Factor V Leiden and genetic defects of thrombophilia in childhood porencephaly.
OBJECTIVE
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.
Debus
O
O
Department of Paediatrics, University Hospital Munster, Germany.
Koch
H G
HG
Kurlemann
G
G
Sträter
R
R
Vielhaber
H
H
Weber
P
P
Nowak-Göttl
U
U
D000293:Adolescent; D001927:Brain Diseases / Q000097:blood / Q000196:embryology* / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D003560:Cysts / Q000097:blood / Q000196:embryology* / Q000235:genetics*; D005165:Factor V / Q000235:genetics*; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D017270:Lipoprotein(a) / Q000097:blood; D008279:Magnetic Resonance Imaging; D008297:Male; D017354:Point Mutation; D020151:Protein C Deficiency; D018455:Protein S Deficiency / Q000235:genetics; D012189:Retrospective Studies; D012307:Risk Factors; D019851:Thrombophilia / Q000235:genetics*
D017270:Lipoprotein(a); C095381:factor V Leiden; D005165:Factor V