O. Thorarensen et al., FACTOR-V-LEIDEN MUTATION - AN UNRECOGNIZED CAUSE OF HEMIPLEGIC CEREBRAL-PALSY, NEONATAL STROKE, AND PLACENTAL THROMBOSIS, Annals of neurology, 42(3), 1997, pp. 372-375
Activated protein C resistance caused by an Arg(506)Gln mutation in th
e factor V gene (factor V Leiden mutation) is the most common cause of
familial thrombosis. This mutation is associated with arterial and, v
enous thromboembolic disease in neonates, infants, and children, but i
s not a significant risk factor for ischemic stroke in adults. We repo
rt on 3 babies with different neonatal cerebrovascular disorders inclu
ding ischemic infarction and hemorrhagic stroke who are heterozygous f
or factor V Leiden mutation. One infant had multiple thrombi in the fe
tal placental vasculature. This is the first reported association betw
een hemiplegic cerebral palsy, placenta thrombosis, and factor V Leide
n mutation, We suspect that activated protein C resistance may be an i
mportant cause of in utero cerebrovascular disease and hemiplegic cere
bral palsy.