Gaucher’s disease is a common storage disorder but rare entity: Two case report

Abstract

Gaucher's disease is a rare, inherited autosomal recessive metabolic disorder due to deficiency of enzyme Glucocerebrosidase resulting in deposition of glucosylceramide. Deposition of glucosylceramide in different organs causes dysfunction and is responsible for specific systemic symptoms and signs. In the present cases, the first case was a 24-year-old female who presented with severe weakness with abdominal fullness due to massive splenomegaly. The unicity of the case was anti-nuclear antibody positivity. Although clinical signs and symptoms were classical in this case. The second case was a 20-year-old male who was already diagnosed case of Gaucher's disease but the only complaint was abdominal fullness due to massive splenomegaly. Special stains were play a tremendous role to highlighting Gaucher's cells.