Cerebral sinovenous thrombosis associated with MTHFR A1298C mutation in the newborn: a case report

J Thromb Thrombolysis. 2013 Feb;35(2):279-81. doi: 10.1007/s11239-012-0776-9.

Abstract

Although cerebral sinovenous thrombosis (CSVT) is a rare condition in the neonatal period, high rates of morbidity and mortality necessitate the establishment of an early diagnosis. Methylenetetrahydrofolate reductase (MTHFR) plays a central role in the folate cycle and mutations of MTHFR are associated with vascular disease. While the C677T common missense mutation is the most well-defined MTHFR polymorphism, another common missense mutation, A1298C also exists. There has been no reported case of CSVT associated with MTHFR A1298C mutation in the neonatal period. Herein, we report a neonate with CSVT who was found to have MTHFR A1298C homozygosity.

Publication types

  • Case Reports

MeSH terms

  • Female
  • Homozygote
  • Humans
  • Infant, Newborn
  • Intracranial Thrombosis / diagnosis*
  • Intracranial Thrombosis / genetics*
  • Methylenetetrahydrofolate Reductase (NADPH2) / genetics*
  • Mutation, Missense / genetics*

Substances

  • MTHFR protein, human
  • Methylenetetrahydrofolate Reductase (NADPH2)