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Case 246 - Discussion

Uploaded: 2011-12-12, Updated: 2011-12-12

 

Gaucher Disease

  • Most common lipid storage disease
  • Glucocerebrosidase deficiency
  • Accumulate glucocerebroside in macrophages of spleen, liver, bone marrow, lymph nodes, lung and brain.
  • Hepatosplenomegaly,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"