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Measurement of Factor V Activity in Human Plasma Using a Microplate Coagulation Assay
13:08

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Published on: September 9, 2012

Factor V Leiden and genetic defects of thrombophilia in childhood porencephaly

O Debus1, H G Koch, G Kurlemann

  • 1Department of Paediatrics, University Hospital Munster, Germany.

Archives of Disease in Childhood. Fetal and Neonatal Edition
|May 13, 1998
PubMed

Insights

Genetic thrombophilia risk factors, including protein C deficiency, are linked to congenital porencephaly in infants. These findings highlight the role of anticoagulant pathway deficiencies in porencephaly development.

Area of Science:

  • Medical Genetics
  • Pediatric Neurology
  • Hematology

Background:

  • Congenital porencephaly is a rare brain malformation with multifactorial causes.
  • Genetic factors, particularly thrombophilia, are increasingly recognized as potential contributors.

Purpose of the Study:

  • To investigate the association between genetic thrombophilia factors and the risk of porencephaly in neonates and infants.
  • To determine the prevalence of specific genetic mutations and deficiencies in patients with porencephaly.

Main Methods:

  • Retrospective analysis of 24 neonates and children diagnosed with porencephaly.
  • Measurement of Arg506 to Gln mutation (Factor V Leiden), protein C, protein S, antithrombin, antiphospholipid antibodies, and lipoprotein (a) levels.

Main Results:

  • Genetic risk factors for thrombophilia were identified in 16 out of 24 patients.
  • Common findings included heterozygous Factor V Leiden mutation, Protein C deficiency type I, increased Lp(a), and Protein S deficiency type I.
  • Three patients presented with two combined genetic risk factors.

Conclusions:

  • Deficiencies within the protein C anticoagulant pathway play a significant role in the etiology of congenital porencephaly.
  • These genetic factors represent important targets for further research and potential therapeutic strategies.
Abstract

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