Abstract：
Cerebral venous thrombosis (CVT) is a rare cerebrovascular disorder characterized by the obstruction of venous channels in the brain. Genetic factors play a significant role in CVT development, and recent studies have identified gain-of-function mutations in coagulation factors, including factor IX (FIX). This case report focuses on a unique neonatal case of CVT, where an X-chromosome duplication involving the F9 gene resulted in increased FIX activity. The neonate presented with feeding difficulties, weight loss, nystagmus, and seizures. Imaging and laboratory tests confirmed a 554-kb X-chromosome duplication encompassing the F9 gene. This genetic abnormality likely contributed to the elevated FIX activity level and subsequent CVT development. Understanding the relationship between coagulation factor abnormalities and CVT risk expands our knowledge of thrombophilia\'s genetic basis and may aid in the development of targeted treatment strategies for CVT management.
摘要：
脑静脉血栓形成（CVT）是一种罕见的脑血管疾病，其特征是大脑中静脉通道的阻塞。遗传因素在CVT的发展中起着重要作用，最近的研究已经确定了凝血因子的功能增益突变，包括因子IX(FIX)。本病例报告集中于一例独特的新生儿CVT病例，其中涉及F9基因的X染色体重复导致FIX活性增加。新生儿出现喂养困难，减肥,眼球震颤,和癫痫发作。成像和实验室测试证实了包含F9基因的554kbX染色体重复。这种遗传异常可能导致FIX活性升高和随后的CVT发展。了解凝血因子异常与CVT风险之间的关系可以扩展我们对血栓形成倾向的遗传基础的认识，并可能有助于制定针对CVT管理的针对性治疗策略。
