Factor V Leiden mutation: an unrecognized cause of hemiplegic cerebral palsy, neonatal stroke, and placental thrombosis.
Activated protein C resistance caused by an Arg506Gln mutation in the factor V gene (factor V Leiden mutation) is the most common cause of familial thrombosis. This mutation is associated with arterial and venous thromboembolic disease in neonates, infants, and children, but is not a significant risk factor for ischemic stroke in adults. We report on 3 babies with different neonatal cerebrovascular disorders including ischemic infarction and hemorrhagic stroke who are heterozygous for factor V Leiden mutation. One infant had multiple thrombi in the fetal placental vasculature. This is the first reported association between hemiplegic cerebral palsy, placental thrombosis, and factor V Leiden mutation. We suspect that activated protein C resistance may be an important cause of in utero cerebrovascular disease and hemiplegic cerebral palsy.
Thorarensen
O
O
Children's Hospital of Philadelphia, and Department of Neurology, University of Pennsylvania, 19104, USA.
Ryan
S
S
Hunter
J
J
Younkin
D P
DP
D002545:Brain Ischemia / Q000235:genetics* / Q000473:pathology; D002547:Cerebral Palsy / Q000235:genetics* / Q000473:pathology; D002561:Cerebrovascular Disorders / Q000235:genetics*; D005165:Factor V / Q000235:genetics*; D005260:Female; D006429:Hemiplegia / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D008297:Male; D010920:Placenta / Q000473:pathology*; D017354:Point Mutation; D011247:Pregnancy; D011486:Protein C / Q000235:genetics; D013927:Thrombosis / Q000235:genetics* / Q000473:pathology*
D011486:Protein C; C095381:factor V Leiden; D005165:Factor V