摘要目的 总结儿童视神经脊髓炎谱系疾病(NMOSD)临床特点及治疗效果.方法 对2013年1月至2018年6月于北京大学第一医院儿科住院的NMOSD患儿的临床资料和随访情况进行回顾性总结.分析其基本信息、每次发作的症状、影像学新病灶累及的部位和性质、脑脊液特点、血清学标志物、治疗及预后情况.共33例NMOSD患儿,其中男13例、女20例;中位起病年龄6.83(4.25,8.75)岁.比较水通道蛋白4抗体(AQP4-IgG)和抗髓鞘少突胶质细胞糖蛋白抗体(MOG-IgG)阳性的NMOSD差异,组间比较使用Mann-WhitneyU检验及Fisher精确检验;加用预防复发治疗前后年复发率的差异使用Wilcoxon检验比较.结果 33例NMOSD患儿无论首次还是至随访末127次发作中,视神经炎[首次占39％(13/33),所有发作中占49％(62/127)]和脊髓炎[首次占36％(12/33),所有发作中占26％(33/127)]均为前两位症状.42％(37/89)的患儿发作急性期头颅磁共振成像(MRI)存在幕上白质新病灶,其中43％(16/37)为急性播散性脑脊髓炎样或遗传性脑白质病样病灶.30％(10/33)的患儿血清AQP4-IgG阳性,55％(11/20)的患儿MOG-IgG阳性,无同时阳性病例.20例患儿使用利妥昔单抗预防复发,2例首次发作后加用,其余18例使用期间年复发率较加用前显著下降[0.28(0,1.13)比1.86(1.52,2.60)次/年,Z=-3.376,P=0.001].MOG-IgG阳性(11例)与AQP4-IgG阳性(10例)的NMOSD相比,不明原因的发热多见(8/40比0/33,P=0.007),延髓最后区症状少见(0/40比4/33,P=0.038);脑脊液细胞数多[49.0(17.5,115.0)×106/L比5.5(3.0,15.8)×106/L,Z=-3.526,P=0.000].结论 儿童NMOSD中视神经炎和脊髓炎为前两位症状,幕上白质受累多见,MOG-IgG阳性比率高.利妥昔单抗能明显降低儿童NMOSD的年复发率,但不同抗体相关NMOSD的治疗差异有待进一步研究.

abstractsObjective To explore clinical features and the effect of treatment of neuromyelitis optica spectrum disorders (NMOSD) in childhood.Methods Children who were hospitalized in Department of Pediatrics,Peking University First Hospital from January 2013 to June 2018 and meeting diagnostic criteria of NMOSD proposed by the International Panel for NMOSD Diagnosis in 2015 were summarized and followed up.The basic information,symptoms of each attack,locations and patterns of new lesions,features of cerebrospinal fluid,serologic markers,treatments and outcomes in these patients were analyzed.Thirty-three children were included in the study,with 13 males and 20 females.The median age of onset was 6.83 (4.25,8.75) years.Compared aquaporin-4 immunoglobulin G (AQP4-IgG) associated NMOSD with myelin oligodendrocyte glycoprotein immunoglobulin G (MOG-IgG) associated NMOSD.Mann-Whitney U test was used for continuous variables and Fisher test for categorical variables in comparison between AQP4-IgG and MOG-IgG associated NMOSD.Wilcoxon test was used for annualized relapse rate (ARR) before and after adding disease-modifying drugs.Results Optic neuritis (39％ (13/33) in initial attacks and 49％ (62/127) in total attacks) and myelitis (36％ (12/33) in initial attacks and 26％ (33/127) in total attacks) were the top two symptoms in both the initial attacks and all 127 attacks during follow-up.There was 42％ (37/89) of brain magnetic resonance imaging (MRI) scans in acute phase showing new lesions in supratentorial white matter,with 43％ (16/37) showing acute disseminated encepha lomyelitis (ADEM)-like or leukodystrophy-like patterns.AQP4-IgG was detected in 30％ (10/33) patients,and MOG-IgG was detected in 55％ (11/20) patients,with no combined positive case.In 20 patients treated with rituximab,two were treated after the initial attack.In the other 18 patients,the median annualized relapse rate decreased from 1.86 (1.52,2.60) before treatment to 0.28 (0,1.13) during treatment (Z=-3.376,P=0.001).Compared with AQP4-IgG associated NMOSD (10 cases),fever of unknown origin (8/40 vs.0/33,P=0.007) was more common,area postrema syndrome (0/40 vs.4/33,P=0.038) was fewer,cell count of cerebrospinal fluid (49.0 (17.5,115.0) ×106/L vs.5.5 (3.0,15.8)×106/L,Z=-3.526,P=0.000) was higher in MOG-IgG associated NMOSD (11 cases).Conclusions In childhood-onset NMOSD,optic neuritis and myelitis were top two symptoms.Childhood-onset NMOSD has high proportion of positive MOG-IgG.Lesions in supratentorial white matter are common.Rituximab could significantly decrease ARR of NMOSD in childhood.However,more studies should be conducted to explore the optimal treatment strategy in different antibody associated NMOSD.