视神经脊髓炎谱系疾病患儿的临床及影像学特征

Clinical and imaging characteristics of pediatric neuromyelitis optica spectrum disorders

目的探讨视神经脊髓炎谱系疾病（NMOSD）患儿的临床及影像学特征。方法回顾性分析2013年7月至2017年9月山东大学附属省立医院小儿神经科收治的16例NMOSD患儿的临床资料、影像学表现及随访资料。结果16例患儿中首发症状为视神经炎（ON）5例，长节段横贯性脊髓炎（LETM）6例，ON及LETM同时发生者3例，初诊为急性播散性脑脊髓炎者2例。11例患儿行血清水通道蛋白-4（AQP4）抗体检查，4例阳性；7例患儿同时行脑脊液AQP4抗体检查，1例阳性。14例ON患儿中11例行视神经磁共振成像（MRI）检查，8例显示视神经、视交叉异常信号，部分有强化。13例LETM患儿行脊髓MRI检查，显示为长节段（长度5～13个椎体节段）炎性病灶，颈段1例，胸段3例，颈段＋胸段9例，其中2例颈段向上波及延髓。15例患儿行颅脑MRI检查，均显示有颅内病灶，主要分布于大脑半球中央及皮质下白质、丘脑、胼胝体、脑干、脊髓延髓交界处、小脑等。患儿急性期均予大剂量甲泼尼龙和/或丙种球蛋白治疗，症状均得到明显改善。2例ON复发患儿应用利妥昔单抗治疗后视力明显改善。随访15例患儿，2例存在肢体活动障碍，4例残留视力障碍，其余无临床症状。结论儿童NMOSD早期临床表现多样，首次诊断为急性脊髓炎、ON、急性播散性脑脊髓炎者，需考虑有无NMOSD的可能，检测AQP4抗体有助于明确诊断。NMOSD患儿典型的影像学特点为AQP4高表达区域的异常信号。急性期治疗推荐大剂量甲泼尼龙和丙种球蛋白，对于多次复发患儿可应用利妥昔单抗。

Objective To analyze the clinical and imaging characteristics of pediatric neuromyelitis optica spectrum disorders（NMOSD） in children. Methods The clinical data,imaging manifestations and follow- up data of 16 NMOSD patients at Department of Pediatric Neurology ,Shandong Provincial Hospital Affiliated to Shandong University between July 2013 and September 2017 were respectively analyzed. Results In 16 patients, initial presentations included optica neuritis （ON） in 5 cases, longitudinally extensive transverse myelitis （ LETM ） in 6 cases, and among them there were 2 cases with acute disseminated encephalomyelitis and 3 cases with both ON and LETM. Eleven cases received aquaporin - 4 （AQP4） antibody examination and 4 cases were found seropositive. One case out of 7 detected cases was found AQP4 antibody positive in cerebrospinal fluid. Eleven cases received optica magnetic resonance imaging （MRI） ,and 8 cases were found abnormal signals in optic nerve and optica chiasma. The spinal cord MRI showed 13 cases with LETM manifestations, and abnormal signals were found in vertebral segments （5 -13 ）, and among them 1 case had cervical cord,3 cases were thoracic cord and 9 cases were both of the above. Lesions in the cervical cord in 2 cases were extended upward to the medulla. Fifteen cases received brain MRI and all of them had brain lesions, which were mainly involved in the central and subcortical white matter, thalamus, corpus callosum, brainstem, the junction of spinal cord and medulla, cerebellum, and so on. All patients received treatment for acute attacks with high - dose Methylpred- nisolone and/or gamma globulin and got obvious relief. Two cases with recurrent ON received treatment of Rituximab and their vision became improved. Fifteen patients were followed up, and 2 cases had limb disorders and 4 cases had visual impairment,other patients had no clinical symptoms. Conclusions Pediatric NMOSD has a diverse clinical pre-sentation at the onset disease. Those who are initial diagnosed acute myelitis, ON and acute disseminated encephalomyelitis should be considered the possibility of NMOSD. Antibody to AQP4 testing can assist the diagnosis. The typical imaging characters of NMOSD children are abnormal signals in the high expression area of AQP4. Intracranial lesions are more common in children. The acute treatment includes the high - dose Methylprednisolone and gamma globulin. Rituximab can be used for the recurrent patients.