Anaesthetic management of a young patient with homocystinuria.

Abstract

Homocystinuria is a rare autosomal recessive genetic disease. It is caused by a deficiency in cystathionine-b-synthase leading to a defect in methionine metabolism. High levels of plasma homocysteine are associated with vascular injury via mechanisms of oxidative damage, vascular smooth muscle proliferation, promotion of platelet activation and aggregation,and disruption of normal procoagulant-anticoagulant balance favouring thrombosis. This is a case of 8 years old boy, a known case of homocystinuria, who was scheduled for bilateral lensectomy and intraocular lens placement. The major anaesthetic considerations include the development of thromboembolism, need to avoid nitrous oxide in balanced anaesthesia regimen and hypoglycaemia.