脑静脉血栓形成和上肢深静脉血栓形成患者的SERPINC1突变

Q4 Medicine Annals of Child Neurology Pub Date : 2022-05-25 DOI:10.26815/acn.2022.00052

J. Byun, J. Hong

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摘要

儿童脑静脉血栓形成（CVT）是罕见的，发病率为0.67/100000儿童，包括新生儿[1]。其临床表现可能各不相同，包括癫痫发作、视乳头水肿、头痛、意识丧失、昏迷和局部神经系统缺陷。新生儿最常见的表现是癫痫发作，而头痛在非新生儿年龄组中占主导地位[2]。遗传性血栓形成倾向导致34%至41%的CVT病例，其中抗凝血酶（AT）缺乏症很少报道[3]。在此，我们报告了一例CVT、肺血栓栓塞症（PTE）和上肢深静脉血栓形成（DVT）与AT缺乏相关的病例，这是由于SERPINC1中的一个新的错义突变。一名16岁男孩到访

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A SERPINC1 Mutation in a Patient with Cerebral Venous Thrombosis and Upper-Extremity Deep Vein Thrombosis

Cerebral venous thrombosis (CVT) in children is rare, with an incidence of 0.67 per 100,000 children, including newborns [1]. Its clinical manifestations may vary, including seizures, papilledema, headache, loss of consciousness, coma, and local neurological defects. The most com-mon manifestation in neonates is seizures, whereas headache predominates in non-neonatal age groups [2]. Hereditary thrombophilia causes 34% to 41% of CVT cases, within which antithrombin (AT) deficiency is rarely reported [3]. Here, we report a case of CVT, pulmonary thromboembolism (PTE), and upper-extremity deep vein thrombosis (DVT) associated with AT deficiency due to a novel missense mutation in SERPINC1 . A 16-year-old boy visited

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