Division of Hematology Oncology, Hospital for Sick Children, University of Toronto, Toronto, Canada.
Pediatr Blood Cancer. 2013 Jan;60(1):133-6. doi: 10.1002/pbc.24302. Epub 2012 Sep 19.
Antithrombin (AT) deficiency has been associated with an increased risk of pediatric cerebral sinus venous thrombosis (CSVT); but few cases of neonatal CSVT have been reported. We describe two half-siblings who presented with seizures in the first week of life and were found to have extensive CSVT with associated parenchymal and intraventricular hemorrhage. Both infants were found to have type 1 AT deficiency. Sequencing of the SerpinC1 gene revealed a novel heterozygous mutation on exon 5 (c.1009C > T p.Q337X). Both infants were treated with anticoagulation and had recanalization of the dural sinuses on follow up imaging.
抗凝血酶 (AT) 缺乏与小儿脑窦静脉血栓形成 (CSVT) 的风险增加有关；但新生儿 CSVT 的病例较少。我们描述了两个半同胞，他们在出生后的第一周出现癫痫发作，并发现广泛的 CSVT 伴有实质和脑室出血。两个婴儿都被发现存在 1 型 AT 缺乏症。SerpinC1 基因的测序显示第 5 外显子上存在一个新的杂合突变 (c.1009C>T p.Q337X)。两个婴儿均接受抗凝治疗，随访影像学显示硬脑膜窦再通。
