Answer: Gaucher Disease

Histology: The normal constituents of the spleen are extensively replaced by cells with abundant pale somewhat granular cytoplasm. A Ziehl-Neelsen stain for acid fast bacilli and immunostains for the organism that causes Whipple disease (Tropheryma whippelii) were negative.

Discussion: Gaucher disease is an autosomal recessive disorder caused by inherited mutations in the gene for glucocerebrosidase. Glucocerebrosidase normally functions to remove a glucose from ceramide. Loss of glucocerebrosidase function in turn leads to the accumulation of glucocerebroside in phagocytic cells in the spleen, liver and bone marrow, lymph nodes, and other organs. The central nervous system is rarely involved (called type II when there is CNS involvement).

By light microscopy, the Gaucher cells have abundant vacuolated cytoplasm with a “tissue paper” appearance.