An Adolescent Ischemic Stroke Patient with Hyperhomocysteinemia, MTHFR 677TT and CBS 1080TT genotypes

J Korean Neurol Assoc > Volume 23(3); 2005 > Article

Journal of the Korean Neurological Association 2005;23(3): 382-385.

호모시스테인혈증과 MTHFR 677TT 및 CBS 1080TT 동형접합성 유전자 변이를 동반한 청소년 허혈성 뇌졸중 1예

이동헌, 박찬익 이일형 이재민 김서현 이지용 이성수 최병옥a

연세대학교 원주의과대학 신경과학교실, 이화여자대학교 의과대학 신경과학교실a

An Adolescent Ischemic Stroke Patient with Hyperhomocysteinemia, MTHFR 677TT and CBS 1080TT genotypes

Dong Hern Lee

Department of Neurology, Yonsei University Wonju College of Medicine, Wonju; Department of Neurology, Ewha Womans University College of Medicinea, Seoul, Korea

Abstract

Hyperhomocysteinemia is an independent risk factor for cerebrovascular disease. Hyperhomocysteinemia can be caused by the defect of the remethylation pathway including the 5,10-methylenetetrahydrofolate reductase (MTHFR) gene or the transsulfuration pathway including the cystathionine ß-synthase (CBS) gene of homocysteine metabolism. The major cause of severe hyperhomocysteinemia is CBS gene mutation. A 16-year-old male was admitted with vertigo. Brain MRI showed right cerebellar infarction. The plasma homocysteine level was 175 μmol/L. According to a genetic evaluation, the patient had the MTHFR 677TT and CBS 1080TT genotypes. KeyWords:Hyperhomocysteinemia, Cerebellar infarction