangial thumb; cranial abnormalities, -increase ADA txt: steroids |
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transient erythroblastopenia of childhood
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#1 RBC aplasia
pallor, anemia, reticulocytopenia normal ADA levels txt: self limiting |
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kasabach merrit
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-infants + vascular tumors
- kaposiform hemangio-endothelioma -thrombocytopenia, inc coagulation, txt: alpha inteferon, vincristine |
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nevus simplex
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vascular malformation on eyelids, nape of neck, face
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nevus flammeus
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port wine stain in trigeminal region
stuge weber |
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G6PD def
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x linked
sulfa drugs, antimalarials, + heinz bodies, bite cells in AA --> self limited , supportive therapy and folic acid |
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retinoblastoma
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-white reflex / reflection in picture
-consult optho at risk for: osteosarcoma and melanoma no need for biopsy |
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physiologic anemia of infancy
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dec Hb after borth - nadirs at 6-8 wks
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leukemia
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most common childhood malignancy
- M>F pale, tired, bleeding gums, petechiae - blast forms , HSM, LAN dx: bone marrow biopsy |
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wilms tumor
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ab mass DOESNT cross midline
hematuria htn, aniridia, horseshoe kidney, txt: periodic abd u/s |
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neuroblastoma
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painless ab mass that CROSSES midline ,
fever, bone pain, limp, diarrhea |
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blood eosinophilia
|
asthma, eczema, drugs, helminth infections, neoplasms, collagen vascular disease
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DIC
|
fragmented cells; prolonged PT, PTT, TT;
-decreased fibrinogen, increase in fibrin split products |
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vWD
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# 1 hereditary bleeding disorder
- excessive bleeding txt: DDVAP; desmopressin |
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osteosarcoma
|
-sunburst pattern;
-all races ; -nocturnal pains; - inc risk of: retinoblastoma, pagets, |
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thal major
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anemia, heart fialure, HSM, target cells on smear,
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hodgkins
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constitutional s/s: fever, malaise, wt loss,
- must do CXR: mediastinal mass |
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malignant hyperthermia
|
-ryanodine receptor
- after surgery : high fever, muscle rigidity, myoglobinuria ( inc CK levels,) ARF txt: dantrolene dx: caffeine contracture test |
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acute disseminated encephalomyelitis
|
autoimmune demyelinating disease
- kids < 10 yo; - may happen after; viral infection, HSV, rubella, mumps, immunizations - systemic s/s , fever ataxia weakness MRI: disseminated multifocal white matter lesions that enhance with contrast txt: high dose steroids |
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homocystinuria
|
-marfinoid habitus + sudden hemiplegia
- AR - s/s: arachnodactyly; dislocated lens; MR |
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pituitary craniosynostosis
|
premature fusion of a single suture
; 1 is ok; txt: consult neurosurgery |
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MG
|
-autoimmune
-s/s: ptosis; weakness of EOM, dysphagia, facial muscle weakness; CPK normal dx: txt: neostigmines |
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pseudoseizure
|
seizure like activity with no epileptiform mvt on eeg
- unusual posturing and sounds - pupillary light response normal txt: refer to psych |
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|
supratentorial brain tumor
|
gradual onset
repeated h/a gradual weakness |
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tay sachs
|
AR
def: hexosaminidase A cherry red spot , hyperacusis |
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niemann pick
|
dec sphingomyelinase
normal birth --> then HSM, LAN, |
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gaucher
|
dec B glucocidase;
erlymyer flask pancytopenia |
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