Turan Özden, Anuk-İnce Deniz, Olcay Lale, Sezer Taner, Gülleroğlu Kaan, Yılmaz-Çelik Zerrin, Ecevit Ayşe
Divisions of Neonatology, Baskent University Faculty of Medicine, Ankara, Turkey.
Divisions of Pediatric Hematology, Baskent University Faculty of Medicine, Ankara, Turkey.
Turk J Pediatr. 2017;59(1):71-75. doi: 10.24953/turkjped.2017.01.012.
Turan Ö, Anuk-İnce D, Olcay L, Sezer T, Gülleroğlu K, Yılmaz-Çelik Z, Ecevit A. Neonatal cerebral sinovenous thrombosis: Two cases, two different gene polymorphisms and risk factors. Turk J Pediatr 2017; 59: 71-75. Cerebral sinovenous thrombosis (CSVT) is a rare disease in the neonatal period and also the greatest risk of neonatal mortality and morbidity. In this report, we presented two cases with CSVT and different risk factors. One of these cases had methylenetetrahydrofolate reductase (MTHFR) C677T homozygous polymorphism and the other case had both MTHFR A1298C homozygous polymorphism, plasminogen activator inhibitor-1 (PAI-1) 4G/ 5G polymorphism and elevated lipoprotein a. Early diagnosis and prompt initiation of therapy of neonatal CSVT may prevent neonatal mortality and poor long-term neurodevelopmental outcomes.
图兰·Ö、阿努克 - 因斯·D、奥尔凯·L、塞泽尔·T、居勒罗卢·K、伊尔马兹 - 切利克·Z、埃杰维特·A。新生儿脑静脉窦血栓形成：两例，两种不同的基因多态性及危险因素。《土耳其儿科学杂志》2017年；59卷：71 - 75页。脑静脉窦血栓形成（CSVT）在新生儿期是一种罕见疾病，也是新生儿死亡和发病的最大风险因素。在本报告中，我们呈现了两例患有CSVT且具有不同危险因素的病例。其中一例具有亚甲基四氢叶酸还原酶（MTHFR）C677T纯合多态性，另一例同时具有MTHFR A1298C纯合多态性、纤溶酶原激活物抑制剂 - 1（PAI - 1）4G/5G多态性以及脂蛋白a升高。新生儿CSVT的早期诊断和及时开始治疗可能预防新生儿死亡及不良的长期神经发育结局。
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