Presentation of Lysosomal Storage Diseases Flashcards
1
Q
Fabry Disease
A
Angiokeratomas, cardiac & renal involvement, painful neuropathy
2
Q
Gaucher Disease
A
Gaucher cells (macrophages that look like crumpled tissue paper), hepatosplenomegaly, pancytopenia, severe bone & joint pain
3
Q
Hurler Syndrome
A
Gargoylism, corneal clouding, hepatosplenomegaly, developmental delay
4
Q
Hunter Syndrome
A
Similar to Hurler syndrome (but milder) & no corneal clouding
5
Q
Niemann-Pick Disease
A
Hepatosplenomegaly, Cherry-red spot in macula, foam cells, progressive neurodegeneration
6
Q
Tay Sachs Disease
A
Cherry-red spot in macula, progressive neurodegeneration, NO hepatosplenomegaly
7
Q
Krabbe Disease
A
Progressive neurodegeneration, optic atrophy
8
Q
Metachromatic Leukodystrophy
A
Muscle wasting, dementia, ataxia
