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Neuroboards > Peds > Flashcards

Peds Flashcards

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

A

encephalomyelopathy, episodic deterioration, resp involved

22
Q

Kearns-Sayre

A

external ophthalmoplegia, single large mitDNA deletion, heart block

23
Q

Orithine transcarbamylase

A

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

24
Q

Sialidosis

A

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

25
Q

Glycine encephalopathy (nonketotic hyperglycinemia)

A

glycine CSF and body, partial agenesis of corpus call, EEG burst suppression or hypsarrhythmia

26
Q

Congenital disorders of glycosylation

A

AR, lipodystrophy (FUPA y lonjas en el culo), inverted nipples, dx carb deficient transferrin

27
Q

Aicardi-Goutieres

A

BG calcification, microcephaly, inc interferon-a in CSF

28
Q

Galactosemia

A

AR, galactose 1-phosphate uridyltransferase, galactokinase, uridine diphosphate galactose 4’ epimerase, mut GALT/GALK/GALE, reducing substance in urine, stop lactose and galactose

29
Q

PDH

A

pyruvate to CO2 + acetyl CoA, lactic/pyruvate acidosis (low lact:pyruv ratio), rx keto

30
Q

Pyruvate carboxylase

A

No keto

31
Q

GLUT1

A

low CSF gluc, epileptic encephalopathy or paroxysmal exertional dyskinesias, rx keto

32
Q

Propionic acidemia

A

propionyl-CoA carboxylase, ketoacidosis + hyperammonemia, hematologic (bleeding, pancytopenia)

33
Q

Methylmalonic acidemia

A

methylmalonyl CoA mutase, metab acidosis (propionic acid, methylmalonic acid), hyperglycinemia+ketosis, hyperammonemia, rx. Low prot, b12

34
Q

Biotinidase def

A

alopecia, ketoacidosis, hyperammonemia, organic aciduria, rx oral free biotin

35
Q

Lesch-Nyhan

A

X, hypoxanthine guanine phophoribosyltransferase HPRT1, purine accumulate to uric acid, torticolis/dystonia, self-mutilation, gout, kidney stones, rx low purine

36
Q

Canavan

A

ASPA, aspartoacetylase def accum N-acetylaspartic acid (MRSpec), Ashkenazi, megalencephaly, T2 diffuse w/ Ufiber

37
Q

Pelizaeus-Merzbacher

A

PLP1, hypomelanotic leukodystrophy, tigroid MRI

38
Q

Alexanders

A

GFAP, megalencephaly, bulbar, tadpole sign (atrophic c cord), Rosenthal fibers

39
Q

Retts

A

X, MECP2, regression at 1yo, hand stereotypies, acquired microcephaly

40
Q

Fragile X

A

FMR1 CGG rep (Child w/ Giant Gonads), long face

41
Q

Microdel 15q11-q13

A

prader willi (dad) or angelmans (mom)

42
Q

Menkes

A

X, ATP7A Cu transport, brittle hair, elastic skin, no eyebrows, cerebral atrophy with SDH, low ceruloplasmin and copper

43
Q

Wilsons

A

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
Q

TSC

A

TSC1 Hamartin, TSC2 Tuberin

45
Q

Incontinentia pigmenti

A

X girls (boys die) NEMO mut, hyper then hypo pigmented lines

46
Q

Neurocutaneous melanosis

A

giant hair pigmented nevi, melanoma risk, leptomeningeal melanosis, hydro

47
Q

Parry Romberg

A

HEMIFACIAL ATROPHY

48
Q

Maffuci

A

enchondromas (cartilage tumors) cause compressions

49
Q

HHT OWR

A

AD, HHT-1, EPISTAXIS, AVMs, telangiectasias

50
Q

Ataxia telangectasia

A

ATM, high a-fetoprot, child neuropathy, EOM abn (has to head thrust to move)

51
Q

Struge-Weber

A

GNAQ, gyral calcific (tramtrack) hemiatrophy, port-wine

52
Q

Pyridoxine dependent epilepsy

A

Antiquitin mut (ALDH7A1)

Neuroboards (7 decks)

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