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

Sejal Shah | Zendy; Amit Misri | Zendy; Meenakshi Bhat | Zendy; Sunita Maheshwari | Zendy

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

Author(s) -

Sejal Shah,

Amit Misri,

Meenakshi Bhat,

Sunita Maheshwari

Publication year - 2008

Publication title -

annals of pediatric cardiology

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.292

H-Index - 19

eISSN - 0974-2069

pISSN - 0974-5149

DOI - 10.4103/0974-2069.43883

Subject(s) - medicine , intracardiac injection , disease , presentation (obstetrics) , calcification , metabolic bone disease , pediatrics , surgery , pathology , osteoporosis

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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