Gaucher disease type 1: Unexpected diagnosis in a 75-year old patient presenting with splenomegaly

Abstract

We present a 75-year old Korean female patient harboring novel hemizygous variant mutation in glucosidase beta acid (GBA) gene, who was diagnosed with splenic marginal zone cell lymphoma and Gaucher disease (GD) concurrently. Our case is significant in that (1) it delivers the message that GD can occur at any age regardless of ethnicity and (2) we report a novel variant of pathogenic GBA mutation, and the fact that the patient harbored hemizygous mutation.