Factor V Leiden and prothrombin gene G20210A mutation in children with cerebral thromboembolism.
We investigated whether there is an association between factor V Leiden (FVL) and/or prothrombin gene G20210A mutation (PT20210A) and cerebral thromboembolism in a pediatric Argentinean population. From May 1992 to January 2002, 44 consecutive children with arterial ischemic stroke (AIS) and 23 children with cerebral sinovenous thrombosis (SVT) were prospectively studied at a single center. The prevalence of both mutations was compared with a 102 age-matched controls. In children with AIS, the frequencies (patients vs. controls), odds ratio (OR), and 95% confidence interval (95% CI) for the presence of FVL were as follows: 2.3% vs. 2%, OR/95% CI, 1.16/0.2 to 13.2; P value = 0.99. No cases of PT20210A were found in this group. In children with SVT, the frequencies (patients vs. controls), OR, and 95% CI were as follows: FVL (4.3% vs. 2%, OR/95% CI, 2.27/0.22 to 6.2; P value = 0.99) and PT20210A (4.3% vs. 1%; OR/95% CI, 4.6/0.3 to 76.3; P value = 0.3354). One child with PT20210A also had an inherited protein C deficiency. In 12 (18%) out of the 67 children with cerebral thromboembolism, without the aforementioned mutations, other prothrombotic disorders were detected. Although a multi-center prospective study with a large number of Argentinean pediatric patients is needed to obtain considerable evidence, no association between factor V Leiden and/or prothrombin gene G20210A mutation and cerebral thromboembolism was found in this pediatric series.
Bonduel
Mariana
M
Servicio de Hematología-Oncología, Hospital de Pediatría Prof. Dr. Juan P. Garrahan, Buenos Aires, Argentina. mbonduel@garrahan.gov.ar
Sciuccati
Gabriela
G
Hepner
Mirta
M
Pieroni
Graciela
G
Torres
Aurora Feliú
AF
Mardaraz
Claudia
C
Frontroth
Juan Pablo
JP
D000293:Adolescent; D002545:Brain Ischemia / Q000150:complications; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D005165:Factor V / Q000032:analysis*; D005260:Female; D005787:Gene Frequency; D006801:Humans; D007223:Infant; D002542:Intracranial Embolism and Thrombosis / Q000235:genetics*; D008297:Male; D009154:Mutation; D011446:Prospective Studies; D011516:Prothrombin / Q000235:genetics*; D012851:Sinus Thrombosis, Intracranial / Q000235:genetics; D020521:Stroke / Q000209:etiology / Q000235:genetics
C095381:factor V Leiden; D005165:Factor V; D011516:Prothrombin