From the Departments of Neuroscience, Biomedicine and Movement (M.C., A. Gajofatto) and Neurological and Movement Sciences (G.S.), University of Verona; Department of Neurosciences (C.G., C.T.), Azienda Ospedaliera San Camillo Forlanini, Roma; Department of Basic Medical Sciences, Neurosciences and Sense Organs (C.T., D.P.), University of Bari; Policlinico Gemelli (G.F.), Rome; Dipartimento di Biomedicina Sperimentale e Neuroscienze Cliniche (BIONEC) (P.R.), Università di Palermo; Istituto Neurologico Mediterraneo (R.F.), Pozzilli; Department of Neurology and Psychiatry (L.P.), Sapienza University of Rome; Multiple Sclerosis Center (P.A.), ASST Valle Olona, PO di Gallarate; Multiple Sclerosis Center (C.C.), Ospedale di Montichiari, Spedali Civili di Brescia; Clinica Neurologica (M.D.), Dipartimento di Medicina, Università di Perugia; Department of Biomedical, Metabolic and Neurosciences (D.F.), University of Modena and Reggio Emilia, Modena; Neurologia 2-CRESM (S.M.), AOU San Luigi Gonzaga, Orbassano; Multiple Sclerosis Centre (S.L.), A.O.U. Policlinico-Vittorio Emanuele, Catania; Neurology Clinic (G.D.), Multiple Sclerosis Center, SS. Annunziata Hospital, Chieti; Department of Medicine, Surgery and Neuroscience (M.L.S.), University of Siena; Department of Medical Science and Public Health (E.C.), University of Cagliari; Department of Medical, Surgical, Neurological, Metabolic and Aging Science (A. Gallo), University of Campania; Department of Neuroscience, Reproductive Sciences (R.L.), University Federico II, Naples, Italy; Institute of Psychological Medicine and Clinical Neurosciences (V.T.), Cardiff University School of Medicine, UK; Ospedale di Vaio (I.P.), Centro SM, Fidenza, Parma; Ospedale San Raffaele (M.E.R.), Milan; and Department of Rehabilitation (C.S.), Mons L Novarese Hospital, Moncrivello, Italy.
Neurology. 2019 May 28;92(22):e2527-e2537. doi: 10.1212/WNL.0000000000007573. Epub 2019 May 1.
The exclusion of other diseases that can mimic multiple sclerosis (MS) is the cornerstone of current diagnostic criteria. However, data on the frequency of MS mimics in real life are incomplete.
A total of 695 patients presenting with symptoms suggestive of MS in any of the 22 RIREMS centers underwent a detailed diagnostic workup, including a brain and spinal cord MRI scan, CSF and blood examinations, and a 3-year clinical and radiologic follow-up.
A total of 667 patients completed the study. Alternative diagnoses were formulated in 163 (24.4%) cases, the most frequent being nonspecific neurologic symptoms in association with atypical MRI lesions of suspected vascular origin (40 patients), migraine with atypical lesions (24 patients), and neuromyelitis optica (14 patients). MS was diagnosed in 401 (60.1%) patients according to the 2017 diagnostic criteria. The multivariate analysis revealed that the absence of CSF oligoclonal immunoglobulin G bands (IgG-OB) (odds ratio [OR] 18.113), the presence of atypical MRI lesions (OR 10.977), the absence of dissemination in space (DIS) of the lesions (OR 5.164), and normal visual evoked potentials (OR 3.550) were all independent predictors of an alternative diagnosis.
This observational, unsponsored, real-life study, based on clinical practice, showed that diseases that mimicked MS were many, but more than 45% were represented by nonspecific neurologic symptoms with atypical MRI lesions of suspected vascular origin, migraine, and neuromyelitis optica. The absence of IgG-OB and DIS, the presence of atypical MRI lesions, and normal visual evoked potentials should be considered suggestive of an alternative disease and red flags for the misdiagnosis of MS.
排除其他可模仿多发性硬化症（MS）的疾病是当前诊断标准的基石。然而，关于真实生活中 MS 模拟物的频率的数据并不完整。
共有 695 名在 22 个 RIREMS 中心出现任何 MS 症状的患者接受了详细的诊断检查，包括脑和脊髓 MRI 扫描、CSF 和血液检查，以及 3 年的临床和放射学随访。
共有 667 名患者完成了研究。在 163 例（24.4%）病例中制定了替代诊断，最常见的是伴有可疑血管源性非典型 MRI 病变的非特异性神经系统症状（40 例）、伴有非典型病变的偏头痛（24 例）和视神经脊髓炎（14 例）。根据 2017 年的诊断标准，401 例（60.1%）患者诊断为 MS。多变量分析显示，CSF 寡克隆免疫球蛋白 G 带（IgG-OB）缺失（优势比 [OR] 18.113）、存在非典型 MRI 病变（OR 10.977）、病变空间分布不扩散（OR 5.164）和正常视觉诱发电位（OR 3.550）均为替代诊断的独立预测因素。
这项基于临床实践的观察性、无赞助的真实生活研究表明，模仿 MS 的疾病很多，但超过 45%是由非特异性神经系统症状、疑似血管源性非典型 MRI 病变、偏头痛和视神经脊髓炎引起的。IgG-OB 缺失和 DIS 缺失、存在非典型 MRI 病变和正常视觉诱发电位应被视为提示替代疾病的指标，并提示 MS 误诊的风险。
