lysosomal storage Flashcards
1
Q
fabry disease
A
peripheral neuropathy of the hands and feet, angiokeratomas, cardiovascular and renal disease. cavernous hemangioma
2
Q
gaucher disease
A
most common. hepatosplenomegaly, pancytopenia, aseptic necrosis of the femur, bone crises, lipid-laden macros that resemble crumpled tissue paper.
3
Q
neimann-pick
A
progressive neurodegeneration. heptosplenomegaly, foam cells (lipid-laden macros), cherry-red spot on the macula. early death.
4
Q
tay sachs
A
progressive neurodegeneration developmental delay.cherry red macula, lysosomes with onion skin.
5
Q
metachromatic dystophy
A
central and peripheral demylination with ataxia and dementia.
6
Q
krabbe
A
developmental delay, peripheral neuropathy, optic atrophy, globoid cells.
