A patient presents with splenomegaly and bone pain.Laboratory findings reveal large macrophages with small eccentric nuclei, and cytoplasm with a wrinkled appearance.
Further testing shows leukopenia, thrombocytopenia, and anemia.What is the probable
Cause?

Question

Quizplus · Accepted Answer

The symptoms described are characteristic of Gaucher's disease, a lysosomal storage disorder where there is a buildup of glucocerebroside. Splenomegaly is a common finding, and bone pain may be due to osteopenia or osteoporosis. Large macrophages with small eccentric nuclei and wrinkled cytoplasm, called Gaucher cells, are typically present. Leukopenia, thrombocytopenia, and anemia may also occur as a result of splenic sequestration and bone marrow infiltration. Niemann-Pick disease, Tay-Sachs disease, and Sandhoff's disease can also cause macrophage accumulation, but they do not typically present with bone pain or splenomegaly.

A Patient Presents with Splenomegaly and Bone Pain