மருத்துவ மற்றும் பரிசோதனை இருதயவியல்
திறந்த அணுகல்
ஐ.எஸ்.எஸ்.என்: 2155-9880
ஐ.எஸ்.எஸ்.என்: 2155-9880
Manjusha Hira* and Emmanuel Quist Therson
Sengers syndrome is a rare disorder that causes congenital cataract, hypertrophic cardiomyopathy (HOCM), skeletal myopathy and lactic acidosis. Hypertrophic cardiomyopathy is usually fatal in infancy. It is an autosomal recessive mitochondrial depletion disorder resulting from the mutation of acylglycerol kinase (AGK) gene. This nuclear gene is responsible for the maintenance of mitochondrial DNA (mDNA). We report a 4 month old boy who had severe lactic acidosis at birth and progressive congenital cataract. Cataract and failure to thrive were missed on his primary examination until he presented with a squint and subsequently with heart failure secondary to severe hypertrophic cardiomyopathy. His genetic testing revealed a novel putative homozygous splicing mutation of AGK gene leading to the diagnosis of Sengers syndrome. Uncertainty about the red reflex in non-Caucasian infants is common in primary examinations. Unexplained and persistent lactic acidosis at birth should not be discounted and should be followed up after discharge. Sengers syndrome should be considered as a differential diagnosis in babies who present with congenital cataracts especially if associated with lactic acidosis and later hypertrophic cardiomyopathy.