Gaucher′s disease type III C: Unusual cause of intracardiac calcification

Abstract

We report a case of intracardiac calcification associated with oculomotor apraxia and corneal deposits in a 12-year-old girl, who presented with dyspnea on exertion, sinusitis, and epistaxis since the age of 6 years. Unusual presentation with multiorgan involvement prompted us to evaluate her in terms of metabolic/storage disorder. The bone marrow aspirate confirmed the diagnosis of Gaucher′s disease.

Keywords

• Gaucher′s disease type III C
• intracardiac calcification
• oculomotor apraxia