Factor V Leiden mutation: an unrecognized cause of hemiplegic cerebral palsy, neonatal stroke, and placental thrombosis

Ann Neurol. 1997 Sep;42(3):372-5. doi: 10.1002/ana.410420316.


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.

Publication types

  • Case Reports

MeSH terms

  • Brain Ischemia / genetics*
  • Brain Ischemia / pathology
  • Cerebral Palsy / genetics*
  • Cerebral Palsy / pathology
  • Cerebrovascular Disorders / genetics*
  • Factor V / genetics*
  • Female
  • Hemiplegia / genetics*
  • Humans
  • Infant, Newborn
  • Magnetic Resonance Imaging
  • Male
  • Placenta / pathology*
  • Point Mutation*
  • Pregnancy
  • Protein C / genetics
  • Thrombosis / genetics*
  • Thrombosis / pathology*


  • Protein C
  • factor V Leiden
  • Factor V