Prothrombotic disorders and abnormal neurodevelopmental outcome in infants with neonatal cerebral infarction.
OBJECTIVE
The aim of this study was to evaluate the occurrence of prothrombotic disorders in a well-characterized cohort of infants with neonatal stroke and to document any association of prothrombotic disorders with the type of infarct seen on magnetic resonance imaging (MRI) and clinical outcome.


METHODS
Twenty-four infants with perinatal cerebral infarction confirmed by neonatal MRI were enrolled in the study. All the infants and, when possible, both parents were tested to identify inherited and acquired prothrombotic disorders.


RESULTS
None of the infants had a significant bleeding diathesis, but 10 (42%) had at least 1 prothrombotic risk factor. Five children showed heterozygosity for factor V Leiden, and 6 had high factor VIIIc concentrations. There was a striking association between the occurrence of these abnormalities and both the presence of cerebral hemorrhage on MRI and poor neurologic outcome. Eight of the 11 patients (73%) with hemiplegia or global developmental delay had factor V Leiden and/or raised factor VIIIc, whereas only 1 of the 13 patients (8%) with normal outcome had any prothrombotic risk factors. In particular, all 5 infants with factor V Leiden had hemiplegia, compared with only 4 of the 19 infants without factor V Leiden (21%).


CONCLUSIONS
These data suggest that the presence of prothrombotic risk factors and, in particular, of the factor V Leiden mutation, is significantly associated with poor outcome after perinatal cerebral infarction.
Mercuri
E
E
Departments of Paediatrics, Imperial College, Hammersmith Campus, London, United Kingdom. emercuri@ic.ac.uk
Cowan
F
F
Gupte
G
G
Manning
R
R
Laffan
M
M
Rutherford
M
M
Edwards
A D
AD
Dubowitz
L
L
Roberts
I
I
D020016:Activated Protein C Resistance / Q000097:blood* / Q000453:epidemiology; D002544:Cerebral Infarction / Q000097:blood / Q000175:diagnosis* / Q000453:epidemiology; D002658:Developmental Disabilities / Q000097:blood / Q000175:diagnosis* / Q000453:epidemiology; D005165:Factor V / Q000032:analysis / Q000235:genetics; D005169:Factor VIII / Q000032:analysis / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging / Q000706:statistics & numerical data; D009422:Nervous System Diseases / Q000097:blood / Q000175:diagnosis* / Q000453:epidemiology; D012307:Risk Factors; D019851:Thrombophilia / Q000097:blood / Q000175:diagnosis* / Q000235:genetics
C095381:factor V Leiden; D005165:Factor V; D005169:Factor VIII