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因蛋白S缺乏导致广泛硬脑膜静脉血栓形成伴脑内出血和蛛网膜下腔出血：一例报告

Extensive Dural Venous Thrombosis With Associated Intracerebral Hemorrhage and Subarachnoid Hemorrhage Due to Protein S Deficiency: A Case Report.

作者信息

Rao Abhinav K, Lee Thomas J, Dhaliwal Kody, Shaheen Nick

机构信息

Department of Internal Medicine, Trident Medical Center, North Charleston, USA.

Internal Medicine, Rutgers University New Jersey Medical School, Newark, USA.

出版信息

Cureus. 2024 Aug 13;16(8):e66803. doi: 10.7759/cureus.66803. eCollection 2024 Aug.

DOI:10.7759/cureus.66803
PMID:39268299
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11392583/
Abstract

Cerebral venous thrombosis (CVT) is an uncommon but potentially severe condition, typically affecting younger individuals, pregnant women, and those with underlying thrombophilia. We report a rare case of a 63-year-old female who presented with altered mental status, facial droop, and slurred speech and was found to have an extensive dural venous thrombosis complicated by intracerebral and subarachnoid hemorrhage due to protein S deficiency. Given her diagnosis of protein S deficiency and thrombosis, careful anticoagulation was initiated, resulting in both clinical and radiographic improvement.

摘要

脑静脉血栓形成（CVT）是一种罕见但可能严重的病症，通常影响年轻人、孕妇以及患有潜在血栓形成倾向的人群。我们报告了一例罕见病例，一名63岁女性出现精神状态改变、面部下垂和言语不清，经检查发现患有广泛的硬脑膜静脉血栓形成，并因蛋白S缺乏并发脑内和蛛网膜下腔出血。鉴于她蛋白S缺乏和血栓形成的诊断，开始进行谨慎的抗凝治疗，结果临床症状和影像学表现均有改善。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c538/11392583/4afdd8a9c136/cureus-0016-00000066803-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c538/11392583/4afdd8a9c136/cureus-0016-00000066803-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c538/11392583/4afdd8a9c136/cureus-0016-00000066803-i01.jpg

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本文引用的文献

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Protein C deficiency with venous and arterial thromboembolic events.伴有静脉和动脉血栓栓塞事件的蛋白C缺乏症
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Protein S deficiency caused by cryptic splicing due to the novel intron variant c.346+5G>C in PROS1.由PROS1基因中新型内含子变异c.346+5G>C导致的隐蔽剪接引起的蛋白S缺乏。
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