ISSN - 0973-0958
   
 
Valvular Heart Disease in Classic Homocystinuria - A rare presentation
Chanchal Kumar Kundu1, Radhabinod Paul1, Malay Kumar Sinha1, Jayanto De2.
1Department of Pediatrics, Medical College and Hospital, Kolkata, India, 2Department of Biochemistry, Medical College and Hospital, Kolkata, India.
 
Abstract

Homocystinuria is a rare metabolic disease affecting at least 1 per 200,000-335,000 people worldwide. Here we present a child with moderate mental retardation (Intelligence quotient 35-40), severe myopia due to lenticular dislocation and symptomatic valvular heart disease in absence of marfanoid habitus. Metabolic workup such as positive urinary cyanide nitroprusside test and serum level of elevated homocystine and methionine was diagnostic of classic homocystinuria due to cystathionine beta synthase deficiency. CT scan brain showed diffuse cerebral atrophy and echocardiography established an unreported finding of valvular aortic regurgitation. Dramatic clinical improvement was noticed after 6 months with pyridoxine therapy. The unique presence of valvular heart disease in classic homocystinuria emphasizes a detail cardiovascular screening in these children and also it unleashes a new aspect of this metabolic disease.

Abbreviations: CBS- cystathionine beta synthase, MTHR- methyl tetrahydrofolate reductase, IQ- intelligence quotient, CDC- Centre for Disease Control
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