Rare Case of Gaucher's Disease Presenting as a Solitary Swelling of the Proximal Tibia Mimicking a Musculoskeletal Tumor in an Adult: A Case Report.

Introduction: Gaucher's disease is a congenital lysosomal storage disorder caused by an autosomal recessive mutation in B-glucocerebrosidase. It is a multi-system disease, wherein patients present with hematological abnormalities, joint pain, osteonecrosis, and developmental delay. We present a case of 38-year-old male with a painless solitary soft-tissue swelling over the left proximal tibia, eventually diagnosed it to be a case of Gaucher's disease.