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MTHFR C677T and A1298C polymorphisms and cerebral stroke in two twin gestations

Carla Arpino1, Eliana Compagnone, Denise Cacciatore

  • 1Department of Neuroscience, Pediatric Neurology Unit Tor Vergata University of Rome, Rome, Italy.

Child'S Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery
|November 30, 2010
PubMed

Insights

Pediatric stroke risk increases with twin pregnancies and MTHFR gene mutations. Early folate supplementation may prevent brain damage in high-risk pregnancies.

Area of Science:

  • Neurology
  • Genetics
  • Obstetrics

Background:

  • Pediatric stroke is rare and multifactorial, potentially linked to MTHFR gene polymorphisms.
  • Twin gestation with co-twin demise is a known risk factor for premature brain damage.

Observation:

  • Two cases of presumed cerebral stroke in infants born from monochorionic twin pregnancies are presented.
  • The other twin in each case had died in utero.
  • Maternal and fetal homozygosity for MTHFR C677T and A1298C polymorphisms were noted, respectively.

Findings:

  • Brain damage was diagnosed immediately before delivery in both infants.
  • The study highlights the association between MTHFR gene mutations, twin gestation, and fetal/perinatal stroke.
  • The exact role of specific genetic polymorphisms in cerebral stroke genesis requires further investigation.

Implications:

  • Thrombophilia screening is recommended for women, especially during pregnancy and in twin gestations.
  • Early folate supplementation for mothers and infants may mitigate the risk of fetal/perinatal stroke and recurrent thrombotic events.
  • A multifactorial approach is crucial for managing severe fetal and perinatal cerebral vascular alterations.
Abstract

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