Factor V Leiden and genetic defects of thrombophilia in childhood porencephaly.

Authors :: Debus O
Koch HG
Kurlemann G
Sträter R
Vielhaber H
Weber P
Nowak-Göttl U
Source :: Archives of disease in childhood. Fetal and neonatal edition [Arch Dis Child Fetal Neonatal Ed] 1998 Mar; Vol. 78 (2), pp. F121-4.
Publication Year :: 1998
Abstract: 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.<br />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).<br />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.<br />Conclusions: The findings indicate that deficiencies in the protein C anticoagulant pathway have an important role in the aetiology of congenital porencephaly.