module 6: Inherited Lysosomal storage disease

Question 1

Gaucher’s Disease

Answer 1

Enzyme deficiency results in accumulation of glycolipid in macrophages

Big, wrinkled Gaucher cells in BM, anemia, leukopenia, thrombocytopenia

Question 2

Niemann-Pick disease

Answer 2

Enzyme deficiency results in accumulation of sphingomyelin and cholesterol in macrophages

Refractive globules accumulate in the cytoplasm of Riemann-Pick cells in the marrow

Question 3

Chediak-Higashi syndrome

Answer 3

Defective lysosome membrane fusion protein results in grossly abnormal granulation in many cells
Anemia, abnormal bleeds, endocrine problems, abnormal growth and recurrent infections - die preteens

Characteristic abnormal granulation in granulocytes, lymphs and monocytes in blood and marrow

Question 4

Alder-Reilly Anomaly

Answer 4

Enzyme deficiency leads to accumulation of polysaccharides
Mental deficiency and physical deformation

Very prominent and dark azurophil granulation in granulocytes