An unusual presentation of metabolic cardiomyopathy due to Pompe's disease

An Omani infant boy who presented in the neonatal period with cardiac failure secondary to hypertrophic cardiomyopathy is reported. He subsequently progressed to show features of a metabolic disorder with multisystem involvement and was diagnosed to have Type II glycogenosis (Pompe's disease)....

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Veröffentlicht in:	Saudi medical journal 2002-03, Vol.23 (3), p.338-340
Hauptverfasser:	VENUGOPALAN, Poothirikovil, AHMED, Shakeel, RAO, Vasudev T, AL-HINAI, Khalid M
Format:	Artikel
Sprache:	eng
Schlagworte:	Biological and medical sciences Carbohydrates (enzymatic deficiencies). Glycogenosis Cardiomyopathy, Hypertrophic - diagnostic imaging Cardiomyopathy, Hypertrophic - etiology Errors of metabolism Fatal Outcome Glycogen Storage Disease Type II - complications Glycogen Storage Disease Type II - pathology Humans Infant Male Medical sciences Metabolic diseases Tropical medicine Ultrasonography
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Zusammenfassung:	An Omani infant boy who presented in the neonatal period with cardiac failure secondary to hypertrophic cardiomyopathy is reported. He subsequently progressed to show features of a metabolic disorder with multisystem involvement and was diagnosed to have Type II glycogenosis (Pompe's disease). The differential diagnosis and management of metabolic cardiomyopathy are outlined.
ISSN:	0379-5284