A Case of Cerebellar Hemorrhage Associated with  Hyperhomocysteinemia

J Korean Neurol Assoc > Volume 17(3); 1999 > Article

Journal of the Korean Neurological Association 1999;17(3): 407-411.

고호모시스테인증과 동반된 소뇌출혈 1례

홍석찬, 안재영, 조수진, 정진상, 이광호, 홍승철*, 변홍식

성균관대학교 삼성의료원 신경과, 신경외과*, 진단방사선과**

A Case of Cerebellar Hemorrhage Associated with Hyperhomocysteinemia

Seok-Chan Hong, Jae-Young Ann, Soo-Jin Cho, Chin-Sang Chung, Kwang-Ho Lee, Seung?Chuyl Hong*, Hong-Sik Byun**

Department of Neurology, Samsung Medical Center, College of Medicine, Sungkyunkwan University, 50, Ilwon-dong, Kangnam-ku, Seoul, 135-710, Korea

Abstract

Hyperhomocysteinemia has recently been identified as an important risk factor for atherosclerotic vascular disease. Genetic aberrations in methylenetetrahydrofolate reductase (MTHFR) may account for reduced enzyme activity and elevated plasma homocysteine level. A recent report revealed that a common mutation (677C to T; Alanine to Valine) in the MTHFR gene was associated with decreased specific MTHFR activity in the homozygous state (Val/Val). A case was presented of a woman who had a cerebellar hemorrhage at age 38. It was discovered that she had a diffuse narrow-ing of the left sigmoid sinus and jugular bulb. Well developed cortical vein collateralization suggested a partial recanal-ization after occlusion of sigmoid sinus. There was a severe focal stenosis in the left proximal carotid artery. Widely accepted risk factors for atherosclerotic disease including hypertension, diabetes, hypercholesterolemia, tobacco use and so on were not found. After an extensive evaluation, she was found to have a Val/Val homozygous state of the MTHFR gene as the cause of hyperhomocysteinemia. J Kor Neurol Ass 17(3):407 ~ 411, 1999 Key Words : Hyperhomocysteinemia, Homocysteine, Methylenetetrahydrofolate reductase (MTHFR)