Division of Neonatology, Department of Pediatrics, Fatih University Medical School, Alparslan Turkes Caddesi No:57, Emek, Ankara, Turkey.
J Thromb Thrombolysis. 2013 Feb;35(2):279-81. doi: 10.1007/s11239-012-0776-9.
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.
尽管脑静脉窦血栓形成（CSVT）在新生儿期较为罕见，但高发病率和死亡率需要早期诊断。亚甲基四氢叶酸还原酶（MTHFR）在叶酸循环中起核心作用，MTHFR 突变与血管疾病相关。虽然 C677T 常见错义突变是最明确的 MTHFR 多态性，但另一种常见的错义突变 A1298C 也存在。目前尚未有报道称 MTHFR A1298C 突变与新生儿期 CSVT 相关。在此，我们报告了一例患有 CSVT 的新生儿，发现其 MTHFR A1298C 纯合性。
