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

Mehnaz Atiq; S Iqbal; S Ibrahim

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

Mehnaz Atiq
, S Iqbal
, S Ibrahim

Department of Paediatrics and Child Health, Division of Woman and Child Health, Medical College, Pakistan

Research output: Other contribution

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.

Original language	Undefined/Unknown
Publication status	Published - 1 May 2004

Publication series

Name	Department of Paediatrics and Child Health

Access to Document

http://ecommons.aku.edu/pakistan_fhs_mc_women_childhealth_paediatr/610

Cite this

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title = "Sengers disease: a rare association of hypertrophic cardiomyopathy and congenital cataracts",

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.",

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AU - Atiq, Mehnaz

AU - Iqbal, S

AU - Ibrahim, S

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N2 - 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.

AB - 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.

M3 - Other contribution

T3 - Department of Paediatrics and Child Health

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