neurocutaneous disorders Flashcards Preview

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Flashcards in neurocutaneous disorders Deck (29):
1

fabry's deficient enzyme

a-galactosidase A

2

gaucher's deficient enzyme

glucocrebrosidase

3

niemann pick enzyme

sphingomyelinase

4

tay sachs deficient enzyme

hexosaminidase A

5

krabbe's deficient enzyme

galactocerebrosidase

6

metachromatic leukodystrophy enzyme

arylsulfatase A

7

hurler's enzyme

a-L iduronidase

8

hunter's enzyme

iduronate sulfatase

9

fabry's substrate

ceramide
trihexoside

10

gaucher's substrate

glucocerebroside

11

tay sachs substrate

GM2 ganglioside

12

Krabbe's substrate

galactocerebroside

13

metachromatic leukodystrophy substrate

cerebroside sulfate

14

hurler's substrate

heparan sulfate
dermatan sulfate

15

hunter's substrate

heparan sulfate dermatan sulfate

16

X linked recessive

Fabry's
hunter's

17

cherry red spot with no hepatosplenomegaly

tay sachs

18

cherry red macula with hepatosplenomegaly

niemann Pck

19

foam cells

neimann pick

20

macrophages that look like crumpled tissue paper

Gaucher's

21

onion skin lysosomes

tay sachs

22

globoid cells

krabbe's

23

hurler's presentation

gargoylism
airway obstruction
corneal clouding

24

hunter's presentation

hurler's with NO corneal clouding

25

fabry's presentation

peripheral neuropathy
angiokeratomas
CV/Renal dz

26

gaucher's disease presentation

aseptic necrosis of femur
bone crisis
hepatosplenomegaly

27

Nieman pick presentation

neurodegeneration
hepatosplenomegally
cherry red macula

28

Tay sachs presentation

neurodegeneration
developmental delay
cherry red macula
NO hepatomegaly

29

krabbe presentation

peripheral neuropathy
developmental delay
optic atrophy