title: Concomitant heterozygous factor V Leiden mutation and homozygous prothrombin gene variant (G20210A) in patient with cerebral venous thrombosis.
abstract: BACKGROUND
  Factor V Leiden mutation represents the most common genetic risk factor of venous thrombosis in Caucasian population. A common mutation in prothrombin gene, which is due to G-->A transition at position 20210, is also associated with elevated prothrombin concentration and thrombosis. Both this mutations may constitute concomitant risk factors for deep venous thrombosis.
  
  
  METHODS
  A 29-years old woman was admitted in the Emergency Department because of severe headache with vomiting that she suffered for a few days without any neurological deficits. In the Emergency she presented first in her life tonic-clonic seizures followed by right hemiparesis and aphasia and than was admitted to hospital. CT and MR scan showed a large lesion in the left fronto-parietal region with extent edema, which was first diagnosed as tumor. Following MR showed more lesions and typical signs of sinus thrombosis. She improved quickly after stroke without any anticoagulant treatment. Genetic study revealed factor V Leiden mutation and homozygous mutation G20210A in prothrombin gene.
  
  
  CONCLUSIONS
  Both mutations found in this case, alone, are not a high risk factors for venous thrombosis but together may increase 5-10 fold risk of venous thrombosis. Venous stroke must be considered always in acute neurological events with organic brain lesions, especially in young
authors.affiliation: 2nd Department of Neurology, Institute of Psychiatry and Neurology, Warsaw, Poland.
authors.forename: Iwona
authors.initials: I
authors.lastname: Kurkowska-Jastrzebska
authors.forename: Wojciech
authors.initials: W
authors.lastname: Wicha
authors.forename: Anatol
authors.initials: A
authors.lastname: Dowzenko
authors.forename: Barbara
authors.initials: B
authors.lastname: Vertun-Baranowska
authors.forename: Andrzej
authors.initials: A
authors.lastname: Pytlewski
authors.forename: Romana
authors.initials: R
authors.lastname: Bogusławska
authors.forename: Anna
authors.initials: A
authors.lastname: Członkowska
mesh_terms: D000328:Adult; D002550:Cerebral Veins; D005165:Factor V / Q000235:genetics*; D005260:Female; D014644:Genetic Variation; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D020767:Intracranial Thrombosis / Q000097:blood / Q000175:diagnosis / Q000235:genetics*; D009154:Mutation; D017354:Point Mutation; D011516:Prothrombin / Q000235:genetics*; D012307:Risk Factors
chemical_list: C095381:factor V Leiden; D005165:Factor V; D011516:Prothrombin