Cerebral venous sinus thrombosis in infancy and childhood: role of genetic and acquired risk factors of thrombophilia

Over a 3 year period the R506Q mutation in the factor V (FV) FV:Q506 gene, FV, factor XII (FXII), prothrombin, protein C, protein S, antithrombin, heparin cofactor II, anticardiolipin antibodies and lipoprotein (a) (Lp(a)) were measured in 32 infants and children with sinus thrombosis. Heterozygous FV:Q506 (n= 5), homozygous FV:Q506 (n= 2), homozygous FXII deficiency (n= 1), protein C deficiency type I (n= 5), protein C deficiency type II (n=1), antithrombin deficiency type I (n = 1) increased Lp (a) (n=5), activated protein C-resistance without mutation in the FV gene (n= 2), and increased anticardiolipin IgG antibodies (n= 2) were diagnosed in the children investigated. In a further two patients we found combinations of increased Lp(a) with moderate hyperhomocystinaemia and heterozygous plasminogen deficiency with heterozygous FXII deficiency. In addition, increased anticardiolipin IgG antibodies were found in combination with heterozygous FV:Q506 (n= 1) and protein C type I deficiency (n= 2) respectively. Out of 32 patients with venous sinus thrombosis, 3 showed additional peripheral venous vascular occlusion. Contributing factors were present in 31 out of 32 patients investigated. Family members of 10 affected children had suffered from venous thrombo-embolism prior to the study. Conclusion Our data suggest that additional contributing factors may promote manifestation of cerebral venous sinus thrombosis in infants and children with an inherited prothrombotic state. Further prospective studies are required to evaluate their potential role as “triggering” agents.