A Case of Homocystinuria Complicated with Systemic Deep Vein Thrombosis and Venous Infarction of Thalamus.
- Author:
Ju Hyung KANG
1
;
Nam Hyang KOO
;
Sung Hwan KIM
;
Jae Hyun CHO
;
Sun Yong KIM
Author Information
1. Department of Pediatrics, Ajou University School of Medicine, Suwon, Korea. pedkim@madang.ajou.ac.kr
- Publication Type:Case Report
- Keywords:
Homocystinuria;
Cystathione-beta-synthase;
Thromboembolic vascular events
- MeSH:
Adolescent;
Cerebral Infarction;
Cerebral Veins;
Child;
Ectopia Lentis;
Female;
Homocystinuria*;
Humans;
Infarction*;
Intellectual Disability;
Korea;
Metabolism;
Methionine;
Mortality;
Myocardial Infarction;
Pulmonary Embolism;
Stroke;
Thalamus*;
Thrombosis;
Venous Thrombosis*;
Young Adult
- From:
Journal of the Korean Child Neurology Society
2002;10(2):344-350
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
Homocystinuria is an autosomal recessive inherited disorder of methionine metabolism. The most common cause of homocystinuria is cystathione-beta-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.
