TY - JOUR T1 - Factor V Leiden and genetic defects of thrombophilia in childhood porencephaly JF - Archives of Disease in Childhood - Fetal and Neonatal Edition JO - Arch Dis Child Fetal Neonatal Ed SP - F121 LP - F124 DO - 10.1136/fn.78.2.F121 VL - 78 IS - 2 AU - Otfried Debus AU - Hans Georg Koch AU - Gerhard Kurlemann AU - Ronald Sträter AU - Heinrich Vielhaber AU - Peter Weber AU - Ulrike Nowak-Göttl Y1 - 1998/03/01 UR - http://fn.bmj.com/content/78/2/F121.abstract N2 - AIMS To determine to what extent the Arg506 to Gln point mutation in the factor V gene and further genetic factors of thrombophilia affect the risk of porencephaly in neonates and infants. METHODS The Arg506 to Gln mutation, factor V, protein C, protein S, antithrombin, antiphospholipid antibodies and lipoprotein (a) (Lp(a)) were retrospectively measured in neonates and children with porencephaly (n=24). RESULTS Genetic risk factors for thrombophilia were diagnosed in 16 of these 24 patients: heterozygous factor V Leiden (n=3); protein C deficiency type I (n=6); increased Lp (a) (n=3); and protein S type I deficiency (n=1). Three of the 16 infants had two genetic risk factors of thrombophilia: factor V Leiden mutation combined with increased familial Lp (a) was found in two, and factor V Leiden mutation with protein S deficiency type I in one. CONCLUSIONS The findings indicate that deficiencies in the protein C anticoagulant pathway have an important role in the aetiology of congenital porencephaly. ER -