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:Q(506) gene, FV, factor XII (FXII), prothrombin, protein C, protein S, antit hrombin, heparin cofactor II, anticardiolipin antibodies and lipoprote in (a) (L-P(a)) were measured in 32 infants and children with sinus th rombosis. Heterozygous FV:Q(506) (n = 5), homozygous FV:Q(506) (n = 2) , homozygous FXII deficiency (n = 1), protein C deficiency type I (n = 5), protein C deficiency type II (n = 1), antithrombin deficiency typ e I (n = 1) increased Lp (a) (n = 5), activated protein C-resistance w ithout mutation in the FV gene (n = 2), and increased anticardiolipin IgG antibodies (I? = 2) were diagnosed in the children investigated. I n 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 anticardiol ipin IgG antibodies were found in combination with heterozygous FV:Q(5 06)(n = 1) and protein C type I deficiency(n = 2) respectively. Out of 32 patients with venous sinus thrombosis, 3 showed additional periphe ral venous vascular occlusion. Contributing factors were present in 31 out of 32 patients investigated. Family members of 10 affected childr en had suffered from venous thrombo-embolism prior to the study. Concl usion Our data suggest that additional contributing factors may promot e manifestation of cerebral venous sinus thrombosis in infants and chi ldren with an inherited prothrombotic state. Further prospective studi es are required to evaluate their potential role as ''triggering'' age nts.