A Case of Cerebellar Hemorrhage Associated with Hyperhomocysteinemia

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.