CAJ | 학술논문

目的分析儿童视神经脊髓炎(NMO)及视神经脊髓炎谱系疾病(NMOSD)的临床特征.方法回顾性分析2010年12月至2014年5月北京儿童医院神经科收治的10例NMO及NMOSD患儿的临床资料及影像学表现和随访资料.其中女7例、男3例,发病年龄0.8 ～13.8岁,中位数8.9岁;病程1.0～18.5个月,中位数1.5个月.结果 10例患儿中NMO8例,NMOSD 2例为长节段扩展性脊髓炎;4例为单相性病程,6例有复发.首发症状出现视神经炎者共8例(均为NMO患者),2例NMOSD患儿首发无视神经炎表现.9例有脊髓炎临床表现,1例为无症状的脊髓MRI异常.头颅MRI 7例异常(其中NMO6例,NMOSD 1例),其中中脑受累及双侧大脑半球多发片状异常信号各4例、延髓受累3例、丘脑和内囊后肢受累各2例、脑桥、小脑以及胼胝体受累各1例.5例有脑部症状,其中4例首发影像学改变类似于急性播散性脑脊髓炎,并伴有脑病表现.1例影像学改变类似多发性硬化.9例血清水通道蛋白4抗体阳性,1例合并系统性红斑狼疮.10例脑脊液寡克隆区带均为阴性.所有患儿急性期均给予大剂量甲泼尼龙联合静脉用免疫球蛋白冲击治疗,8例症状改善,2例无效者均行2次血浆置换治疗.7例患儿进行随访,中位随访时间19(13 ～30)个月.随访时扩展型残疾状态量表(EDSS)评分1～7分,中位数为3分.结论儿童NMO及NMOSD临床表现多样,除视神经炎及脊髓炎表现外,还可有脑部症状,可类似于急性播散性脑脊髓炎或多发性硬化,水通道蛋白4抗体的测定对鉴别诊断非常重要.
목적 분석인동시신경척수염(NMO)급시신경척수염보계질병(NMOSD)적림상특정.방법 회고성분석2010년12월지2014년5월북경인동의원신경과수치적10례NMO급NMOSD환인적림상자료급영상학표현화수방자료.기중녀7례、남3례,발병년령0.8 ～13.8세,중위수8.9세;병정1.0～18.5개월,중위수1.5개월.결과 10례환인중NMO8례,NMOSD 2례위장절단확전성척수염;4례위단상성병정,6례유복발.수발증상출현시신경염자공8례(균위NMO환자),2례NMOSD환인수발무시신경염표현.9례유척수염림상표현,1례위무증상적척수MRI이상.두로MRI 7례이상(기중NMO6례,NMOSD 1례),기중중뇌수루급쌍측대뇌반구다발편상이상신호각4례、연수수루3례、구뇌화내낭후지수루각2례、뇌교、소뇌이급변지체수루각1례.5례유뇌부증상,기중4례수발영상학개변유사우급성파산성뇌척수염,병반유뇌병표현.1례영상학개변유사다발성경화.9례혈청수통도단백4항체양성,1례합병계통성홍반랑창.10례뇌척액과극륭구대균위음성.소유환인급성기균급여대제량갑발니룡연합정맥용면역구단백충격치료,8례증상개선,2례무효자균행2차혈장치환치료.7례환인진행수방,중위수방시간19(13 ～30)개월.수방시확전형잔질상태량표(EDSS)평분1～7분,중위수위3분.결론 인동NMO급NMOSD림상표현다양,제시신경염급척수염표현외,환가유뇌부증상,가유사우급성파산성뇌척수염혹다발성경화,수통도단백4항체적측정대감별진단비상중요.
Objective To analyze the clinical characteristics of pediatric neuromyelitis optica (NMO) and neuromyelitis optica spectrum disorders (NMOSD).Method A retrospective analysis was performed evaluating clinical and laboratory characteristics of ten NMO and NMOSD children who were seen in our hospital from December 2010 to May 2014.Median age at onset was 8.9 years (range 0.8-13.8 years).Seven cases were female and three were male.Median disease duration was 1.5 months (range 1-18.5 months).Result Eight patients fulfilled diagnostic criteria for NMO and two patients fulfilled diagnostic criteria for NMOSD.The two NMOSD patients had recurrent longitudinally extensive transverse myelitis.Four cases had a monophasic disease course,and six cases had a recurrent course.In eight NMO patients,neuritis was the initial presentation.The two NMOSD patients had no neuritis in the first attack.Nine cases had clinical manifestations of myelitis,one case had asymptomatic spinal cord MRI anomaly.Among the ten patients,seven cases had brain lesions,wherein,four cases had the midbrain involvement and in four cases extensive hemispheric white matter was involved.Three cases had medullary involvement.And two cases had posterior limb of the internal capsule involvement,two cases had thalamus involvement.In one case there was pons,cerebellum or corpus callosum involvement,respectively.One case had accompanied brain symptoms.Of the five patients who had symptomatic brain lesions,four cases had encephalopathy accompanied by large hemispheric lesions on MRI,having a presentation similar to acute disseminated encephalomyelitis.And one case had multiple sclerosis like brain lesion.Of the ten patients tested,nine were seropositive for anti-aquaporin-4 autoantibody.One patient was complicated with systemic lupus erythematosus.Oligoclonal bands were negative in all cases.All patients received treatment for acute attacks with high-dose intravenous methylprednisolone and intravenous gammaglobulin.The symptoms of 8 cases mitigated.Two cases whose symptoms showed no sign of improvement received plasmapheresis for acute attacks.Seven of the patients were followed up.The median duration of follow-up was 19 months (ranged from 13 months to 30 months).The median Expanded disability status (EDSS) score was 3 (range 1-7).Conclusion Pediatric NMO and(or) NMOSD have a diverse clinical presentation which are more than just optic neuritis and transverse myelitis,including brain symptom.So it may be difficult to distinguish NMO and(or) NMOSD from acute disseminating encephalomyelitis and multiple sclerosis in the early stages of the disease.Antibodies to aquapoin-4 (AQP-Ab) testing is very important for differential diagnosis.