Cerebral venous thrombosis associated with homozygous factor V Leiden mutation in a 15-year-old girl of Tunisian origin

Cerebral venous thrombosis [CVT] is a rare disease. It has numerous and complex etiologies. Inherited or acquired prothrombotic states play a key role in the development of this disease, such as factor V G1691A mutation [FV Leiden]. A 15-year-old girl presented to the Department of Neurology with a complaint of severe headache with visual blurring. The diagnosis of CVT was not initially suspected because of the patient's condition on presentation. An MRI showed thrombosis in the superior sagittal sinus, confirming venous stroke. Anticardiolipin and antiphospholipid antibodies were assessed. In addition, inherited prothrombotic defects, such as protein C, protein S, and antithrombin deficiencies, and genetic mutations for FV Leiden, prothrombin gene G20210A [Fll G20210A], and methyltetrahydrofolate reductase C677T [MTHFR C677T] were studied. All results were unremarkable except for the unique homozygous FV Leiden mutation, which likely contributed to this prothrombotic situation. This study highlights the fact that FV Leiden may play a significant role in the onset of CVT in young patients

Hyperhomocysteinemia, C677T MTHFR polymorphism and ischemic stroke in Tunisian patients

Hyperhomocysteinaemia has been identified as a strong risk factor for ischemic stroke [IS]. A point mutation in methylene tetrahydrofolate reductase [MTHFR C677T] has been associated with increased plasma homocysteine [Hcy] levels. This preliminary study aimed to investigate whether hyperhomocysteinaemia and/or MTHFR C677T mutation are associated with ischemic stroke. A case-control study including 50 consecutive patients with confirmed IS and 97 controls was performed. Fasting plasma homocysteine levels, MTHFR C677T genotypes were assessed. Other factors such as hypertension, obesity, dyslipidemia, diabetes mellitus, recurrent stroke tobacco and alcohol were investigated. Mean plasma homocysteine levels were significantly higher in IS patients than in controls [15.83 +/- 10.60] micro mol/L vs 13,78 +/- 6.29 micro mol/L, p=0.04], while no association of MTHFR C677T variant was observed even with homocysteine. The risk to develop ischemic stroke in hyperhomocysteinemic subjects was 2.4 times more than in subjects with normal Hcy levels [OR= 2.4; 95% CI: 1.13-5.06; p<0.05]. Our findings suggest that high levels of homocysteine but not MTHFR C677T polymorphism represent risk factors for arterial ischemic stroke in Tunisian subjects