Arch Dis Child Fetal Neonatal Ed 1998;78:F121-F124 ( March )

Factor V Leiden and genetic defects of thrombophilia in childhood porencephaly

Otfried Debus, Hans Georg Koch, Gerhard Kurlemann, Ronald Sträter, Heinrich Vielhaber, Peter Weber, Ulrike Nowak-Göttl

Department of Paediatrics, University Hospital Munster, Germany

Correspondence to: Dr Ulrike Nowak-Göttl, Westfälische Wilhelms-Universität, Paediatric Haematology and Oncology, Albert-Schweitzer- Str. 33, D - 48149 Münster, Germany.

Accepted 20 August 1997

AIMSTo 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.
METHODSThe 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).
RESULTSGenetic 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.
CONCLUSIONSThe findings indicate that deficiencies in the protein C anticoagulant pathway have an important role in the aetiology of congenital porencephaly.

Keywords: porencephaly; factor V Leiden mutation; protein C; lipoprotein (a)

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© 1998 by Archives of Disease in Childhood
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