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Systematic review: hereditary thrombophilia associated to pediatric strokes and cerebral palsy

Vinicius M Torres1, Vera A Saddi2

  • 1Department of Medicine, Pontifícia Universidade Católica de Goiás (PUC Goiás), Goiânia, GO, Brazil.

Jornal De Pediatria
|December 3, 2014
PubMed

Insights

Genetic mutations in hereditary thrombophilia show unclear links to pediatric stroke and cerebral palsy (CP). Combined genetic factors or thrombophilia with other risks may increase the likelihood of these conditions.

Area of Science:

  • Medical Genetics
  • Pediatric Neurology
  • Hematology

Background:

  • Hereditary thrombophilia involves genetic mutations and polymorphisms.
  • Pediatric stroke and cerebral palsy (CP) are significant neurological conditions.
  • The link between thrombophilia and these pediatric conditions requires further investigation.

Purpose of the Study:

  • To review and synthesize current knowledge on hereditary thrombophilia mutations and polymorphisms.
  • To explore the association between these genetic factors and pediatric stroke and CP.
  • To consolidate findings from existing literature.

Main Methods:

  • Systematic review of scientific articles published between 1993 and 2013.
  • Searches conducted in multiple languages (Portuguese, English, French, Spanish) across electronic databases and local libraries.
  • Keywords included: hereditary thrombophilia, polymorphisms, mutation, pediatric strokes, and cerebral palsy.

Main Results:

  • 75 articles were included in the review, revealing contradictory findings.
  • Studies investigating the association showed slightly increased relative risks, with some conclusions being questionable.
  • The presence of multiple hereditary thrombophilias or thrombophilia combined with other clinical risk factors suggested a higher risk for pediatric stroke and CP.

Conclusions:

  • The exact role of hereditary thrombophilia mutations in pediatric stroke and CP remains uncertain.
  • The etiology of CP and stroke is complex and multifactorial.
  • Larger, multicenter studies are essential to clarify these associations and their clinical implications.
Abstract

Keywords:
Acidentes vasculares cerebrais pediátricosCerebral palsyHereditary thrombophiliaMutationMutaçãoParalisia cerebralPediatric strokesPolimorfismosPolymorphismsTrombofilias hereditárias

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