lysosomal storage diseases

Question 1

angiokeratomas, cardiac & renal involvement, painful neuropathy

Answer 1

Fabry disease; x-linked; alpha-galactosidase def.; accumulated ceramide trihexoside

Question 2

macrophages that look like crumpled tissue paper, hepatosplenomegaly, pancytopenia, severe bone and joint pain

Answer 2

Gaucher disease; AR; beta-glucocerebrosidase def.; accumulated glucocerebroside

Question 3

gargoylism, corneal clouding, hepatosplenomegaly, developmental delay

Answer 3

Hurler syndrome; AR; alpha-L-iduronidase def.; accumulated dermatan and heparan sulfate

Question 4

gargoylism, hepatosplenomegaly, developmental delay, milder

Answer 4

Hunter syndrome; x-linked; iduronate sulfates def.; accumulated derma tan and heparan sulfate

Question 5

hepatosplenomegaly, cherry-red spot in macula, foam cells, progressive neurodegeneration

Answer 5

Niemann-Pick disease; AR; sphingomyelinase def.; accumulated sphingomyelin

Question 6

cherry-red spot in macula, progressive neurodegeneration; no hepatosplenomegaly

Answer 6

Tay-Sachs disease; AR; beta-hexosaminidase A def.; accumulated GM2 ganglioside

Question 7

progressive neurodegeneration; optic atrophy

Answer 7

Krabbe disease; AR; galactocerebrosidase def.; accumulated galactosylsphingosine and galactocerebroside

Question 8

muscle wasting, dementia, ataxia

Answer 8

metachromatic leukodystrophy; AR; arylsulfatase A def.; accumulated cerebroside sulfate