U. Nowakgottl et al., ISCHEMIC STROKE IN INFANCY AND CHILDHOOD - ROLE OF THE ARG(506) TO GLN MUTATION IN THE FACTOR-V GENE, Blood coagulation & fibrinolysis, 7(7), 1996, pp. 684-688
Dahlback et al. recently described in vitro resistance to the anticoag
ulant response of activated protein C (APC), in the majority of cases
associated with the Arg(506) to Gln point mutation in the factor V gen
e in thrombophilic patients. To determine to what extent this common g
ene mutation affects the risk of childhood stroke, its occurrence was
prospectively investigated in a population of children with ischaemic
stroke, Over a 2-year period the Arg(506) to Gln mutation, factor V, p
rotein C, protein S, antithrombin, antiphospholipid antibodies and lip
opoprotein (a) [Lp(a)] were measured in 14 infants and children with a
cute ischaemic stroke. Heterozygous factor V Leiden mutation (n = 4),
homozygous factor V Leiden mutation (n = 1), protein C deficiency type
I (n = 3) and increased Lp(a) (n = 2) were diagnosed in the children
investigated. Seven of 1 I patients showed an underlying disease and a
dditionally risk factors were present in nine of 14 children. Data of
this study indicate that deficiencies in the protein C anticoagulant p
athway play an important role in the aetiology of childhood stroke. Ho
wever, additional triggering factors may promote early manifestation o
f thromboembolism in children with inherited defects of clotting inhib
itors.