Open AccessGaucher′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.