Gaucher disease diagnosed after bone marrow trephine biopsy — a report of two cases

Abstract

The hematologist is at the forefront of specialists to whom patients with Gaucher disease presentbecause of cytopenia and hepatosplenomegaly. Usually, patients with such symptoms have undergone trephinebiopsy. We present the cases of two patients in whom Gaucher disease was suspected because of the discovery ofGaucher cells in trephine biopsy, and subsequently confirmed via enzymatic and molecular investigations.

Keywords

• hepatosplenomegaly
• trephine biopsy
• Gaucher disease