视神经脊髓炎谱系疾病临床特征分析及症状异质性研究

目的:探讨视神经脊髓炎谱系疾病(NMOSD)的临床特征,分析非典型临床症状的异质性。方法:纳入符合NMOSD诊断标准的患者36例,收集患者临床资料,包括临床特征、影像学表现、实验室检查、治疗及随访等,并进行回顾性分析。结果:36例患者中男∶女=7∶29;平均年龄(43.5±6.4)岁;甲状腺功能亢进病史2例,过敏性哮喘病史1例,干燥综合征病史1例;首发症状为顽固性恶心,呕吐4例、感觉异常4例、味觉减退1例、视神经炎表现的10例、脊髓炎表现17例;非典型首发症状比例为5/36。血清抗水通道蛋白抗体(AQP-4)阳性14例(14/32),抗髓鞘少突胶质细胞糖蛋白抗体(MOG-IgG)阳性10例(10/25)。核磁检查可见大脑皮质、中脑、脑桥、延髓、脊髓异常病灶。36例患者均行糖皮质激素冲击治疗,行血浆置换治疗1例,后续使用硫唑嘌呤口服治疗5例。25例患者遗留不同程度的后遗症。结论:NMOSD好发于青年女性,部分可合并其他自身免疫疾病;首发症状及病程中出现的症状表现复杂多样,病变以视神经,脊髓,脑部受累为主。对于临床表现不特异的患者需高度警惕NMOSD的可能。

Clinical Analysis and Research on Atypical Manifestation of Neuromyelitis Optica SpectrumDisorders

Objective: To explore the clinical features in neuromyelitis optica spectrum disorders(NMOSD)and analyze the heterogeneity of atypical clinical manifestations. Methods: The clinical data of 36 patients with NMOSD were collected. Their clinical profiles, MRI features, laboratory examination, treatment, and prognosis were analyzed. Results: Of the 36 patients, the male to female ratio was 7∶29. The average age was(43.5±6.4)years. There were 2 cases with history of hyperthyroidism, 1 case with history of allergic asthma, and 1 case with history of Sjogren’s syndrome. Initial manifestations include intractable nausea and vomiting in 4 cases,paresthesia in 4 cases, hypogeusia in 1 case, optic neuritis symptoms in 10 cases, and myelitis symptoms in 17 cases. The ratio of atypical initial manifestations was 5/36. There were 14 cases that were positive for serum AQP4-IgG(14/32) and 10 cases that were positive for serum MOG-IgG(10/25). Magnetic resonance imaging(MRI) showed abnormal signals in the cerebral cortex, midbrain, pons, oblongata, and spinal cord. All 36 patients were treated with glucocorticoid;among them, 1 received plasmapheresis and 5 received azathioprine by oral dosage. Follow up showed that 25 patients experienced different degrees of sequelae. Conclusion:Neuromyelitis optica spectrum disorders frequently occur in young females. Some cases may exist in combination with other autoimmune diseases. Manifestations in the initial stage and course of disease vary greatly. Lesions occur mainly in the optic nerve, spinal cord, and brain. NMOSD should be considered in patients with atypical clinical manifestations.