Concomitant heterozygous factor V Leiden mutation and homozygous prothrombin gene variant (G20210A) in patient with cerebral venous thrombosis.

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. CASE REPORT: 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

Leukoaraiosis and stroke outcome.

We studied the influence of leukoaraiosis on the prognosis of stroke for the first year after onset. Three hundred and seventy consecutive stroke subjects were observed for 1 year. Data were collected prospectively in a questionnaire constructed in accordance with the Stroke Data Bank and analyzed using SPSS. Leukoaraiosis was observed in 17.6% of subjects. Subjects with leukoaraiosis were older than subjects without leukoaraiosis. Cerebrovascular risk factors were similar in both groups. During the first 30 days, the fatality rate of both groups was similar. However, at 1 year, the fatality rate in subjects with leukoaraiosis was higher. Stroke Severity, Weakness Score, and the Barthel Modified Activities for Daily Living score did not differ between groups at 30 days or 1 year. At both 30 days and 1 year, the MMSE score was lower in subjects with leukoaraiosis. Leukoaraiosis did not predict stroke recurrence within 1 year. Leukoaraiosis in stroke patients is an adverse predictor of cognitive functioning at 30 days and at 1 year and is an adverse predictor of survival at 1 year.