title: Cerebral venous thrombosis associated with homozygous factor V Leiden mutation in a 15-year-old girl of Tunisian origin.
abstract: 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 (FII 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.
authors: Department of Hematology, Laboratory of Molecular Biology, Military Hospital, Tunis, Tunisia. olfaberrabah@yahoo.fr
authors: Olfa Ben
authors: OB
authors: Salem-Berrabah
authors: Nejiba
authors: N
authors: Fekih-Mrissa
authors: Samy
authors: S
authors: Laayouni
authors: Nasreddine
authors: N
authors: Gritli
authors: Ridha
authors: R
authors: Mrissa
mesh_terms: D000293:Adolescent; D000925:Anticoagulants / Q000008:administration & dosage; D001777:Blood Coagulation / Q000235:genetics; D025861:Blood Coagulation Disorders, Inherited / Q000097:blood / Q000175:diagnosis / Q000235:genetics; D003374:Coumarins / Q000008:administration & dosage*; D057915:Drug Substitution; D005165:Factor V; D005260:Female; D006493:Heparin / Q000008:administration & dosage*; D006720:Homozygote; D006801:Humans; D008279:Magnetic Resonance Imaging / Q000379:methods; D017354:Point Mutation; D012851:Sinus Thrombosis, Intracranial / Q000097:blood / Q000175:diagnosis / Q000209:etiology; D016896:Treatment Outcome
chemical_list: D000925:Anticoagulants; D003374:Coumarins; C095381:factor V Leiden; D005165:Factor V; D006493:Heparin