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Ann Pediatr Cardiol. 2008 Jul;1(2):144-6. doi: 10.4103/0974-2069.43883.

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

Author information

1
Department of Pediatric Cardiology, Narayana Hrudayalaya Institute of Medical Sciences, Bangalore, India.

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

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