Factor V Leiden, prothrombin 20210 G -> A and the MTHFR C677T mutations inchildhood stroke

Ischaemic stroke is a rare occurrence in children and in a proportion of ca ses the aetiology remains unknown. We have investigated the role of thrombo philia in the aetiology of this condition. Of 50 cases identified at two ce ntres, 37 were available for detailed haematological analysis. No cases wer e identified with deficiencies of antithrombin, protein C or protein S. One case had elevated IgG anticardiolipin antibodies at low titre. The prevale nce of the prothrombin 20210 G --> A mutation, factor V Leiden (FVL) mutati on and the C677T mutation in the MTHFR gene was compared in cases to that o bserved in random unselected cord blood controls. The odds ratio for stroke was not significantly increased ill carriers of the prothrombin mutation ( OR 1.2; 95% CI 0.1-10.7), FVL (OR 2.5; 95% CI 0.5-13.5), or the C677T mutat ion (OR 1.7; 95% CI 0.6-4.5). Our findings suggest that thrombophilia may n ot play a significant role in the aetiology of stroke in children, although a large prospective study is required to investigate this area further.