Khaladkar Sanjay M, M Suhas, Dhadve Rajshree, Dosi Udayan
Radiodiagnosis, Dr. D. Y. Patil Medical College, Hospital & Research Centre, Dr. D. Y. Patil Vidyapeeth, Pune, IND.
Cureus. 2023 Jul 11;15(7):e41715. doi: 10.7759/cureus.41715. eCollection 2023 Jul.
Ehlers-Danlos syndrome (EDS) is a rare, heterogeneous group of genetic connective tissue disorders that affect collagen proteins. Currently, they are classified into 13 subtypes, many of which share general characteristics such as thin, hyperextensible skin and joint hypermobility. Vascular Ehlers-Danlos syndrome (vEDS) is characterized by tissue fragility, which predisposes individuals to premature arterial, uterine, or intestinal rupture. In this case, a young female presented with proptosis, skin hyperelasticity, and multiple joint dislocations. On computed tomography angiography (CTA), a direct caroticocavernous fistula, along with multiple segments of narrowing and ectasia in the internal carotid arteries and vertebral arteries, were detected, leading to a diagnosis of vEDS. This case report highlights the importance of clinical evaluation and the role of imaging in detecting this rare condition.
埃勒斯-当洛综合征（EDS）是一组罕见的、异质性的遗传性结缔组织疾病，会影响胶原蛋白。目前，它们被分为13个亚型，其中许多亚型具有共同特征，如皮肤薄且过度伸展以及关节活动过度。血管型埃勒斯-当洛综合征（vEDS）的特征是组织脆弱，这使个体易发生动脉、子宫或肠道过早破裂。在本病例中，一名年轻女性出现眼球突出、皮肤弹性过强和多处关节脱位。在计算机断层扫描血管造影（CTA）检查中，发现了一个直接的颈内动脉海绵窦瘘，以及颈内动脉和椎动脉的多个节段狭窄和扩张，从而诊断为vEDS。本病例报告强调了临床评估的重要性以及影像学在检测这种罕见疾病中的作用。
