Intra-operative detection of carotid free-floating thrombus in a symptomatic patient with a methylenetetrahydrofolate reductase gene mutation. Case report and literature review

摘要

A 48-year-old man was admitted to the Stroke Unit because of an acute onset of moderate weakness at left limbs. The patient was a moderate smoker and hypercholesterolemic. An urgent brain CT scan was normal, while a color duplex ultrasound (US) and a CT scan angiography of extracranial arteries showed a subocclusive stenosis of right internal carotid bifurcation and the presence of a 2-cm length plaque. Blood samples and pro-coagulant and subsequent genetic tests showed mild hypercholesterolemia, hyperhomocysteinemia, and a homozygous mutation for MTHFR A1298C polymorphism. Patients started immediately antiplatelet therapy (ASA 300 mg daily) and folic acid associated to pyridoxine.