Neuromyelitis optica spectrum disorder (NMOSD) is an autoimmune condition driven by aquaporin-4 immunoglobulin G (AQP4-IgG). The current treatment paradigm focuses on mitigating clinical relapses and disability accumulation, leaving the underlying serological activity unaddressed. This study evaluated the capacity of satralizumab to achieve a comprehensive remission, as defined by the Serological, Relapse, and Accumulated-disability Remission (SERA-3) target. In this multicenter, real-world cohort study, patients with NMOSD from three tertiary centers in China initiating satralizumab were enrolled. AQP4-IgG levels were measured at baseline, 6, and 12 months. Clinical efficacy [annualized relapse rate (ARR), Expanded Disability Status Scale (EDSS)] and safety were evaluated. Heterogeneity in antibody response was analyzed, and baseline characteristics potentially associated with titer reduction were explored. Of the 19 patients who were AQP4-IgG seropositive at baseline, 7 (36.84

Background Severe disabling attacks neuromyelitis optica spectrum disorders (NMOSD) severely affect patients' quality of daily life and life safety. Methods This retrospective study enrolled consecutive Chinese patients suffering from NMOSD who visited the China-Japan Friendship Hospital (Beijing, China) between October, 2010 and February, 2023. Correlation analysis was used to perform feature selection. The prediction model was constructed using the support vector machine (SVM) and extreme gradient boosting (XGBoost) algorithm. Results A total of 356 patients (mean [SD] age, 34.45[15.22] years) and 1291 NMOSD attacks were eligible for this study. ON and age were positively and linearly correlated, and TM and age were negatively and linearly correlated. Throbbing headache and neuralgia showed a significant linear relationship with disabling episodes, and circumventricular organ- area postrema syndrome (CVO-APS) showed a significant linear relationship with disabling episodes only in a few cases. We select top three high correlation variable (HCV) for predicting ON and TM models. Then, we constructed prediction models based on the XGBoost using age as a feature, and HCV and warning symptoms (WS) as features respectively. The ML models showed reasonable predictive performance for ON (Age + WS: AUC, 0.809; Age + HCV: AUC, 0.787) and TM (Age + WS : AUC, 0.817; Age + HCV: AUC, 0.854) We also constructed the first prediction model about severe NMOSD attacks using XGBoost and SVM. Among them, the fundamental model incorporated the 16 features with AUC of Xgboost: 0.830 and SVM: 0.775. On the basis of the fundamental model, we also incorporated the results of nadir and remission the expanded disability status scale (EDSS) or visual outcome scale (VOS) from the last time attack as features to construct 12 optimized models. As a whole, the optimized models showed higher predictive performance for severe attack. The AUC for the model adding the nadir EDSS scores as features were XGBoost: 0.862, SVM: 0.741, adding the nadir VOS scores as features were XGBoost: 0.870, SVM: 0.723, adding the remission EDSS scores as features were XGBoost: 0884, SVM: 0.806, adding the remission VOS scores as features were XGBoost: 0.9998, SVM: 0.700, adding both nadir and remission EDSS scores as features were XGBoost: 0.899, SVM: 0.794, adding both nadir and remission VOS scores as features were XGBoost: 0.905 and SVM: 0.705. Conclusion This study innovatively identified associations between disabling attacks of NMOSD and age, warning symptoms and developed an easy-to-use, less costly and less invasive machine learning model for predicting NMOSD disabling attack symptoms and severe attacks.

BackgroundRituximab (RTX), an anti-CD20 monoclonal antibody, has shown promise in managing neuromyelitis optica spectrum disorders (NMOSD) by depleting B cells and reducing relapses. However, there is no consensus on the optimal RTX dosing regimen, and genetic factors, such as FCGR3A-V158F polymorphism, may influence treatment outcomes. This study investigates how FCGR3A-V158F genotypes influence RTX efficacy in Chinese NMOSD patients under varying dosing regimens and aims to optimize treatment protocols.MethodsWe conducted a retrospective analysis of 25 Chinese NMOSD patients treated with RTX, grouped into standardized and low-dosage regimens. FCGR3A-V158F genotypes were determined, and treatment responses were evaluated, including relapse rates, time to first relapse (TFR), B-cell depletion, dose adjustments, and treatment retention.ResultsAmong all patients, 15 received standardized dosages, while 10 received varied induction doses (500 mg to 1200 mg) in low-dose regimens. For FCGR3A-V158F genotypes, 15 had the FF genotype, and 10 were V carriers (3 VV genotype, 7 VF genotype). Regardless of dosing, FF genotype patients had a higher relapse rate post-RTX treatment compared to V carriers (P < 0.05). None of the 3 VV genotype patients in either dose group experienced relapses post-RTX. In both dose groups, FF genotype patients had significantly shorter TFR and required more RTX dose adjustments post-RTX treatment compared to V carriers in the standardized dosage group (P < 0.05). FF genotype patients in the low dosage group were more likely to experience insufficient B-cell depletion, had lower treatment retention rates, and more discontinuations than V carriers in the standardized dosage group (P < 0.05). Insufficient B-cell depletion significantly predicted clinical relapses after RTX treatment (P < 0.05). In survival analysis, FF genotype patients, regardless of dosing, experienced earlier relapses post-RTX treatment (P < 0.05).ConclusionsThis study highlights the importance of RTX dosage selection in NMOSD treatment, particularly for FCGR3A-FF genotype patients. Standard-dose RTX therapy with vigilant monitoring of peripheral blood B-cell levels is recommended for these individuals to optimize treatment efficacy.

Background: Neuromyelitis optica spectrum disorder (NMOSD) is a devastating autoimmune disorder with cycles of escalating relapse. Rates of diagnosis in the elderly are increasing. Therapeutic decision-making is more challenging in elderly patients due to multiple comorbidities and high risk of drug-induced side effects. Objective: This retrospective study assessed the efficacy and safety of standard plasma exchange (PLEX) treatment in an elderly population with NMOSD. Design: Seventy-six patients with NMOSD who received PLEX were apportioned to two groups as either elderly (⩾60 years, n = 26) or young (<60 years) at the time of the first procedure. Methods: Therapeutic response was judged according to functional recovery at 6 months, as reflected by Expanded Disability Status Scale (EDSS) and visual outcome scale (VOS) scores. Results: The mean age of the 26 elderly patients was 67.7 ± 7.9 years (range 60–87 years); the population was predominantly female (88.5%). PLEX sessions were generally well tolerated among the elderly. Compared with the young patients, the elderly had significantly more comorbidities and concomitant medications. Twenty-four (96.0%) elderly patients showed functional improvement at 6 months after PLEX, of which 15 (60.0%) experienced moderate-to-marked improvement. Six months after the initial PLEX treatment, the patients overall experienced a significant improvement in EDSS and VOS scores. Logistic regression showed that severe optic neuritis attack was a significant independent prognostic factor associated with poor PLEX response. The groups were comparable regarding overall or serious adverse events. The rate of transient hypotension was significantly higher in the elderly compared with the young. Conclusion: PLEX is an effective and safe therapy for elderly patients with NMOSD and should be considered a treatment option during NMOSD attacks. In the elderly, preventive measures against hypotension are recommended before PLEX.

BackgroundElderly-onset neuromyelitis optica spectrum disorder (NMOSD) is a rare entity that poses a therapeutic challenge. We report a case of elderly-onset NMOSD with mutant FCGR3A genotype who was successfully treated with ofatumumab after multiple episodes of relapse.Case ReportThe patient was a 67-year-old woman who was diagnosed with NMOSD with high disease activity. She experienced six episodes of relapse over a period of 2 years despite immunosuppressant therapy with intravenous rituximab (RTX), oral steroids, mycophenolate mofetil, and tacrolimus. At the last relapse, she was unable to walk and developed immunosuppressant-induced hypogammaglobulinemia. Based on the insufficient B cell depletion and FCGR3A-FF genotype carrier, the patient was diagnosed as RTX non-responder. After subcutaneous ofatumumab plus intravenous immunoglobulin replacement therapy, she was able to walk independently, and experienced no further relapse. Ofatumumab was well-tolerated, and sufficiently depleted the circulating B cells.ConclusionOfatumumab might be an effective alternative in RTX-unresponsive NMOSD, and seems to be safe in elderly patients.

Objective: To analyze the clinical characteristics of neuromyelitis optical associated optic neuritis (NMO-ON) patients, and to provide reference and basis for the prevention and treatment accordingly. Methods: The medical records of 72 NMO patients with ON as the first clinical manifestation in China-Japan Friendship Hospital from January 2016 to December 2019 were retrospectively analyzed and summarized, including general information, morbidity characteristics, course of disease, comorbid diseases, immunological tests, treatment response and prognosis, etc. Results: Totally 72 NMO-ON patients had a median age of 33 years. The ratio of male to female is about 1:5.54; The median course was 67 months, mainly "relapse-remission". Totally 61.11％ patients were successively involved in both eyes, the median incidence of ON was 2 times, and the median time of the second onset of ON was 3 months. The 1-year and 3-year recurrence rates were 55.56％ and 73.61％, respectively. Around 91.67％ of the patients had the onset of ON alone, and 81.94％ of the patients had monocular involvement. About 19.44％ patients were associated with inducement, the most common was upper respiratory tract infection; 15.28％ patients were associated with systemic immune diseases, most commonly associated with Sjogren's syndrome and thyroid diseases and 75.64％ patients had first visual acuity less than 0.1, aquaporin-4 immunoglobulin G (AQP4-IgG) status (P=0.032, OR =2.55) and onset age (P=0.037, OR=3.93) were independent risk factors for first visual acuity. Up to the last follow-up time, the rate of unilateral blindness was about 48.61％, and the median of unilateral blindness ON was 2 times. Other nervous system involvement occurred in 73.61％ of patients, and spinal cord (61.11％) was the most common site of recurrence. Serum AQP4-IgG was positive in 80.00％ (48/60) of patients. A total of 18 cases (25.00％) were associated with other systemic immune antibodies, most commonly associated with ANA antibody positivity. Conclusions: The first onset of NMO-ON patients is mostly ON alone, with unilateral involvement and high incidence in young and middle-aged women. Bilateral optic nerve involvement and repeated recurrence are common in the long course of disease. AQP4-IgG status and onset age are independent risk factors affecting the visual function of NMO patients for the first onset, and most patients have positive AQP4-IgG serum. Some patients are associated with systemic immune diseases represented by Sjogren's syndrome and thyroid disease, which are at high clinical risk and require early diagnosis and treatment intervention.

目的:分析视神经脊髓炎相关性视神经炎(neuromyelitis optical associated optic neuritis,NMO-ON)患者的临床特点,为防治该类疾病提供参考和依据.方法:对2016年1月～2019年12月就诊于中日友好医院的72例以ON为首发临床表现的NMO患者病历资料进行回顾性分析总结,包括一般资料、发病特点、病程进展、合并疾病、免疫学检验、治疗反应及预后等.结果:72例NMO-ON患者,发病年龄中位数33岁;男女比约为1:5.54;病程中位数67个月,以"复发-缓解"为主.61.11％患者双眼先后累及,ON发病次数中位数为2次,ON二次发作时间中位数是3个月;1、3年复发率分别约55.56％和73.61％;91.67％患者单独ON起病,ON累及单眼者占81.94％;19.44％患者伴诱因,最常见为上呼吸道感染;15.28％患者伴系统性免疫性疾病,最常伴发干燥综合征及甲状腺疾病;75.64％患者首发视力小于0.1,抗水通道蛋白4抗体(aquaporin-4 immunoglobulin G,AQP4-IgG)状态(P=0.032,OR=2.55)和发病年龄(P=0.037,OR=3.93)是影响患者首发视力的独立危险因素;至末次随访时间,单侧致盲率约48.61％,致患者单侧致盲ON发作中位数为2次;73.61％患者出现其他神经系统的累及,脊髓(61.11％)是最常见的复发部位.80.00％(48/60)患者血清AQP4-IgG阳性;18例(25.00％)伴其他系统性免疫性抗体,最常见伴ANA抗体阳性.结论:NMO-ON患者首次发病多ON单独起病,单侧累及,女性中青年高发,漫长的病程多见双侧视神经受累及多次复发,AQP4-IgG状态和发病年龄是影响NMO患者首次发病视功能的独立危险因素,大多数患者AQP4-IgG血清阳性,部分患者伴发以干燥综合征和甲状腺疾病为代表的系统性免疫性疾病,该病临床高危,需要及早进行明确诊断和治疗干预.

Objective: To explore the clinical effect of acupuncture combined with traditional Chinese medicine on optic nerve atrophy caused by neuromyelitis optic (NMO). Methods: the patients with optic atrophy caused by NMO with optic neuritis who visited the ophthalmology or neuro-ophthalmology clinic of our hospital from March 2016 to December 2019 were collected. The patients were treated with acupuncture and traditional Chinese medicine for 8 weeks before and after treatment. The best corrected visual acuity and dynamic visual field were tested before treatment, 4 weeks and 8 weeks after treatment, respectively, to evaluate the effect of acupuncture combined with traditional Chinese medicine on the visual function of patients; Results: after 4 weeks of treatment, the visual acuity of 8 eyes improved more than 2 lines, the total effective rate was 91.67％. after 8 weeks of treatment, the visual acuity of 12 eyes improved more than 2 lines, the total effective rate was 100％; after 4 weeks of treatment, the mean defect (MD) and mean sensitivity (MS) of dynamic visual field were improved, but the difference was not statistically significant (MD:t=1.579,P=0.121;MS:t=-1.500,P=0.140); after 8 weeks of treatment, the MD was significantly decreased (t=2.65,P<0.05), and the MS was significantly improved and statistically significant (t=-2.58, P<0.05). Conclusion: the combination of acupuncture and Chinese medicine can significantly improve the visual function of patients with optic atrophy caused by NMO, improve the best corrected visual acuity and dynamic visual field sensitivity, and reduce the visual field defect.

目的:探究针药联合治疗视神经脊髓炎(NMO)所致视神经萎缩的临床疗效.方法:收集2016年3月～2019年12月就诊于本院眼科或者神经眼科门诊的以视神经炎(ON)为主要临床表现的NMO所致视神经萎缩患者21例(24眼),以患者自身治疗前后为对比,纳入后接受针刺和中药治疗8周,分别于治疗前和治疗后4周、8周进行最佳矫正视力和动态视野检测,评价针药联合对患者视功能的影响.结果:24眼治疗4周后有8只眼视力提高≥2行,总有效率91.67％,治疗8周后有12眼视力提高≥2行,总有效率100.00％;治疗4周,患者动态视野平均缺损度(MD)及平均敏感度(MS)较前改善,但与治疗前相比,差异无统计学意义(MD:t=1.579,P=0.121;MS:t=?1.500,P=0.140);治疗8周后患者MD显著下降(t=2.65,P<0.05),MS明显提高(t=?2.58,P<0.05),差异均有统计学意义.结论:针药联合可显著提高以ON为主要表现的NMO所致视神经萎缩患者的视功能,明显提高患者最佳矫正视力和动态视野敏感度,降低患者视野缺损.

目的 分析并总结视神经脊髓炎谱系疾病患者的临床特点,为临床诊治提供参考依据.方法 回顾性分析中日友好医院神经眼科联合门诊2016年3月至2018年12月收治的75例视神经脊髓炎谱系疾病患者,对患者的一般情况、临床症状特点、实验室检查以及影像学检查结果 进行分析,以及对比水通道蛋白4(aquaporin-4,AQP4)-IgG阳性和AQP4-IgG阴性患者的临床症状异同点.结果 75例患者中,男12例、女63例,男女比例接近为1:5,发病年龄7～77岁,病程1个月～30 a,发病次数1～20次,16例(21.3％)患者起病前有明显诱因,其余59例(78.7％)患者无明显诱因发病.首次发病症状视神经炎发病28例(37.3％),脊髓炎发病18例(24.0％),视神经和脊髓同时受累19例(25.3％),颅内发病10例(13.3％),有19例患者伴随其他疾病,包括干燥综合征、系统性红斑狼疮等;45例(60.0％)患者检测了视神经脊髓炎特异性抗体(AQP4-IgG),其中31例(68.9％)患者呈现AQP4-IgG阳性表现,13例(28.9％)患者呈现AQP4-IgG阴性表现,尚有1例(2.2％)患者呈现髓鞘少突胶质细胞糖蛋白抗体阳性表现.结论 视神经脊髓炎谱系疾病多发于女性,大部分患者无明显诱因起病,复发率较高,首发病症累及视神经为主,其特异性抗体AQP4-IgG阳性患者多见,应予以早期诊断和治疗.

目的:探讨血浆置换治疗超晚发型视神经脊髓炎谱系疾病(VLONMOSD)的有效性和安全性.方法:回顾分析中日友好医院2013年11月～2019年11月收治的3例确诊为视神经脊髓炎谱系疾病(NMOSD)的超晚发型患者(发病年龄≥75岁)应用血浆置换(PE)的疗效与安全性.结果:3例患者中2例女性,1例男性,首次发病年龄分别为78岁、77岁、76岁,PE年龄分别为82岁、77岁、76岁,PE平均年龄78.3岁.共计4次发作应用PE治疗,其中3次为横贯性脊髓炎(TM)发作,1次为视神经炎(ON),例2的ON发作和例3的1次TM发作首选静脉滴注甲泼尼龙冲击无效后给予PE挽救治疗.3次TM发作经治疗后症状改善,例1的第二次TM复发症状显著改善,第一次TM复发症状轻度改善;例3的TM发作治疗后症状轻度改善,例2的1次ON发作经治疗后视力无明显改善.PE的不良反应依次为:血压下降、肝素相关性血小板计数减少,均为短暂且可逆性,未发生导致治疗终止的严重不良反应.结论:PE可作为VLONMOSD患者的首选或补救治疗措施,安全性基本良好.

Background:The area postrema syndrome (APS) is a unique diagnostic criterion for neuromyelitis optica spectrum disorders (NMOSD). However, APS has rarely been reported in cases of chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids (CLIPPERS). Case presentation:A 36-year-old woman presented with APS and clinical features of diffuse central nervous system involvement during the early stage of the disease. Owing to the absence of serum aquaporin 4 antibodies, she was initially misdiagnosed as a case of seronegative NMOSD. However, the distinct neuroimaging characteristics [symmetrical small punctuate gadolinium enhancing lesions (pepper-like)], typical clinical/radiological relapse, and intense steroid-dependence in this case, prompted us to correct the diagnosis as probable CLIPPERS. To prevent relapse, long-term oral steroids and an immunosuppressive agent were administered. Conclusions:CLIPPERS may present as APS, and should be considered in the differential diagnosis of NMOSD.

OBJECTIVE:To investigate whether aquaporin-4-immunoglobulin G (AQP4-IgG) titers and measures of complement-mediated cell killing are clinically useful to predict the occurrence of relapse, relapse severity, and/or disability in neuromyelitis optica spectrum disorder (NMOSD).METHODS:We studied 336 serial serum specimens from 82 AQP4-lgG-seropositive patients. NMOSD activity at blood draw was defined as preattack (24 [7.1%], drawn within 30 days preceding an attack), attack (108 [32.1%], drawn on attack onset or within 30 days after), or remission (199 [59.2%], drawn >90 days after attack onset and >30 days preceding a relapse). For each specimen, we documented the attack type and severity and immunotherapy status. Complement-mediated cell killing was quantitated by flow cytometry using an M23-AQP4 cell-based assay.RESULTS:The estimated logarithmic means of AQP4-IgG titers in preattack, attack, and remission samples were 3.302, 3.657, and 3.458, respectively, p = 0.21. Analyses of 81 attack/remission pairs in 42 patients showed no significant titer differences (3.736 vs 3.472, p = 0.15). Analyses of 13 preattack/attack pairs in 9 patients showed no significant titer differences (3.994 vs 3.889, p = 0.67). Of 5 patients who converted to seronegative status, 2 continued to have attacks. Titers for major and minor attacks (n = 70) were not significantly different (3.905 vs 3.676, p = 0.47). Similarly, measures (titers) of complement-mediated cell killing were not significantly associated with disease course, attack severity, or disability at 5 years.CONCLUSIONS AND RELEVANCE:AQP4-IgG titer and complement-mediated cell killing lack significant prognostic or predictive utility in NMOSD. Although titers may drop in the setting of immunotherapy, seroconversion to negative status does not preclude ongoing clinical attacks.CLASSIFICATION OF EVIDENCE:This study provides Class II evidence that in patients with NMOSD, AQP4-IgG titers and measures of complement-mediated cell killing activity do not predict relapses, relapse severity, or disability.

To clarify the existence of monophasic neuromyelitis optica spectrum disorders (NMOSD) and to identify predictive factors of long-term relapse-free form. We retrospectively analyzed 289 Chinese patients with NMOSD. Selected subjects were divided into three groups based on the time interval between disease onset and the first relapse, if any. Clinical and imaging data were acquired from each patient’s medical record and evaluated as predictive factors for NMOSD. In total, none of the participating patients exhibited a monophasic form of NMOSD. Rather, 241 patients were selected for relapse tendency analysis; 143 (59.3%) patients relapsed within the first year, 66 (27.4%) during 1–5 years, and 32 (13.3%) beyond 5 years. Such onset symptoms as optic neuritis (ON) and non-longitudinally extensive transverse myelitis (LETM) were independent prognostic factors for a prolonged remission interval (P < 0.05). The relapse rate was bi-modal for ON patients in the first year (47.9%) and beyond 5 years (24.0%) after disease onset, respectively. However, most TM and area postrema syndrome (APS) patients experienced an attack within the first year (61.3% for TM and 76.9% for APS). A survival analysis showed that attacks with APS (P < 0.0001) and TM (P < 0.05) have a significantly higher risk of early relapse than with ON and that seropositive aquaporin-4 antibody may shorten the relapse interval for all onset symptoms (P < 0.0001). Our study indicated that the monophasic form of NMOSD may not exist when a sufficient follow-up period is considered. Onset phenotypes with ON, non-APS, or non-LETM attacks had a lower risk of early relapse.

Recently, neuromyelitis optica spectrum disorders (NMOSD) appear to be a multi-organ disorder, however, the involvement of myocardium in NMOSD is extremely rare. In the present article, we present a young girl who manifested bilateral optic neuritis, area postrema syndrome, brainstem syndrome and transverse myelitis, as well as tachycardia, abnormal electrocardiograph, moderate elevation of myocardial biomarker and regional wall movement abnormalities, which confirmed the diagnosis of Takotsubo cardiomyopathy associated with NMOSD. The neurological deficits along with myocardial injury were recovered soon after the administration of intravenous methylprednisolone and intravenous immunogloblin. This is a rare case that should be paid attention and by which can not only broaden the symptom spectrum of NMOSD, but can also provide novel visions for further investigating the mechanism of organs damage.

This study aimed to investigate the underlying pathological muscle damage in neuromyelitis optica spectrum disorder (NMOSD) patients without muscular symptoms. We prospectively enrolled 15 patients with aquaporin 4 (AQP4) antibody seropositive NMOSD and 16 patients with non-NMOSD diseases as a control group. Biceps biopsy samples from 18 patients were examined. Six NMOSD patients exhibited inflammatory lesions/edema in lower muscles on muscle MRI. On histopathological examination, NMOSD samples showed significantly decreased IgG-targeting AQP4 expression on sarcolemma compared with non-NMOSD samples in terms of the area of positive staining and integrated optical density. Muscle biopsy can support the differential diagnosis of NMOSD.

目的:分析并总结遗传性痉挛性截瘫 7型(HSP7)患者的临床表现及基因突变特点.方法:收集 2例HSP7患者的临床资料,完善头核磁平扫检查,行共济失调量表及认知功能量表评分,提取患者及其直系亲属外周血 DNA,全外显子测序进行基因检测,结合一代测序验证突变位点.结果:2例 HSP7患者临床表现均有走路不稳,小脑性共济失调、下肢肌张力增高、肌力减退及轻度认知功能减退,头核磁平扫发现轻度小脑萎缩,基因检测发现 2例患者痉挛性截瘫 7基因(SPG7)存在复合杂合突变,病例 1:c.1047dupC(p.Gly349fs),c.1904C＞T(p.Ser635Leu);病例 2:c.2771delG(p.Met757fs),c.1529C＞T(p.Ala510Val),均为已报道致病突变,家系验证证实突变分别来自于患者的父母且存在基因型-表型共分离.结论:HSP7患者临床上可以表现有小脑性共济失调及认知功能减退,本研究的 2例 HSP7患者经基因检测证实为 SPG7基因复合杂合突变所致.

OBJECTIVE:To explore the clinical, electrophysiological and imaging features of a patient with Krabbe disease caused by GALC mutation.METHODS:A comprehensive analysis including clinical investigation and genetic testing was carried out.RESULTS:The patient presented with peripheral neuropathy with electrophysiological anomaly suggestive of asymmetric demyelinating neuropathy. Brain imaging revealed leukoencephalopathy. Genetic analysis has identified compound heterozygous mutations in exons 5 and 11 of the GALC gene, namely c.461C>A and c.1244G>A.CONCLUSION:Krabbe disease is a group of disorders featuring substantial phenotypic heterogeneity. Genetic and enzyme testing has become indispensable for accurate diagnosis for this disease.

Neuromyelitis optica (NMO) spectrum disorder (NMOSD) is a devastating autoimmune inflammatory disorder of the central nervous system, which can result in blindness or paralysis. Currently, there is a dire need for new treatment options in the clinic. Several case series have shown that mycophenolate mofetil (MMF) may be an effective treatment for NMOSD patients. The dosing of MMF in the treatment of NMOSD has been poorly studied. Therefore, we evaluated the efficacy, tolerability, influential factors and optimal dosage of MMF in Chinese patients with NMOSD.