Association between factor V Leiden mutation and the hemiconvulsion, hemiplegia, and epilepsy syndrome: report of two cases.
The factor V Leiden mutation is the most common hereditary cause of venous thrombosis in our population. In the pediatric population, it has been associated with cerebrovascular thrombosis, cerebral palsy, and prosencephaly in neonates. We present two children with hemiconvulsion, hemiplegia, and epilepsy syndrome in whom the cause is likely attributable to the factor V Leiden mutation. We suggest that patients presenting with hemiconvulsion, hemiplegia, and epilepsy syndrome should be routinely investigated for factor V Leiden, and, if positive, careful consideration should be given to therapeutic and prophylactic anticoagulation as this may improve long-term outcome.
Scantlebury
Morris H
MH
Department of Paediatrics, Hôpital Ste-Justine, Université de Montréal, Quebec.
David
Michèle
M
Carmant
Lionel
L
D000293:Adolescent; D002561:Cerebrovascular Disorders / Q000175:diagnosis / Q000235:genetics; D002675:Child, Preschool; D004827:Epilepsy / Q000235:genetics*; D005165:Factor V / Q000235:genetics*; D005260:Female; D006429:Hemiplegia / Q000235:genetics*; D006801:Humans; D017354:Point Mutation; D012640:Seizures / Q000235:genetics*; D013577:Syndrome
C095381:factor V Leiden; D005165:Factor V