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., ...Daha Fazla

JOURNAL OF THROMBOSIS AND THROMBOLYSIS, cilt.35, sa.2, ss.279-281, 2013 (SCI-Expanded, Scopus) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 35 Sayı: 2
  • Basım Tarihi: 2013
  • Doi Numarası: 10.1007/s11239-012-0776-9
  • Dergi Adı: JOURNAL OF THROMBOSIS AND THROMBOLYSIS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.279-281
  • İstanbul Üniversitesi-Cerrahpaşa Adresli: Evet

Özet

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.