PDF(Pubmed)
Abstract：
The Ehlers-Danlos Syndromes (EDS) represent a group of hereditary connective tissue disorders, with the hypermobile subtype (hEDS) being the most prevalent. hEDS manifests with a diverse array of clinical symptoms and associated comorbidities spanning the musculoskeletal, neurological, gastrointestinal, cardiovascular, and immunological systems. hEDS patients may experience spinal neurological complications, including cervico-medullary symptoms arising from cranio-cervical and/or cervical instability/hypermobility, as well as tethered cord syndrome (TCS). TCS is often radiographically occult in nature, not always detectable on standard imaging and presents with lower back pain, balance issues, weakness in the lower extremities, sensory loss, and bowel or bladder dysfunction. Cervical instability due to ligament laxity can lead to headaches, vertigo, tinnitus, vision changes, syncope, radiculopathy, pain, and dysphagia. TCS and cervical instability not only share clinical features but can also co-occur in hEDS patients, posing challenges in diagnostics and clinical management. We present a review of the literature and a case study of a 20-year-old female with hEDS, who underwent surgical interventions for these conditions, highlighting the challenges in diagnosing and managing these complexities and underscoring the importance of tailored treatment strategies to improve patient outcomes.
摘要：
Ehlers-Danlos综合征（EDS）代表一组遗传性结缔组织疾病，其中超移动亚型(hEDS)是最普遍的。hEDS表现为跨越肌肉骨骼的各种临床症状和相关的合并症，神经学,胃肠,心血管,和免疫系统。hEDS患者可能会出现脊髓神经并发症，包括由颅颈和/或宫颈不稳定/活动过度引起的宫颈延髓症状，以及脊髓栓系综合征（TCS）。TCS在自然界中通常是影像学隐匿性的，在标准成像上并不总是能检测到，并表现为下背部疼痛，平衡问题，下肢无力，感官损失，肠或膀胱功能障碍。由于韧带松弛引起的颈椎不稳定会导致头痛，眩晕,耳鸣,视力变化,晕厥,神经根病,疼痛,和吞咽困难.TCS和宫颈不稳定不仅具有共同的临床特征，而且在hEDS患者中也可以同时发生，在诊断和临床管理方面构成挑战。我们提出的文献和一个20岁的女性hEDS的案例研究的综述，他们接受了这些疾病的手术干预，强调诊断和管理这些复杂性的挑战，并强调量身定制的治疗策略对改善患者预后的重要性。
