시상의 정맥성 뇌경색과 전신성 심부정맥 혈전증을 동반한 호모시스틴뇨증 1례

A Case of Homocystinuria Complicated with Systemic Deep Vein Thrombosis and Venous Infarction of Thalamus

저자들은 양측 시상의 정맥성 뇌경색과 전신성 심부정맥 혈전증이 동반된 호모시스틴뇨증 증례를 국내에서 처음 경험하였기에 이를 문헌 고찰과 함께 보고하며, 호모시스틴뇨증은 조기발견 및 치료로 혈관계 합병증을 줄일 수 있다는 점에서 소아를 포함한 청소년 연령에서 혈전색전증이 발생한 경우 항상 호모시스틴뇨증의 가능성을 고려하여야 한다는 점을 강조한다.

Homocystinuria is an autosomal recessive inherited disorder of methionine metabolism. The most common cause of homocystinuria is cystathione-β-synthase deficiency, which has the characteristic clinical features such as ectopia lentis, Marfanoid skeletal changes, mental retardation, and vascular thromboembolic events such as deep vein thrombosis, cerebral infarction, pulmonary embolism, and myocardial infarction. The thromboembolic vascular events occur in 20-50% of untreated patients with homocystinuria at the age of 15, and could be associated with vasculopathy related mortality in 20% of untreated patients before the age of 30. Therefore, homocystinuria is one of the important cause of stroke in children and young adults. Only 2 cases of homocystinuria were reported in Korea; one without vasculopathy and the other with cerebral infarction. Homocystinuria complicated with systemic deep vein thrombosis is first reported in Korea. We report a 13 year old female with homocystinuria complicated with severe systemic deep vein thrombosis and venous infarction of both thalami due to thrombosis of vein of Galen and internal cerebral vein.