Lysosomal Storage Diseases

Question 1

What disease has Hepatosplenomegaly ( HSM), pancytopenia, osteoporosis, bone crises, and lipid laden macrophages

Answer 1

Gaucher disease

Question 2

Which disease has progressive neurodegeneration, hepatosplenomagaly (HSM, lipid laden macrophages, Cherry red macula spot

Answer 2

Niemann pick disease

Question 3

Which disease has progressive renal failure and cardiovascular disease

Answer 3

Fabry

Question 4

Which disease has central and peripheral demyelination with ataxia and dementia

Answer 4

metachromatic leukodystrophy

Question 5

Which disease has Peripheral neuropathy, developmental delay, and optic atrophy

Answer 5

Krabbe disese

Question 6

Which diesease has progressive neurodegeneration, developmental delay, cherry red spot on macula, no HSM, and onion skined lysosomes

Answer 6

Tay sachs

Question 7

Which disease has developmental delay, gargoylism, airway obstruction, corneal clouding, and HSM

Answer 7

Hurler

Question 8

Which disease has Developmental delay, gargoylism, airway obstruction, corneal clouding, HSM, aggressive behavior, no corneal clouding

Answer 8

Hunters