表现为双侧弥漫对称性脑白质病变的视神经脊髓炎谱系疾病一例并文献复习

Neuromyelitis optica spectrum disorders with bilateral diffuse symmetrical leukoencephalopathy:a case report and review of the literature

目的报道一例表现为双侧弥漫对称性脑白质病变的视神经脊髓炎谱系疾病(NMOSD)患者并复习相关文献,探讨具有双侧弥漫对称性脑白质病变影像表现的NMOSD患者的临床特点、诊断及治疗。方法总结2019-10-12就诊于中南大学湘雅医院神经内科的1例具有双侧弥漫对称性脑白质病变影像表现的NMOSD患者的临床资料和诊治过程。同时系统性回顾具有双侧弥漫对称性脑白质病变的NMOSD文献,分析此类疾病的临床表现、治疗及预后等情况。结果共检出6篇文献6例存在双侧弥漫对称性脑白质病变的NMOSD患者,包括本次报告1例共7例患者纳入分析。患者均为女性,首次发病年龄14~58岁〔中位数(四分位数)29(21,38)岁〕,发现脑白质病变的年龄为48~69岁〔中位数(四分位数)54(48,67)岁〕,病程9~37年,中位病程(四分位数)30(12,37)年。患者起始症状为视力下降5例,肢体无力2例。所有患者均有视神经炎发作,5例患者有脊髓炎发作,其中3例为纵向延伸的长节段横贯性脊髓炎。7例患者中有2例合并干燥综合征。所有患者均为水通道蛋白4(AQP4)抗体阳性患者。脑脊液异常5例,均寡克隆带阳性,微量蛋白升高1例,白细胞轻度增高1例。7例患者磁共振成像均存在双侧弥漫对称的脑白质病灶,均累及双侧对称皮质下、侧脑室旁,其中累及脑干、小脑及颞极各6例、累及基底节4例。急性发作期5例患者予糖皮质激素治疗,其中2例同时应用免疫球蛋白治疗;序贯治疗中应用硫唑嘌呤4例,应用糖皮质激素及吗替麦考酚酯各2例。随访期内1例发生了3次复发。7例患者总体残疾程度较高,5例患者有明显的视力受损,3例患者行走功能明显受损。结论表现为双侧弥漫对称性脑白质病变的NMOSD临床罕见,本组7例患者均为长病程女性患者,AQP4抗体均为阳性、脑脊液寡克隆带阳性率高,临床后期总体残疾程度较高。早期有效治疗可能减少弥漫对称性脑白质病变的发生,改善患者预后。

Objective We report a case of neuromyelitis optica spectrum disease(NMOSD)presenting with diffuse symmetrical white matter lesions and review the relevant literature to investigate the clinical features,diagnosis and treatment of NMOSD with diffuse symmetrical leukoencephalopathy.Methods We summarized the clinical data,diagnosis and treatment of a patient with NMOSD with diffuse symmetrical white matter lesions,who visited the Department of Neurology,Xiangya Hospital of Central South University on October 12,2019.We also systematically reviewed the literature of NMOSD patients with diffuse symmetrical white matter lesions and analyzed the clinical manifestations,treatment and prognosis.Results A total of 6 articles and 6 NMOSD patients diffuse symmetrical white matter lesions were retrieved.All these 7 patients(including this case)were included in the analysis.All of them were female,the age of first onset was 14-58 years,the median(interquartile range)age of onset was 29(21,38)years;the age of discovering white matter lesions was 48-69 years,the middle age(interquartile range)was 54(48,67)years;the disease duration was 9-37 years,and the middle(interquartile range)disease duration was 30(12,37)years.All patients had optic neuritis attacks,and 5 patients had myelitis attacks,including 3 patients with longitudinally extensive transverse myelitis.Two patients had Sjogren's syndrome.All patients were AQP4-IgG positive.Cerebrospinal fluid was abnormal in 5 cases with positive oligoclonal bands.Cerebrospinal fluid protein was elevated in 1 case,and cerebrospinal fluid white blood cells were slightly increased in 1 case.All 7 patients had diffuse symmetrical white matter lesions on magnetic resonance imaging,involving the symmetrical subcortical and paraventricular area.And brainstem,cerebellum and temporal pole were involved in 6 cases each,and basal ganglia were involved in 4 cases.Glucocorticoid therapy was carried out during acute attacks in five patients,and immunoglobulin was also used during acute attacks in 2 of those cases.Four patients were treated sequentially with azathioprine,two patients with glucocorticoid,and two patients with mycophenolate.Five patients had no relapse during the follow-up period,and one patient had 3 relapses during the follow-up period.Most patients had high disability,five patients had significant visual impairment,and three patients had severe walking dysfunction.Conclusions NMOSD presenting with diffuse symmetrical white matter lesions is rare in clinical practice.All 7 patients in this group were female and had long disease duration.All of them were AQP4-IgG positive,and had positive oligoclonal bands in cerebrospinal fluid,and high disability in the late stage.Early and effective treatment may reduce the occurrence of diffuse symmetrical white matter lesions and improve patient prognosis.