title: Inherited and acquired risk factors and their combined effects in pediatric stroke.
abstract: The aim of this study was to identify hereditary and acquired risk-factors as they are related to the occurrence of stroke in children. We identified 21 children with stroke. A search of the Factor V Leiden mutation, the Factor II G20210A variant, and the thermolabile variant of methylenetetrahydrofolate reductase was performed in patients and in a control group (n = 115). We identified risk factors of acquired and/or hereditary nature for stroke in 19 of 21 children. Eleven children had three or more risk factors, seven had two risk factors, and one child had only one risk factor. We found three carriers (14.3%) of the Factor V Leiden mutation, two carriers (9.5%) of the Factor II G20210A variant, eleven (52.4%) thermolabile variant of methylenetetrahydrofolate reductase heterozygote carriers, and one (4.8%) homozygotes for this variant. Frequencies of the Factor V Leiden mutation and the Factor II variant were higher in patients than in controls, suggesting that these variants are associated with an increased risk of stroke in childhood. Homozygosity for the thermolabile variant of methylenetetrahydrofolate reductase was equally frequent amongst patients and controls. Our study confirms that stroke in children is commonly associated with a combination of multiple risk factors, both genetic and acquired, and that the Factor V Leiden mutation and the Factor II G20210A variant are predisposing factors for this situation.
authors.affiliation: Serviço de Neuropediatria, Hospital de Crianças Maria Pia, Porto, Portugal.
authors.forename: Sameiro
authors.initials: S
authors.lastname: Barreirinho
authors.forename: Anabela
authors.initials: A
authors.lastname: Ferro
authors.forename: Manuela
authors.initials: M
authors.lastname: Santos
authors.forename: E lísio
authors.initials: El
authors.lastname: Costa
authors.forename: Jorge
authors.initials: J
authors.lastname: Pinto-Basto
authors.forename: Alda
authors.initials: A
authors.lastname: Sousa
authors.forename: Jorge
authors.initials: J
authors.lastname: Sequeiros
authors.forename: Patricia
authors.initials: P
authors.lastname: Maciel
authors.forename: Clara
authors.initials: C
authors.lastname: Barbot
authors.forename: José
authors.initials: J
authors.lastname: Barbot
mesh_terms: D017152:Antibodies, Antiphospholipid / Q000097:blood; D000925:Anticoagulants / Q000627:therapeutic use; D002648:Child; D005165:Factor V / Q000235:genetics; D005260:Female; D020022:Genetic Predisposition to Disease / Q000453:epidemiology; D005838:Genotype; D006493:Heparin / Q000627:therapeutic use; D006801:Humans; D008297:Male; D010975:Platelet Aggregation Inhibitors / Q000627:therapeutic use; D017354:Point Mutation; D011516:Prothrombin / Q000235:genetics; D012008:Recurrence; D012307:Risk Factors; D020521:Stroke / Q000188:drug therapy / Q000453:epidemiology* / Q000235:genetics*
chemical_list: D017152:Antibodies, Antiphospholipid; D000925:Anticoagulants; D010975:Platelet Aggregation Inhibitors; C095381:factor V Leiden; D005165:Factor V; D011516:Prothrombin; D006493:Heparin