Abstract：
This report describes a unique case of vascular Ehlers-Danlos syndrome (vEDS) characterized by multiple spontaneous direct carotid-cavernous sinus fistulas (CCF). The patient initially presented with ocular symptoms and was effectively treated with transarterial coil embolization. Five years later, the patient developed recurrent contralateral CCF that required complex endovascular techniques. Genetic testing identified a novel mutation in the COL3A1 gene, confirming the diagnosis of vEDS. This case report provides a near-term perspective on the identification of structural abnormalities in the COL3A1 protein to ensure the safety of endovascular therapy for patients with vEDS.
摘要：
本报告描述了一个独特的血管性Ehlers-Danlos综合征（vEDS）病例，其特征是多个自发性直接颈动脉海绵窦瘘（CCF）。患者最初出现眼部症状，并通过经动脉线圈栓塞有效治疗。五年后,患者出现对侧CCF复发,需要复杂的血管内技术.基因检测在COL3A1基因中发现了一个新的突变,确认vEDS的诊断。此病例报告提供了对COL3A1蛋白结构异常鉴定的近期观点，以确保vEDS患者血管内治疗的安全性。
