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

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.