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


Departments of Pediatric Cardiology and Genetics, Narayana Hrudayalaya Institute of Medical Sciences, Bangalore, India

Correspondence Address:
Sejal Shah
Department of Pediatric Cardiology, Narayana Hrudayalaya Institute of Medical Sciences, 258/A, Bommasandra Industrial Area, Anekal Taluk, Bangalore - 560099
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0974-2069.43883

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Year : 2008  |  Volume : 1  |  Issue : 2  |  Page : 144-146

 

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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.






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Departments of Pediatric Cardiology and Genetics, Narayana Hrudayalaya Institute of Medical Sciences, Bangalore, India

Correspondence Address:
Sejal Shah
Department of Pediatric Cardiology, Narayana Hrudayalaya Institute of Medical Sciences, 258/A, Bommasandra Industrial Area, Anekal Taluk, Bangalore - 560099
India
Login to access the Email id

Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0974-2069.43883

Rights and Permissions

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.






[FULL TEXT] [PDF]*


        
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