Cerebral venous thrombosis is a rare cerebrovascular disease that accounts for approximately 1% of strokes, with an incidence of 3-4 cases / million inhabitants per year, with a significant mortality rate of 10-13%. Pregnancy and puerperal period are physiological states that predispose to thrombosis through hypercoagulability due to hormonal change. These alterations occur in blood flow, vascular wall and clotting factors and while superimposed on a genetically predisposing field, create the optimal conditions for the occurrence of embolic phenomena. Here we present the case of a young, secondipara woman with recurrent thrombotic events, even under optimal anticoagulation therapy, where the extensive laboratory investigations identified the predisposing terrain: the heterozygous mutation of the MTHFR A1289C gene.
Keywords: MTHFR A1289C; cerebral venous thrombosis; pregnancy; thrombophilia.