An Adolescent Ischemic Stroke Patient with Hyperhomocysteinemia, MTHFR 677TT and CBS 1080TT genotypes.
- Author:
Dong Hern LEE
1
;
Chan Ik PARK
;
Il Hyung LEE
;
Jae Min LEE
;
Seo Hyun KIM
;
Ji Yong LEE
;
Sung Soo LEE
;
Byung Ok CHOI
Author Information
1. Department of Neurology, Yonsei University Wonju College of Medicine, Wonju, Korea.
- Publication Type:Case Report
- Keywords:
Hyperhomocysteinemia;
Cerebellar infarction
- MeSH:
Adolescent*;
Brain;
Cystathionine beta-Synthase;
Genotype*;
Homocysteine;
Humans;
Hyperhomocysteinemia*;
Infarction;
Magnetic Resonance Imaging;
Male;
Metabolism;
Oxidoreductases;
Plasma;
Risk Factors;
Stroke*;
Vertigo
- From:Journal of the Korean Neurological Association
2005;23(3):382-385
- CountryRepublic of Korea
- Language:Korean
-
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 beta-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 mocro mol/L. According to a genetic evaluation, the patient had the MTHFR 677TT and CBS 1080TT genotypes.
