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Peds Neuro > PEDIATRIC REVIEW TABLE - Genetic Flashcards (3) > Flashcards

PEDIATRIC REVIEW TABLE - Genetic Flashcards (3)

1
Q

methylmalonic acidemia

A 
D-methylmalonate mutase - 
MM-CoA + propionyl-CoA accumulate
Hyperglycinemia
Ketosis 
Hyperammonemia
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2
Q

cystathionine B deficiency

A

AR-
Homocystinuria, high cystathionine + methionine
Marfanoid habitus
Rx w B6.

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3
Q

biotinidase deficiency

A

Ketoacidosis
hyperammonemia
organic aciduria

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4
Q

Glycine encephalopathy

A

Glycine decarboxylase -
cerebellar hypoplasia -
burst suppression/hypsarrhythmia

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5
Q

Tuberous Sclerosis

A

AD - TSC1(tuberin) +TSC2 (hamartin)

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6
Q

Menkes

A

XR - ATP7A - kinky hair + skin hyperelasticity

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7
Q

Abetalipoproteinemia

A

AR - microsomal TG transfer (P) -
acanthocytes -
DC dysfunction-
acq vitamin E deficiency

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8
Q

X linked lissencephaly

A

XR - DCX (doublecortin)

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9
Q

Rett

A

XD - MeCP2

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10
Q

NF1

A

AD - neurofibromin - chromosome 17

Lisch nodules/axillary freckling/spots/cut neurofibroma

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11
Q

NF2

A

AD -
merlin - chromosome 22
b/l vestib schwannoma / meningioma

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12
Q

Incontinentia pigmenti

A

XD - NEMO gene

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13
Q

Glut1 transporter deficiency

A

Epileptic encephalopathy -

hypoglycorrhachia

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14
Q

Lesch-Nyhan

A

XR - HGPRT -

self mutilation + dystonia, choreoathetosis

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15
Q

Alexander

A

AD - GFAP -

U fibers always involved

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16
Q

Canavan

A

AR
Aspartoacylase - central myelin ONLY
U fibers always involved

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17
Q

Pelizaeus Merzbacher

A

XR - PLP1

U fibers spared

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18
Q

Vanishing WM disease

A

AR - eIF2B-TRP

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19
Q

Metachromatic leukodystrophy

A 
arylsulfatase A
"optic atrophy, ataxia, dementia
 behavioral change, spastic ataxia
 psychosis, dementia"
Increased urine sulfatides
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20
Q

Adrenoleukodystrophy

A 
XR (neonate) AR (child/adult
Acyl Coa synthetase
"adrenal failure, testicular atrophy, cirrhosis
dementia, ataxia, seizures"
U fibers spared
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21
Q

Aicardi

A

XD - infantile spasms + corpus callosum agenesis + chorioretinal malformations

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22
Q

Zellweger

A

AR - PEX1-

MICROcephaly, leukodystrophy, hypotonia, coarse facial features

23
Q

Phenylketonuria

A

AR - phenylalanine hydroxylase

24
Q

propionic acidemia

A

AR-
propionyl CoA carboxylase-
ketoacidosis, high pCOA serum

25
Q

Ataxia w oculomotor apraxia type I

A

Aprataxin -
onset childhood -
neuropathy

26
Q

Ataxia w oculomotor apraxia type II

A

Senataxin -
onset adolescence -
myoclonus/chorea

27
Q

SCA-11

A

AD - tau-tubulin kinase
(only non-trinucleotide rpt SCA) -
pure cerebellar symptoms w mild pyramidal signs

28
Q

Wilson disease

A

AR - ATP7B -

copper is not adequately secreted into bile –> Cu increases in serum

29
Q

SCA-1

A

AD - ATXN1 -

hypermetric saccades + hyperreflexia

30
Q

SCA-2

A

AD - ATXN2 -

hypometric saccades + parkinsonism and dementia

31
Q

PKAN

A

AR - pantothenate kinase 2 - dystonia - choreathetosis - EYE OF THE TIGER sign

32
Q

Primary generalized dystonia

A

AD - torsin A - aka DYT1 dystonia - kinesogenic at 1st then generalized

33
Q

dopa responsive dystonia/Segawa syndrome

A

AD - GTP cyclohydrolase1 -
THB synthesis, req’d by tyr hydroxylase to make DA
aka DYT5

34
Q

ADNFLE

A

AD - nicotinic AcH (R)

35
Q

Ataxia telangiectasia

A

AR - ATM1 (DNA repair)

36
Q

Fragile X linked ataxia

A

XR -
CGG repeat in FMR1 gene (>200 repeats)
parkinson+ataxia in grandparent of Fragile X kid

37
Q

episodic ataxia type 1

A

KCN1A - ep. ataxia +facial twitching - Rx = CMZ

38
Q

episodic ataxia type 2

A

CACN1A4 - ep. ataxia + nystagmus/dysarthria - Rx = diamox

39
Q

Cerebrotendinous xathomatosis

A

AR -
27-sterol hydroxylase -
cholesterol/stanol deposited in tendons + CNS
- neuropsych sx/ataxia/parkinsonism

40
Q

Galactosemia

A

3 mutations: epimerase - galactokinase - uridyltransferase

41
Q

Gaucher

A 
AR - 
glucocerebrosidase - 
type1: no CNS involvement; 
type2: 2y, HSM, ataxia, EOM inv. - 
wrinkled tissue paper cells
42
Q

Fabry

A

XR -
a-galactosidase -
arrhythmia + ESRD + sm fiber neuropathy + ANGIOKERATOMA + ischemic stroke

43
Q

Niemann Pick A

A

AR - sphingomyelinase -

CHERRY RED SPOT + HSM

44
Q

Niemann Pick C

A

AR - NPC1 -
positive filipin test -
HSM, ataxia, MR

45
Q

GM1 gangliosidosis

A

AR - beta galactosidase -

coarse facial features + HSM

46
Q

Tay Sachs disease

A

AR - hexosaminidase A -

CHERRY RED SPOT

47
Q

Sandhoff

A

AR - hexosaminidase A+B -

CHERRY RED SPOT + HSM

48
Q

Krabbe

A

AR - galactocerebrosidase -
optic atrophy, spasticity, b regression -
peripheral neuropathy (PNS myelin)
U FIBERS spared

49
Q

Glutaric aciduria type I

A

Macrocephaly, bilateral SDHs

Leukodystrophy

50
Q

LRRK2

A

Leucine rich repeat kinase 2.
Encoded by PARK8 gene.
The Gly2019Ser mutation in PARK8 (LRRK2) = AD.
Most common cause of AD, adult-onset PD

51
Q

Parkin

A

Encoded by PARK2 gene.
Mutations in PARK2 =MCC of juvenile onset AR PD.
Do not form Lewy bodies.

52
Q

Refsum disease

A

AR
phytanoyl-CoA-hydroxylase
Ataxia, neuropathy, scaly skin
High phytanic acid level

53
Q

Megalencephalic leukodystrophy w subcortical cyst

A

aka MLC. AR.
MLC1 gene.
Leukopathy, large head, multiple TEMPORAL cysts.

Peds Neuro (1 decks)

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