- Most common lipid storage disease
- Glucocerebrosidase deficiency
- Accumulate glucocerebroside in macrophages of spleen, liver,
bone marrow, lymph nodes, lung and brain.
- Hepatosplenomegaly and pancytopenia due to hypersplenism
- “Wrinkled tissue paper” cytoplasm
- Differential diagnosis: Niemann-Pick Disease
- Sphingomyelinase deficiency
- Sphingomyelin accumulates in macrophages and neurons
- Organs most severely affected: brain, spleen, liver, bone
marrow, lymph nodes, lungs
- Foamy cytoplasm, in stead of "wrinkled tissue paper"
- EM: "Zebra body"