Ehler-Danlos syndrome

  • 文章类型: Case Reports
    未经评估:Parsonage-Turner综合征是一种罕见的疾病,由于与肩袖损伤和颈神经根病等其他疾病的症状重叠,常被医生误诊。Parsonage-Turner综合征的病因尚不清楚,但与对风湿病的免疫介导反应有关,感染,手术,和免疫接种。
    UNASSIGNED:一名18岁的前网球女选手,有复杂区域疼痛综合征(CRPS)的病史,Ehler-Danlos综合征(EDS),之前有两次右肩手术出现在骨科诊所,双侧肩痛。在右肩做了第三次手术后,患者后来出现持续的灼热和剧烈疼痛,右肩向胸部辐射。她也经历了麻木,刺痛,右肩无力,左肩疼痛无力。患者右侧肌皮神经触痛,双肩超声发炎。进行了肌电图(EMG)和神经传导研究,与慢性臂丛神经病变的双侧亚急性一致,提示Parsonage-Turner综合征.由于自身免疫性疾病的广泛家族史,咨询了风湿病学,导致强直性脊柱炎的额外诊断。在接下来的一年中,患者的双侧肩痛通过物理治疗和常规治疗缓慢改善。
    未经评估:所描述的案例,在这里,代表一个独特的患者,他患有强直性脊柱炎的罕见疾病,CRPS,EDS,和牧师-特纳综合征。肌电图对于区分Parsonage-Turner综合征与重叠的CRPS症状至关重要,没有这种症状,强直性脊柱炎的诊断可能被延迟。医生必须全面了解病史,包括不常见或罕见的疾病作为潜在的诊断,并在评估患者时进行彻底的测试,以避免不必要的治疗和患者的不满。
    UNASSIGNED: Parsonage-Turner syndrome is a rare condition that is often misdiagnosed by physicians due to the overlapping symptoms with other conditions such as rotator cuff injury and cervical radiculopathy. The etiology of the Parsonage-Turner syndrome is unknown, but has been associated with an immune-mediated response to rheumatic disease, infection, surgery, and immunizations.
    UNASSIGNED: A 18-year-old female former tennis player with a history of complex regional pain syndrome (CRPS), Ehler-Danlos syndrome (EDS), and two prior right shoulder surgeries presented to the orthopaedic clinic with bilateral shoulder pain. After a third surgery on the right shoulder, the patient later developed constant burning and sharp pain around the right shoulder that radiated toward the chest. She also experienced numbness, tingling, and weakness in the right shoulder along with pain and weakness in the left shoulder. The patient was tender over the right musculocutaneous nerve and both shoulders were inflamed on ultrasound. Electromyography (EMG) and nerve conduction studies were performed, which were consistent with a bilateral subacute on chronic brachial plexopathy, suggestive of Parsonage-Turner syndrome. Rheumatology was consulted due to an extensive family history of autoimmune diseases, leading to an additional diagnosis of ankylosing spondylitis. The patient\'s bilateral shoulder pain slowly improved over the following year with physical therapy and prolotherapy treatments.
    UNASSIGNED: The case described, herein, represents a unique patient who presents with the rare conditions of ankylosing spondylitis, CRPS, EDS, and Parsonage-Turner syndrome. EMG was critical to differentiate Parsonage-Turner syndrome from the overlapping CRPS symptoms and without this, the diagnosis of ankylosing spondylitis may have been delayed. It is imperative physicians take a thorough history, include uncommon or rare conditions as a potential diagnosis, and undergo thorough testing while evaluating a patient to avoid unnecessary treatment therapies and patient dissatisfaction.
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

       PDF(Pubmed)

  • 文章类型: Case Reports
    Ehlers-Danlos综合征(EDS)是一种罕见的遗传性结缔组织疾病。在几个小组中,IV型EDS通常与血管脆性引起的自发性灾难性出血相关。我们报告了1例IV型EDS患者的颈动脉海绵窦瘘(CCF)。一名46岁的女性出现眼肌麻痹和右眼放化疗。随后,发作和脑梗塞伴微出血。经静脉弹簧圈栓塞完全闭塞CCF,无并发症。此后,病人完全康复。经静脉弹簧圈栓塞可以作为自发性CCF合并IV型EDS的良好治疗选择。然而,在侵入性手术期间应保持谨慎。
    Ehlers-Danlos syndrome (EDS) is a rare inherited connective disease. Among several subgroups, type IV EDS is frequently associated with spontaneous catastrophic bleeding from a vascular fragility. We report on a case of carotid-cavernous fistula (CCF) in a patient with type IV EDS. A 46-year-old female presented with an ophthalmoplegia and chemosis in the right eye. Subsequently, seizure and cerebral infarction with micro-bleeds occurred. CCF was completely occluded with transvenous coil embolization without complications. Thereafter, the patient was completely recovered. Transvenous coil embolization can be a good treatment of choice for spontaneous CCF with type IV EDS. However, every caution should be kept during invasive procedure.
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

       PDF(Pubmed)

公众号