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

Cizmeci M. N., Kanburoglu M. K., Akelma A. Z., Donmez A., Sonmez F. M., Polat A., ...More

JOURNAL OF THROMBOSIS AND THROMBOLYSIS, vol.35, no.2, pp.279-281, 2013 (SCI-Expanded, Scopus) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 35 Issue: 2
  • Publication Date: 2013
  • Doi Number: 10.1007/s11239-012-0776-9
  • Journal Name: JOURNAL OF THROMBOSIS AND THROMBOLYSIS
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.279-281
  • Istanbul University-Cerrahpasa Affiliated: Yes

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.