Ischaemic stroke in infancy and childhood: role of the Arg506 to Gln mutation in the factor V gene.

Dahlbäck et al. recently described in vitro resistance to the anticoagulant response of activated protein C (APC), in the majority of cases associated with the Arg506 to Gln point mutation in the factor V gene in thrombophilic patients. To determine to what extent this common gene mutation affects the risk of childhood stroke, its occurrence was prospectively investigated in a population of children with ischaemic stroke. Over a 2-year period the Arg506 to Gln mutation, factor V, protein C, protein S, antithrombin, antiphospholipid antibodies and lipoprotein (a) [Lp(a)] were measured in 14 infants and children with acute ischaemic stroke. Heterozygous factor V Leiden mutation (n = 4), homozygous factor V Leiden mutation (n = 1), protein C deficiency type I (n = 3) and increased Lp(a) (n = 2) were diagnosed in the children investigated. Seven of 14 patients showed an underlying disease and additionally risk factors were present in nine of 14 children. Data of this study indicate that deficiencies in the protein C anticoagulant pathway play an important role in the aetiology of childhood stroke. However, additional triggering factors may promote early manifestation of thromboembolism in children with inherited defects of clotting inhibitors.