Cerebellar stroke in a young female associated with elevated homocysteine levels and heterozygous MTHFR <em style="mso-bidi-font-style: normal;">C677T</em> gene:  A case report.

Abstract

Homocysteine is an amino acid, which is an intermediate in the metabolism of methionine and cysteine. Elevated homocysteine levels are recognized as a cause for both arterial and venous thrombotic phenomena. Methylenetetrahydrofolatereductase -encoded by MTHFR gene- is the rate-limiting enzyme of the remethylation of homocysteine to methionine. Homozygous MTHFR T677T gene mutation can independently cause raised homocysteine levels and increase the risk of thrombosis whereas heterozygous MTHFR C677T gene mutation usually does with an acquired cause such as folate or vitamin B12 deficiency, and is with lesser risk for thrombosis. We report a case of a previously healthy 23-year-old female, who was excluded from other inherited and acquired thrombophilic conditions, but was found to be having heterozygous MTHFR C677T gene mutation and elevated level of homocysteine presented late with right cerebellar stroke. Therefore, when young patients present with thrombotic phenomena, homocysteine levels should be assessed in the absence of other common thrombophilic conditions.