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Factor V Leiden mutation: An unrecognized cause of hemiplegic cerebral palsy, neonatal stroke, and placental thrombosis
Author(s) -
Thorarensen Olafur,
Ryan Stephen,
Hunter Jill,
Younkin Donald P.
Publication year - 1997
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.410420316
Subject(s) - medicine , activated protein c resistance , factor v leiden , stroke (engine) , venous thrombosis , protein c , risk factor , thrombosis , cerebral palsy , cerebral infarction , factor v , pediatrics , cardiology , ischemia , physical therapy , mechanical engineering , engineering
Activated protein C resistance caused by an Arg 506 Gln 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.