Title

Sengers disease: a rare association of hypertrophic cardiomyopathy and congenital cataracts

Document Type

Report

Department

Paediatrics and Child Health

Abstract

Hypertrophic cardiomyopathy is an uncommon childhood cardiac disease and can be primary or secondary. Several systemic diseases are known to be associated with this entity. Senger's disease is a mitochondrial disorder causing congenital cataracts lactic acidosis and skeletal and cardiac myopathy. Diagnosis should be kept in mind when routine neonatal eye screening reveals absent red reflex. The authors report a case of Sengers disease and discuss the underlying pathogenetic mechanisms.

Publication

Indian Journal of Pediatrics

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