视神经脊髓炎谱系疾病二例

视神经脊髓炎谱系疾病(neuromyelitis optica spectrum disorders,NMOSDs)特指一组潜在发病机制与视神经脊髓炎(neuromyelitis optica,NMO)相近,但临床受累局限不完全符合NMO诊断的相关疾病.NMOSDs临床表现多样,易造成误诊. 1 病例报告 病例1:患者女,24岁,以"反复纳差伴呕吐3个月,视物模糊、步态不稳半个月"入院.患者3个月前渐出现食欲下降伴顽固性呕吐.曾在消化内科拟诊为反流性食管病,行对症治疗但无明显改善;半个月前出现视物模糊,步态不稳.无幻觉及力弱,无吞咽困难及呛咳,无尿便障碍.     

视神经脊髓炎谱系疾病的临床异质性研究进展

视神经脊髓炎(neuromyelitis optica,NMO)/视神经脊髓炎谱系疾病(neuromyelitis optica spectrum disorders,NMOSD),虽然其名称中包含视神经和脊髓,但其并非视神经炎(optic neuritis,ON)和脊髓炎的简单组合,而是一组异质性疾病。NMO/NMOSD的异质性不但表现在其核心症状,也表现在其他神经系统症状和非神经系统症状,NMO/NMOSD的伴发疾病也存在异质性。同时,临床还存在特殊亚型的NMO/NMOSD和合并不同抗体的NMO/NMOSD亚型。目前,NMO/NMOSD的典型和非典型临床症状的判断处在动态变化之中,越来越多既往认为是罕见症状的临床表现已被发现是NMO/NMOSD的常见临床症状。新的临床症状也带来了关于NMO/NMOSD发病机制研究的一些提示。因此,对NMO/NMOSD异质性临床表现的研究有助于进一步认识这种疾病,并对其发病机制的研究带来启发。     

肠道菌群与视神经脊髓炎谱系疾病的相关性研究进展

人的肠道菌群是指存在于人体消化道中的一类数量巨大、种类繁多的微生物群,其对人体免疫稳态的建立和免疫系统功能的正常发挥起着极其重要的作用.视神经脊髓炎谱系疾病(NMOSD)是一组病因未明的中枢神经系统自身免疫性炎性脱髓鞘疾病,目前有研究发现肠道菌群可能与NMOSD发病相关.本文就肠道菌群与NMOSD的关系进行综述,以期为...     

全身免疫炎症指数与视神经脊髓炎谱系疾病活动的相关性

目的 探讨视神经脊髓炎谱系疾病(NMOSD)患者全身免疫炎症指数(SII)与NMOSD疾病活动的相关性。方法 回顾性收集2015年1月至2020年12月作者医院收治的NMOSD患者55例,其中男18例,女37例。另收集年龄、性别构成匹配的健康体检者100名作为对照组。比较NMOSD患者发作期(首发临床症状或临床复发1周内,n=55)、恢复期(随访6个月时,n=44)及对照组间SII以及白细胞计数、中性粒细胞绝对值、淋巴细胞绝对值、血小板计数的差异;比较NMOSD患者水通道蛋白4抗体(AQP4-Ab)阳性组和阴性组SII及白细胞计数、中性粒细胞绝对值、淋巴细胞绝对值、血小板计数的差异;采用受试者工作特征(ROC)曲线分析SII在预测NMOSD疾病活动性中的价值。结果 NMOSD患者发作期白细胞计数、中性粒细胞绝对值及SII显著高于恢复期和对照组(均P<0.01),淋巴细胞绝对值显著低于恢复期(P<0.05)和对照组(P<0.01)。而NMOSD患者恢复期白细胞计数、中性粒细胞绝对值、淋巴细胞绝对值及SII与对照组比较无统计学差异(P>0.05)。NMOSD患者AQ...     

视神经脊髓炎谱系疾病合并乳腺癌一例

<正>1病例报告患者女,61岁。因胸部瘙痒伴双下肢无力5d于2015-07-29入院。患者于入院5d前无诱因出现胸背部瘙痒,随后出现胸部束带感以及双下肢无力,以左下肢为重,逐渐不能行走。自发病来至入院小便正常,大便费力。既往2004-09因双下肢无力伴小便潴留诊断急性脊     

视神经脊髓炎谱系疾病误诊分析

目的加强对视神经脊髓炎谱系疾病(neuromyelitis optica spectrum disorders,NMOSD)影像特征、临床表现及诊断标准的认识,以尽量避免误诊。方法分析1例孝感市中心医院收治的NMOSD误诊病例的相关资料,并复习相关文献。结果本例为中年女性,因视力下降1个月入院,曾在外院诊断为缺血性视神经病变,予以相应治疗无效后至孝感市中心医院就诊,完善检查后确诊为NMOSD,并给予激素冲击等治疗后病情明显好转。结论 NMOSD临床较少见,对于有视神经炎、急性脊髓炎、最后区综合征表现或早期症状单一者,容易与其他疾病混淆。详细了解病史、仔细体格检查并完善相应部位影像学检查,有助于早期明确诊断并减少误诊。     

视神经脊髓炎谱系疾病单克隆抗体治疗新进展

视神经脊髓炎谱系疾病(neuromyelitis optica spectrum disorders,NMOSD)具有临床反复发作及发作后残疾叠加的特点,减少复发是NMOSD治疗的重点。在NMOSD免疫治疗策略选择中,与常规免疫抑制剂相比,生物制剂具有治疗高度选择性、起效快、长期副作用少等优点,目前单克隆抗体是治疗NMOSD最常用的生物制剂。不同单克隆抗体治疗NMOSD的靶点不同,疗效也有差异。探讨单克隆抗体在NMOSD治疗中的进展,有助于指导其在临床中的应用。基于此,本文对单克隆抗体在NMOSD治疗中的最新进展进行综述。     

视神经脊髓炎谱系疾病合并系统性红斑狼疮的临床特征分析

视神经脊髓炎谱系疾病( neuromyelitis optica spectrum disorder,NMOSD)是一种主要累及视神经及脊髓的中枢神经系统炎性脱髓鞘疾病,其发病主要与水通道蛋白 4 抗体( AQP4-IgG)介导的自身免疫应答反应有关[1].系统性红斑狼疮( systemic lupus erythem...     

视神经脊髓炎谱系疾病合并系统性红斑狼疮的临床特征分析

视神经脊髓炎谱系疾病(neuromyelitis optica spectrum disorder,NMOSD)是一种主要累及视神经及脊髓的中枢神经系统炎性脱髓鞘疾病,其发病主要与水通道蛋白4抗体(AQP4-IgG)介导的自身免疫应答反应有关[1].系统性红斑狼疮(systemic lupus erythematosu...     

Circulating regulatory B cell subsets in patients with neuromyelitis optica spectrum disorders

This study analyzed the populations of three different subsets of regulatory B cells (Bregs) in the peripheral blood mononuclear cells (PBMCs) of patients with neuromyelitis optica spectrum disorders (NMOSDs) and explored the relationship between the changes in these subsets of Bregs and the severity of NMOSD. A total of 22 patients with relapsed NMOSDs before treatment were recruited in our study, along with 20 age and gender-matched healthy controls, from May 2015 to March 2016. The percentages and numbers for three different subsets of Bregs including the CD19⁺CD24^hiCD38^hi, CD19⁺CD24^hiCD27⁺, and CD19⁺CD5⁺CD1d^hi populations were evaluated in parallel by flow cytometry. Afterwards, correlations between the change of three different subsets of Bregs and disease severity were analyzed. We found significantly lower percentages of CD19⁺CD24^hiCD38^hi and CD19⁺CD5⁺CD1d^hi Bregs in NMOSDs patients than in healthy individuals. In contrast, the CD19⁺CD24^hiCD27⁺ Bregs population was significantly higher in NMOSDs patients than in healthy individuals. However, the three different Bregs subsets showed no significant correlation with expanded disability status scale (EDSS) or annualized relapse rate (ARR). Our findings suggest that the subsets of Bregs may play complex roles in the pathogenesis of NMOSDs and are not correlated with clinical disease severity. Further insights into the potential role of subsets of Bregs could increase our basic knowledge of NMOSDs pathogenesis.     

视神经脊髓炎谱系病患者疼痛的初步研究

目的初步探讨视神经脊髓炎谱系病(NMOSD)患者相关的疼痛问题。方法收集57例NMOSD患者和51例多发性硬化(MS)患者的临床资料,采用数字疼痛强度量表(NRS)对患者疼痛程度及部位进行评估,对比分析两组疼痛发生情况、严重程度、部位及治疗情况。结果 NMOSD组患者疼痛发生率明显高于MS组患者(63.16%vs.35.29%,χ2=8.359,P=0.004)。NMOSD组患者痛性痉挛发生率与MS组差异无统计学意义(24.56%vs.11.76%,χ2=2.921,P=0.087)。NMOSD组患者的疼痛评分在0~8分,以中度疼痛为主[20例(55.56%)],MS组患者的疼痛评分在0~7分,以轻度疼痛为主[11例(61.11%)],但两组间轻度疼痛与中重度疼痛患者比例差异无统计学意义(36.11%vs.61.11%,63.89%vs.38.89%,χ2=3.038,P=0.081)。NMOSD组[16例/36例(44.44%)]及MS组[6例/18例(33.33%)]患者的疼痛部位均以躯干部位最常见。Logistic逐步回归分析显示NMOSD患者的疼痛程度与患者的性别、年龄、病程、发作次数、NMO-IgG及EDSS评分无相关性。结论疼痛在NMOSD患者中十分常见,其疼痛应受到重视,并应积极对症治疗。     

Myopathy associated with neuromyelitis optica spectrum disorders

Neuromyelitis optica spectrum disorders (NMOSD) were generally thought to affect only central nervous system and spare peripheral aquaporin-4 (AQP4)-expressing organs. In recent years, however, increasing evidence has shown that skeletal muscle is involved in NMOSD. We provided a comprehensive review of the relevant literature and summarized the clinical and pathological characteristics of myopathy associated with NMOSD. NMOSD-associated myopathy seems to be characterized by mild muscle symptoms with prominent hyperCKemia and minimal changes on conventional pathological staining. Loss of AQP4 and deposition of IgG and activated complement products on sarcolemma of type II fibers are diagnostic features on immunohistochemical examinations. Creatine kinase leakage as a result of AQP4-IgG-induced, complement-mediated sarcolemmal injury may be a potential mechanism for hyperCKemia. Myopathy should be considered a component of NMOSD unified by AQP4-IgG seropositivity.     

视神经脊髓炎谱系疾病患者脑脊液蛋白水平与致残状况的相关性研究

目的探讨视神经脊髓炎谱系疾病(Neuromyelitis optica disorders,NMOSDs)患者脑脊液蛋白与临床致残状况的关系及其临床意义。方法回顾性分析2010年1月~2016年2月我院神经内科确诊的108例NMOSD患者临床与生化资料,根据临床扩展致残量表评分(Expanded disability status scale,EDSS)将患者分为独立行走受限与不受限组,并比较两组患者间的临床、生化特征;根据脑脊液蛋白值将患者分为脑脊液蛋白正常组与异常组,并比较两组间EDSS评分的变化;分析脑脊液蛋白与临床致残状况的相关性。结果独立行走受限组与不受限组之间患者年龄、二便障碍、外周血白细胞(WBC)、中性粒细胞比(N%)、脑脊液蛋白、脑脊液Ig G较有统计学差异(P0.05);性别、病程、视力损害、AQP4抗体、24 h鞘内合成率、寡克隆带比较无统计学差异(P0.05),两组不同脑脊液蛋白水平与患者EDSS值比较有统计学差异(T=3.13,P=0.002);脑脊液蛋白水平与独立行走受限呈正相关(r=0.286,P0.01)。结论 NMOSD患者脑脊液蛋白值越高,患者致残发生的可能性越大,脑脊液蛋白有助于视神经脊髓炎谱系疾病患者致残状况的病情评估。     

Rituximab reduces attacks in Chinese patients with neuromyelitis optica spectrum disorders

We evaluated the safety and efficacy of rituximab in seven Chinese patients with neuromyelitis optica (NMO) or neuromyelitis optica syndrome disorders (NMOSD) in a tertiary medical center in Hong Kong. After rituximab induction, five patients became relapse-free and two had 50% reduction of relapses over a median follow-up of 24 months. No further deterioration of functional status, measured by the Expanded Disability Status Scale, was observed in all patients. Infusions were well tolerated except in two patients who developed transient hypotension. Rituximab reduced clinical relapse and prevented neurological deterioration in a small cohort of Chinese patients with NMO or NMOSD.     

Temporal dynamics of cerebrospinal fluid anti-aquaporin-4 antibodies in patients with neuromyelitis optica spectrum disorders

Neuromyelitis optica spectrum disorders (NMOSD) are associated with anti-aquaporin-4 autoantibodies (AQP4-IgG). Limited data is available on longitudinal cerebrospinal fluid (CSF) AQP4-IgG and their relation to disease activity and inflammatory parameters. AQP4-IgG titers were measured in matched longitudinal serum and CSF samples of 12 patients with NMOSD by an immunofluorescence assay and correlated with clinical parameters. CSF AQP4-IgG were present in patients with high serum titers and correlated with spinal MRI lesion length and CSF parameters. Clinical improvement was associated with a decrease in CSF, but not serum, AQP4-IgG titers. Thus, CSF AQP4-IgG were associated with clinical activity and neuroinflammation.     

Pencil-thin ependymal enhancement in neuromyelitis optica spectrum disorders

AQP4 water channels are thought to be the target of autoimmune attack in neuromyelitis optica-spectrum disorders (NMOsd). AQP4 are highly expressed on ventricular ependyma. The objective of this study was to describe a novel pattern of linear, 'pencil-thin' enhancement of ventricular ependyma in NMOsd. We report two NMOsd patients with pencil-thin ependymal enhancement along the frontal and occipital horns of lateral ventricles. Differential diagnosis of ependymal enhancement should include NMOsd alongside with infectious and neoplastic etiologies. Pencil-thin ependymal enhancement may be a helpful radiological marker of NMOsd that can be used to differentiate this condition from multiple sclerosis.