Anaesthesia Management of a Young Patient with Homocystinuria

Abstract

Homocystinurea is a rare autosomal recessive genetic disease. It is caused by deficiency in cystathionine-beta synthase leading to defect in methionine metabolism. HIGH LEVEL of plasma homocysteine are associated with vascular injury via mechanism of oxidative damage. Vascular smooth muscle proliferation, promotion of platelet activation and aggregation and disruption of normal procoagulant-anticoagulant balance favoring thrombosis. This is a case of seventeen-year-old girl. Known case of homocystinurea who scheduled for cataract surgery for her dislocated lens. The major anesthetic consideration includes the development of thromboembolism, need to avoid nitrous oxide in balance anesthesia and avoid dehydration, long fasting, hypoglycemia.