Background

The identification of immunoglobulin G antibodies against the aquaporin-4 channel (AQP-IgG) in the majority of adult patients differentiates neuromyelitis optica as a distinct disease entity. The high specificity of AQP4-IgG for neuromyelitis optica has allowed the identification of seropositive patients with atypical presentations of this disease. Neuromyelitis optica spectrum disorder has been increasingly recognized in children who demonstrate patterns of clinical involvement beyond the traditional boundaries of the optic pathways and spinal cord.

Methods

This is a single-center, retrospective review comparing demographic, clinical/paraclinical, and laboratory features of children and adults with a serologically confirmed diagnosis of AQP4-IgG-positive neuromyelitis optica spectrum disorder.

Results

Of 151 reviewed patient charts, 12 pediatric-onset and 31 adult-onset patients had AQP4-IgG-positive neuromyelitis optica spectrum disorder. The mean age of pediatric-onset neuromyelitis optica spectrum disorder was 12 ± 3.58 years with a female predilection (3:1). Pediatric patients showed more frequent involvement of the brainstem (6/12 [50%]); P = .008) and diencephalon (3/12 [25%]; P = .018). A preceding infection was identifiable in only 3 of 12 (25%) pediatric-onset patients. Moreover, disability as calculated on the expanded disability status scale was less severe in pediatric-onset cases compared to adult-onset cases in their most recent assessment (0 [0-9]) vs 6.5 [0-10]; P = .005). Pediatric-onset patients were also more likely to respond to treatment of acute episodes with corticosteroids ± intravenous immunoglobulin and/or plasmapheresis (Clinical Global Impression–Change scale: 2.5 [1-4] vs 4 [1-6], P = .009).

Interpretation

This retrospective study was able to compare and contrast pediatric- and adult-onset neuromyelitis optica spectrum disorder. Relative to their adult counterparts, pediatric-onset neuromyelitis optica spectrum disorder patients were more likely to respond to treatment and less likely to be disabled from their disease at follow-up. Therefore, pediatric-onset disease may represent a less virulent form of neuromyelitis optica spectrum disorder.

中文翻译：

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儿童和成人发病的水通道蛋白 4 免疫球蛋白 G 阳性视神经脊髓炎谱系障碍的比较：临床和影像学特征综述

背景

在大多数成年患者中鉴定出针对水通道蛋白-4 通道 (AQP-IgG) 的免疫球蛋白 G 抗体，将视神经脊髓炎区分为不同的疾病实体。AQP4-IgG 对视神经脊髓炎的高特异性使得能够识别具有非典型表现的血清反应阳性患者。视神经脊髓炎谱系障碍越来越多地在表现出临床受累模式超出视通路和脊髓传统界限的儿童中得到认可。

方法

这是一项单中心、回顾性评价，比较了经血清学证实诊断为 AQP4-IgG 阳性视神经脊髓炎谱系障碍的儿童和成人的人口统计学、临床/临床和实验室特征。

结果

在审查的 151 名患者图表中，12 名儿童发病和 31 名成人发病患者患有 AQP4-IgG 阳性视神经脊髓炎谱系障碍。小儿发病的视神经脊髓炎谱系障碍的平均年龄为 12 ± 3.58 岁，女性好发 (3:1)。儿科患者的脑干受累更为频繁（6/12 [50%]）；P  = .008）和间脑（3/12 [25%]；P  = .018）。在 12 名 (25%) 儿科发病患者中，只有 3 名可识别出先前的感染。此外，根据扩大的残疾状况量表计算的残疾在儿童发病病例中的严重程度低于成人发病病例，在他们最近的评估中 (0 [0-9]) vs 6.5 [0-10]；磷 = .005)。儿科发病患者也更有可能对使用皮质类固醇±静脉注射免疫球蛋白和/或血浆置换术治疗急性发作有反应（临床总体印象-变化量表：2.5 [1-4] vs 4 [1-6]，P  = .009 ）。

解释

这项回顾性研究能够比较和对比儿科和成人发病的视神经脊髓炎谱系障碍。相对于他们的成人同行，儿科发病的视神经脊髓炎谱系障碍患者更有可能对治疗产生反应，并且在随访中不太可能因疾病而残疾。因此，儿科发病的疾病可能代表一种毒性较小的视神经脊髓炎谱系障碍。