Homozygous prothrombin gene mutation and ischemic cerebrovascular disease: A case report and review of literature

This report describes a 32-year-old Saudi nonsmoker man who presented to the emergency department with a history of left-sided hemiparesis and no risk factors for cerebral stroke being reported, except type II diabetes mellitus. Magnetic resonance imaging (MRI) showed an ischemic stroke involving the right putamen and the posterior limb of the right internal capsule. During the hospitalization, he developed new weakness bilaterally, and repeat MRI showed infarctions involving both basal ganglia with a new acute infarct in the left putamen. The patient had normal laboratory hematological investigations; however, he was found to be homozygous for the G20210A mutation in the 3'-untranslated region of the prothrombin gene. In the absence of multiple risk factors that are usually related with cerebral stroke, the association between homozygous prothrombin gene mutation and cerebral stroke was suggested.