Gameiro Rita de Sousa, Reis Ana Isabel Alves, Grilo Ana Cristina, Noronha Carla
Medicina Interna, Hospital Beatriz Ângelo, Loures, Portugal.
BMJ Case Rep. 2018 Mar 5;2018:bcr-2017-223699. doi: 10.1136/bcr-2017-223699.
Mixed connective tissue disease (MCDT) is a rare condition characterised by the presence of high titres of anti-U1 ribonucleoprotein antibodies and selected clinical features of systemic lupus erythematosus, systemic sclerosis and polymyositis/dermatomyositis. Early symptoms are non-specific, including easy fatigability, myalgia, arthralgia and Raynaud's phenomenon. Some reports emphasised the favourable outcome and excellent response to glucocorticoids, but there are contradictory studies reporting worse prognosis. Also, a subset of patients evolve into a clinical picture more consistent with a major diffuse connective tissue disease. We present the case of a 50-year-old black woman whose inaugural presentation of MCDT was oropharyngeal dysphagia, symmetrical proximal muscle weakness, tongue atrophy and skin sclerosis. High-dose corticosteroids and methotrexate were given with little improvement, maintaining disabling dysphagia leading to a percutaneous endoscopic gastrostomy tube placement. She was then started on intravenous immunoglobulin with progressive remission of symptoms.
混合性结缔组织病（MCDT）是一种罕见疾病，其特征为存在高滴度的抗U1核糖核蛋白抗体以及系统性红斑狼疮、系统性硬化症和多发性肌炎/皮肌炎的特定临床特征。早期症状不具特异性，包括易疲劳、肌痛、关节痛和雷诺现象。一些报告强调了良好的预后以及对糖皮质激素的良好反应，但也有相互矛盾的研究报告预后较差。此外，一部分患者会发展为更符合主要弥漫性结缔组织病的临床表现。我们报告一例50岁黑人女性病例，其混合性结缔组织病的首发表现为口咽吞咽困难、对称性近端肌无力、舌萎缩和皮肤硬化。给予大剂量糖皮质激素和甲氨蝶呤治疗后改善甚微，吞咽困难持续存在，导致需放置经皮内镜下胃造瘘管。随后开始给予静脉注射免疫球蛋白治疗，症状逐渐缓解。
