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

Indian J Pediatr. 2004 May;71(5):437-40. doi: 10.1007/BF02725636.

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 types

  • Case Reports

MeSH terms

  • Blood Chemical Analysis
  • Cardiomyopathy, Hypertrophic, Familial / complications*
  • Cardiomyopathy, Hypertrophic, Familial / diagnosis*
  • Cataract / complications*
  • Cataract / congenital*
  • Echocardiography
  • Electrocardiography
  • Follow-Up Studies
  • Humans
  • Infant
  • Male
  • Mitochondrial Diseases / diagnosis*
  • Risk Assessment
  • Severity of Illness Index
  • Syndrome