Cerebral sinovenous thrombosis associated with MTHFR A1298C mutation in the newborn: A case report
Journal of Thrombosis and Thrombolysis, cilt.35, sa.2, ss.279-281, 2013 (SCI-Expanded, Scopus)
- 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
- Anahtar Kelimeler: Cerebral sinovenous thrombosis, Ischemic stroke, MTHFR A1298C mutation, Newborn
- Ankara Yıldırım Beyazıt Üniversitesi 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. © 2012 Springer Science+Business Media, LLC.