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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
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.
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.
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