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?
A) Niemann-Pick disease
B) Gaucher's disease
C) Tay-Sachs disease
D) Sandhoff disease

Question

Quizplus · Accepted Answer

The presence of large macrophages with small eccentric nuclei and cytoplasm with a wrinkled appearance (called Gaucher cells) along with splenomegaly, bone pain, leukopenia, thrombocytopenia, and anemia suggests Gaucher's disease, a lysosomal storage disorder caused by deficiency of glucocerebrosidase enzyme, leading to accumulation of glucocerebroside in macrophages. Niemann-Pick disease and Tay-Sachs disease also involve lysosomal storage disorders, but their clinical presentations and laboratory findings differ from Gaucher's disease. Sandhoff disease is a variant of Tay-Sachs disease.

A Patient Presents with Splenomegaly and Bone Pain