视神经脊髓炎的临床特征

目的探讨视神经脊髓炎(NMO)的临床特征。方法回顾分析18例NMO患者的临床资料。结果本组复发型NMO15例(83.3%),女性16例(88.9%),平均发病年龄36岁。所有患者双眼同时或先后出现视力减退,均有横贯性脊髓损害表现。MRI检查显示病灶位于颈髓4例、胸髓6例、颈、胸髓均受累5例,脊髓病灶长度≥3个椎体13例,出现脑部病灶6例。本组每例发病次数平均5次,遗留轻度功能残疾7例、中度功能残疾7例、重度功能残疾2例,死亡2例。结论NMO以复发型多见,女性多见,以双侧视神经受累及长节段脊髓炎为主要临床表现,部分患者出现脑部病灶。NMO复发率高,预后较差。     

Recurrent HyperCKemia with Immunological Involvement of the Endomysial Capillaries in Neuromyelitis Optica

A 55-year-old woman with neuromyelitis optica (NMO) had recurrent myalgias with hyperCKemia. A muscle biopsy suggested nonspecific myopathic changes. Regarding immunohistochemistry, the expression of both major histocompatibility complex class I and myxovirus resistance protein A was observed in the endomysial capillaries, suggesting immunological involvement of these capillaries, whereas both C5b9 (membrane attack complex) and aquaporin 4 immunofluorescence stainings were normal. The present findings led us to conclude that one possible mechanism for hyperCKemia in NMO underlying the immunological involvement of the endomysial capillaries was an as-yet-unidentified factor that triggered damage to the integrity of the sarcolemma and thereby cause CK leakage into the serum.     

Anti‐aquaporin‐4 antibodies in the context of assorted immune‐mediated diseases

Background and purposes: Anti‐aquaporin 4 antibodies are specific markers for Devic‘s disease. This study aimed to test if this high specificity holds in the context of a large spectrum of systemic autoimmune and non‐autoimmune diseases. Methods: Anti‐aquaporin‐4 antibodies (NMO‐IgG) were determined by indirect immunofluorescence (IIF) on mouse cerebellum in 673 samples, as follows: group I (clinically defined Devic’s disease, n = 47); group II [inflammatory/demyelinating central nervous system (CNS) diseases, n = 41]; group III (systemic and organ‐specific autoimmune diseases, n = 250); group IV (chronic or acute viral diseases, n = 35); and group V (randomly selected samples from a general clinical laboratory, n = 300). Results: MNO‐IgG was present in 40/47 patients with classic Devic’s disease (85.1% sensitivity) and in 13/22 (59.1%) patients with disorders related to Devic’s disease. The latter 13 positive samples had diagnosis of longitudinally extensive transverse myelitis (n = 10) and isolated idiopathic optic neuritis (n = 3). One patient with multiple sclerosis and none of the remaining 602 samples with autoimmune and miscellaneous diseases presented NMO‐IgG (99.8% specificity). The autoimmune disease subset included five systemic lupus erythematosus individuals with isolated or combined optic neuritis and myelitis and four primary Sjögren’s syndrome (SS) patients with cranial/peripheral neuropathy. Conclusions: The available data clearly point to the high specificity of anti‐aquaporin‐4 antibodies for Devic’s disease and related syndromes also in the context of miscellaneous non‐neurologic autoimmune and non‐autoimmune disorders.     

视神经脊髓炎患者HLA-DPB1等位基因多态性的研究

目的探讨视神经脊髓炎（neuromyelitis optica，NM0）患者人类白细胞抗原（HLA）-DPBl等位基因的多态性。方法采用基于测序的分型方法（sequence-based typing，SBT）分析13例NMO患者的HLA-DPBl等位基因的多态性。结果13例NMO患者中共检测到6种HLA-DPBl等位基因片段。HLA-DPBl^＊0501的频率显著高于HLA-DPBl^＊0201、HLA-DPBl^＊0202、HLA-DPBl^＊0301、HLA-DPBl^＊1301、HLA-DPBl^＊2101（P〈0．05）。结论在NMO患者的HLA-DPBl等位基因多态性的研究中，HLA-DPBl^＊0501的频率显著高于其他，推测HLA-DPBl^＊0501可能与NMO的易患性有关。     

Neuromyelitis optica-IgG testing in an Indian cohort with neuromyelitis optica and related demyelinating disorders: Our experience

Background:

Neuromyelitis optica (NMO) is an immune-mediated inflammatory demyelinating disorder of the central nervous system with a predilection for the optic nerves and the spinal cord. Immunopathological evidence suggests that the target antigen of the disease is aquaporin-4. An IgG antibody against this protein has been explored as a molecular marker for the disease and as a diagnostic tool due to its high sensitivity and specificity in various populations.

Objective:

To assess the value of NMO-IgG testing in Indian patients with clinical and magnetic resonance imaging features consistent with NMO and longitudinally extensive transverse myelitis (LETM).

Materials and Methods:

Forty-five patients with clinical and magnetic resonance imaging features consistent with NMO, LETM, and MS were tested for serum NMO-IgG. Of these patients, 22 patients satisfied revised (2006) Wingerchuk criteria for NMO (excluding NMO-IgG status) and 11 patients had LETM. Twelve patients satisfied the revised (2010) McDonald criteria for multiple sclerosis (MS).

Results:

Of the 21 patients, satisfying the criteria for NMO and for whom the test results were available, 17 were positive for NMO-IgG (80.9%), and of the 11 patients having LETM, 6 (54.5%) were positive for NMO-IgG. In one patient with NMO, the test result was not available. None of the 12 patients satisfying McDonald criteria for MS showed NMO-IgG seropositivity.

Conclusion:

Our study suggests that it is worthwhile to pursue NMO-IgG testing as a diagnostic tool for patients with clinical and Magnetic Resonance Imaging (MRI) features consistent with NMO and LETM in the Indian population.     

预后较好的视神经脊髓炎1例(英文)

患者,男性,马来人,26岁,以突发左眼视神经炎首诊,给予静脉甲基强的松龙治疗,3wk后完全缓解。1wk后,两次突发右眼视神经炎,Lhermitte征和Uthoff征呈阳性。第3d,患者双侧下身瘫痪,T8水平感觉丧失,症状进行性恶化,至第5d患者卧床不起。MRI检查显示双侧视神经增宽,胸髓至腰髓、脑干及少量大脑半球可见多节段性长的脱髓鞘斑块。迅速给予静脉甲基强的松龙初始大剂量治疗,继而口服强的松龙,并且进行密切的神经理疗。3mo后患者康复,可以借助辅助行走器行走。7mo后患者完全康复,能够重新开始其网站联系人的工作。在随后的1a随访期,病情未复发,患者最终视力提高,右眼6/9,左眼6/6,右眼视野表现永久性轻度中心盲点性暗点和普遍性视敏度降低。     

Characteristics of Devic's disease (neuromyelitis optica) in Mexico

OBJECTIVE: To report clinical and epidemiological data of Devic's disease in Mexico. DESIGN : Retrospective study of hospital case records. SETTING: The medical records were those of the National Institute for Neurology and Neurosurgery (INNN), a tertiary care referral center in Mexico City. PATIENTS: There were 424 medical histories available for review among 561 discharges with diagnoses of multiple sclerosis (MS), neuromyelitis optica (NMO), or equivalents. 390 met the diagnostic criteria of MS and 34 the NMO criteria. MAIN OUTCOME MEASURES: We recorded clinical signs, visual acuities, and the Expanded Disability Status Scale (EDSS) at the initial diagnostic admission and during follow-up. All patients had examination of cerebrospinal fluid (CSF) at diagnosis; head and spine magnetic resonance imaging (MRI) were performed at diagnosis and at follow-up. RESULTS: All 34 patients were Mexican Mestizos, who comprise 79 % of the residents of Mexico City. There were 23 monophasic and 11 relapsing cases. Intervals between initial and defining events for the 8 ON and 12 myelitis onsets were 17 and 24 months (means) and 15 and 17 months (medians), respectively. Mean follow- up from onset was 70.2 months and 42.9 months from diagnostic examination. No patient showed improvement in EDSS scores. Visual loss was severe. CONCLUSION: A provisional prevalence rate of about 1 per 100,000 population for NMO in Mexican Mestizos might be offered. The disease seems more severe in our population than in other recent series.