Gaucher Disease: A Case with Unexplained Splenomegaly

Abstract

A 5 years old male child presented with fever, repeated chest infection, short stature and developmental delay.On examination; he had massively enlarged spleen measuring 10 cm below left costal margin. He was advised bone marrow examination by pediatric consultant to find out the cause for splenomegaly. Bone marrow examination revealed hypercellular marrow with numerous mononuclear storage cells having fibrillary cytoplasm, morphologically resembling Gaucher cells. The bone marrow trephine biopsy also revealed heavy infiltration in the form of sheets of storage cells both interstitial and paratrabecular in distribution. These cells showed strong PAS positivity confirming the diagnosis of Gaucher disease....................................................................................................................................

Keywords

• enzyme replacement therapy, gaucher disease, glucoceribrosidase, splenomegaly.