Sengers disease: a rare association of hypertrophic cardiomyopathy and congenital cataracts
Paediatrics and Child Health
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.
Indian Journal of Pediatrics
(2004). Sengers disease: a rare association of hypertrophic cardiomyopathy and congenital cataracts. Indian Journal of Pediatrics, 71(5), 437-440.
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