Cerebral Venous Sinus Thrombosis Caused by Hereditary Protein S Deficiency: A Case Report

Background: Hereditary thrombophilia account for 10% to 22% of cerebral venous sinus thrombosis (CVST). Protein S deficiency is one of important diagnostic consideration, but it is difficult to establish the diagnosis at acute thrombosis. Here, we report a case of CVST related to protein S deficiency who underwent endovascular thrombectomy (EVT) with favourable outcome. Case report: A 37-year-old man with a strong family history of deep vein thrombosis experienced headache with increased intracranial cerebral pressure features, right hemiparesis, aphasia, and apraxia within 7 days. Brain CT and MR imaging showed CVST involving the superior sagittal sinus and left vein of Trolard, with venous congestion and parenchymal haemorrhage. Very low protein S function (17.7%) was revealed during subsequent survey, which suggested protein S deficiency rather than the increased consumption. Transvenous EVT and heparinization followed by warfarin were administered. The patient was discharged one month later with independent functional status. Conclusion: Detailed family history and careful testing interpretation are essential to diagnose protein S deficiency. Beyond standard anticoagulation, EVT may serve as a salvage therapy for severe or complicated CVST.

關鍵字

Protein S deficiency ； cerebral venous sinus thrombosis ； endovascular thrombectomy

並列摘要

背景：腦靜脈竇栓塞的原因中，遺傳性凝血異常佔了10－22%，S蛋白缺乏症是其中一個重要的鑑別診斷。但在急性栓塞期，要建立此診斷並不容易。本文報告一個S蛋白缺乏症引起腦靜脈竇栓塞的個案，其在接受藥物及血管內血栓移除治療後達到良好的預後。病例報告：一位具有明顯深層靜脈栓塞家族史的37歲男性，到院前7天產生具顱內壓增加性質的急性頭痛，右側肢體無力，失語症及失用症。腦部電腦斷層及核磁共振顯示為上矢狀竇及左側上吻合靜脈的腦靜脈竇栓塞，並有靜脈鬱血及腦出血之情形。凝血功能檢查發現病人具有非常低數值的S蛋白（17.7%），難以單用其在急性中風時期被消耗掉來解釋。病人到院後接受經靜脈血栓移除術，肝素與口服抗凝血藥物，於一個月後出院，出院時為良好的功能狀態。結論：詳盡的家族史及仔細的實驗室數據判讀對於診斷S蛋白缺乏症甚為重要。而除了抗凝血藥物的標準治療，血管內血栓移除治療對於嚴重或具併發症的腦靜脈竇栓塞，可作為有效的救援性治療。

並列關鍵字

S蛋白缺乏症；腦靜脈竇栓塞；血管內血栓移除治療

國際替代計量

Cerebral Venous Sinus Thrombosis Caused by Hereditary Protein S Deficiency: A Case Report

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