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

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 ter...

Full description

Saved in:

Bibliographic Details
Published in:	Annals of pediatric cardiology Vol. 1; no. 2; pp. 144 - 146
Main Authors:	Shah, Sejal, Misri, Amit, Bhat, Meenakshi, Maheshwari, Sunita
Format:	Journal Article
Language:	English
Published:	India Medknow Publications and Media Pvt. Ltd 01-07-2008 Medknow Publications & Media Pvt. Ltd Medknow Publications
Subjects:	Bone marrow Calcification Case Report Case studies Causes of Complications and side effects Development and progression Diagnosis Gaucher's disease Health aspects Heart attacks Heart diseases Metabolic disorders Mutation Pulmonary arteries Veins & arteries United States intracardiac calcification oculomotor apraxia Gaucher's disease type III C
Online Access:	Get full text
Tags:	Add Tag No Tags, Be the first to tag this record!

Description
Summary:	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.
ISSN:	0974-2069 0974-5149
DOI:	10.4103/0974-2069.43883