Cerebrovascular disorders in children with the factor V Leiden mutation

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Published on: September 9, 2012

J K Lynch1, K B Nelson, C J Curry

  • 1Neuroepidemiology Branch, National Institute of Neurological Disorders and Stroke, Bethesda, MD, USA. lynchj@ninds.nih.gov

Journal of Child Neurology
|October 24, 2001
PubMed

Insights

The factor V Leiden mutation is linked to childhood stroke and cerebral palsy, particularly in infants. Consider this genetic risk factor in young patients with cerebrovascular events.

Area of Science:

  • Pediatric Neurology
  • Hematology
  • Genetics

Background:

  • The factor V Leiden mutation is a common inherited thrombophilia.
  • Cerebrovascular disorders and cerebral palsy can have various etiologies in children.

Observation:

  • Since 1995, 128 pediatric cases of cerebrovascular disorders, cerebral palsy, or both with factor V Leiden mutation have been reported.
  • Most strokes occurred within the first year of life, many perinatally.
  • Two-thirds of patients had additional exogenous risk factors for thrombosis, and 42% had other endogenous prothrombotic risk factors.

Findings:

  • The factor V Leiden mutation is associated with cerebrovascular disorders in children under 16.
  • Clinical features of eight children with cerebral palsy and factor V Leiden mutation are described.

Implications:

  • Factor V Leiden mutation should be considered in the evaluation of pediatric stroke and its sequelae.
  • Early identification of this genetic risk factor can inform management and prognosis in affected children.

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