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Peds Flashcards

(52 cards)

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1
Q

Periventricular nodular heterotopias

A

FLNA filaminA female

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2
Q

Miller diker

A

LIS1 del

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3
Q

Xlink lissencephaly

A

DCX male, ARX abnl genitals

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4
Q

Cobblestone

A

Walker-Warburg (severe, eye abnl also), muscle eye brain, Fukuyama musc dystrophy (below), glycosylation congenital musc dystrophies
Subcortical band heterotopia (double cortex, DCX mut in females).

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5
Q

Neimann Pick

A

AR , A( sphingomyelinase, sphingomyelin accum, cherry red spot, foam cells/lamellar bodies) B (Biceral), C (Filipin test, cholesterol transport def, accum phospho/glycolipids, same path)

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6
Q

Fabry

A

X, a-galactosidase, accum ceramide trihexoside, small fiber neurop, angiokeratomas (dark punctate in scrotum, axilla), cardiac, renal, dolichoectasia = strokes, path birefringent lipids

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7
Q

Krabbe

A

galactocerebrosidase, galactocerebrosides in macrophages (globoid cells) demylination spare Ufiber, opisthotonus

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8
Q

GM1

A

AR, b-galactosidase, hepsplen, cherry, coarse face, neuronal balloning

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9
Q

GM2

A

Tay-Sachs - hexosaminidase A, ONLY CNS Askenazi, cherry red,
Sandhoffs - hexosaminidase A/B, hepatosplenomegaly

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10
Q

Metachromatic leukodystroiphy

A

AR, arylsulfatase A, sulfatide accum->demylination, T2 subcortical sparing U, GALL BLADDER

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11
Q

Hurler

A

a-L-iduronidase (heparan/dermatan sulfate accum), coarse face, dwarf, EM zebra bodies

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12
Q

Acid maltase def

A

a-1,4-glucosidase, glycogen accumulation, acid phosphatase stain of vacuoles. Pompe

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13
Q

McArdles

A

myophosphorylase def, exercise induced weakness/cramps, silent EMG w/ contracture, “second wind” ok to go after rest

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14
Q

Neuronal ceroid lipofuscinosis

A

AR, CLN genes, path EM neuron membrane bound granular osmiophilic deposits, fingerprint bodies

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15
Q

Guacher

A

AR, glucocerebrosidase, glucocerebrosides macrophage lysosomes (wrinkled tissue), Ashkenazi

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16
Q

Zellweger’s

A

(cerebrohepatorenal sx) - PEX, peroxisomal, high Very long chain fatty acids, brain migration issues, high forehead deformed earlobes

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17
Q

Aderenoleukodystrophy

A

X, ABCD1 (peroxisomal membrane transporter of VLCFA [accumulates plasma]), T2 posterior rim enhancing spare U.

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18
Q

Homocystinuria

A

AR, cystathione-b-synthase, high homocysteine and methionine, marfanoid, collagen issues (vascular too), rx. Pyridoxine, low prot

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19
Q

Maple syrup urine

A

AR, branched chain a-ketoacid dehydrogenase complex def, accumulate branched aa, rx low prot + thiamine

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20
Q

PKU

A

AR, phenylalanine hydroxylase, “musty odor”, pale blue eyes, low prot / phenylal diet

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21
Q

Leighs

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A

encephalomyelopathy, episodic deterioration, resp involved

22
Q

Kearns-Sayre

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A

external ophthalmoplegia, single large mitDNA deletion, heart block

23
Q

Orithine transcarbamylase

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A

XR, OTC mut, VPA triggered, hyperammonemia, resp alkalosis, nl anion gap, AR except OTC, low prot/nitrogen, give essential aa

24
Q

Sialidosis

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A

a-n.acetyl neuraminidase, urine sialic acid, cherry red myoclonus sx

25
Glycine encephalopathy (nonketotic hyperglycinemia)
glycine CSF and body, partial agenesis of corpus call, EEG burst suppression or hypsarrhythmia
26
Congenital disorders of glycosylation
AR, lipodystrophy (FUPA y lonjas en el culo), inverted nipples, dx carb deficient transferrin
27
Aicardi-Goutieres
BG calcification, microcephaly, inc interferon-a in CSF
28
Galactosemia
AR, galactose 1-phosphate uridyltransferase, galactokinase, uridine diphosphate galactose 4’ epimerase, mut GALT/GALK/GALE, reducing substance in urine, stop lactose and galactose
29
PDH
pyruvate to CO2 + acetyl CoA, lactic/pyruvate acidosis (low lact:pyruv ratio), rx keto
30
Pyruvate carboxylase
No keto
31
GLUT1
low CSF gluc, epileptic encephalopathy or paroxysmal exertional dyskinesias, rx keto
32
Propionic acidemia
propionyl-CoA carboxylase, ketoacidosis + hyperammonemia, hematologic (bleeding, pancytopenia)
33
Methylmalonic acidemia
methylmalonyl CoA mutase, metab acidosis (propionic acid, methylmalonic acid), hyperglycinemia+ketosis, hyperammonemia, rx. Low prot, b12
34
Biotinidase def
alopecia, ketoacidosis, hyperammonemia, organic aciduria, rx oral free biotin
35
Lesch-Nyhan
X, hypoxanthine guanine phophoribosyltransferase HPRT1, purine accumulate to uric acid, torticolis/dystonia, self-mutilation, gout, kidney stones, rx low purine
36
Canavan
ASPA, aspartoacetylase def accum N-acetylaspartic acid (MRSpec), Ashkenazi, megalencephaly, T2 diffuse w/ Ufiber
37
Pelizaeus-Merzbacher
PLP1, hypomelanotic leukodystrophy, tigroid MRI
38
Alexanders
GFAP, megalencephaly, bulbar, tadpole sign (atrophic c cord), Rosenthal fibers
39
Retts
X, MECP2, regression at 1yo, hand stereotypies, acquired microcephaly
40
Fragile X
FMR1 CGG rep (Child w/ Giant Gonads), long face
41
Microdel 15q11-q13
prader willi (dad) or angelmans (mom)
42
Menkes
X, ATP7A Cu transport, brittle hair, elastic skin, no eyebrows, cerebral atrophy with SDH, low ceruloplasmin and copper
43
Wilsons
AR ATP7B, copper accumulation, psych + hepatic + neuro (tremor “wing beating”, park), low ceruloplasmin high urine copper, T2 caudate/putamen “double panda”. D-penicillamine, trientine dihydrochloride, zinc, low Cu diet
44
TSC
TSC1 Hamartin, TSC2 Tuberin
45
Incontinentia pigmenti
X girls (boys die) NEMO mut, hyper then hypo pigmented lines
46
Neurocutaneous melanosis
giant hair pigmented nevi, melanoma risk, leptomeningeal melanosis, hydro
47
Parry Romberg
HEMIFACIAL ATROPHY
48
Maffuci
enchondromas (cartilage tumors) cause compressions
49
HHT OWR
AD, HHT-1, EPISTAXIS, AVMs, telangiectasias
50
Ataxia telangectasia
ATM, high a-fetoprot, child neuropathy, EOM abn (has to head thrust to move)
51
Struge-Weber
GNAQ, gyral calcific (tramtrack) hemiatrophy, port-wine
52
Pyridoxine dependent epilepsy
Antiquitin mut (ALDH7A1)

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