Bickerstaff脑干脑炎和Miller Fisher综合征临床及预后的对比研究

目的探讨Bickerstaff脑干脑炎(BBE)和Miller Fisher综合征(MFS)的临床特征,研究两者的症状学特点及疾病分类学关系。方法对湘雅二医院2003-01-2013-12符合BBE(21例)和MFS(67例)诊断标准的患者的临床资料进行回顾性分析。结果 BBE和MFS患者均存在以上呼吸道感染为主的前驱感染症状〔10例(48%)、36例(54%)〕,并具有眼外肌麻痹和共济失调的共同症状〔21例(100%)、67例(100%)〕,头痛〔8例(42%)、20例(30%)〕、眼内肌麻痹〔8例(38%)、17例(25%)〕、延髓麻痹〔8例(50%)、32例(48%)〕、面瘫〔6例(35%)、20例(30%)〕、浅表感觉障碍〔4例(25%)、28例(42%)〕等症状在两者中均常见且发生率相近;两者均有脑脊液蛋白-细胞分离现象〔5例(25%)、23例(38%)〕和头部影像学检查〔10例(59%)、2例(4%)〕异常。两者主要的不同点在于BBE患者的中枢神经系统受累表现如意识障碍〔16例(76%)〕、腱反射亢进〔11例(52%)〕、Babinski征〔6例(32%)〕、头部MRI脑干部位异常信号〔10例(59%)〕、脑电图异常〔7例(78%)〕较MFS患者〔0例、0例、8例(12%)、2例(4%)、0例〕常见。两组患者预后均较好,随访期间(≥1年)均未见复发病例,MFS患者59例(88%)症状完全消失,BBE患者10例(48%)症状完全消失,3例(14%)明显改善,6例BBE死亡。结论BBE与MFS临床特点相似且存在交叉重叠,两者可能形成同一连续性自身免疫性疾病谱。     

Bickerstaff脑干脑炎和Miller Fisher综合征免疫调节治疗疗效的对比研究

目的探讨免疫调节治疗在Bickerstaff脑干脑炎(BBE)和Miller Fisher综合征(MFS)中的疗效。方法回顾性分析湘雅二医院和湘雅医院2003~2013年符合BBE(32例)和MFS(67例)诊断标准的患者临床资料,比较免疫调节治疗对两组患者症状的改善及预后的影响。结果与对照组对比,IVIg联合激素治疗可以加快BBE患者意识障碍的恢复(P<0.05);IVIg、激素单独治疗在BBE患者意识障碍、眼外肌麻痹及共济失调症状的开始改善时间上无明显差异(P>0.05)。各免疫调节治疗措施与对照组相比,对MFS患者眼外肌麻痹和共济失调症状的恢复均无明显加速作用(P>0.05)。两组平均随访时间均>1 y,未见复发病例,绝大多数的BBE(66%)和MFS(98%)患者症状完全缓解,9例BBE患者死亡。结论 IVIg联合激素治疗可加快BBE患者意识障碍的恢复,改善早期出现意识障碍患者的预后。免疫治疗措施对MFS患者疾病病程及预后无明显影响,可能与该病的具有较好的自然病程有关。     

可疑Bickerstaff脑干脑炎合并吉兰-巴雷综合征一例报告

1临床资料患者,女性,31岁,因呕吐、呃逆1月于2006-07-21住入中南大学湘雅医院。07-23患者出现行走不稳,伴头晕、视物旋转及复视。07-23晚患者病情加重,出现声音嘶哑,饮水呛咳。查体:神清,声音嘶哑。双瞳孔等大等圆,直径3 mm,对光反射灵敏,眼球活动尚可,可见水平性眼震;闭目无力,张口伸舌受限;双侧咽反射消失;左上肢肌力Ⅳ级,右上肢及双下肢肌力Ⅴ-级;双上肢腱反射存在,双下肢膝反射及踝反射未引出;病理反射(-);指鼻、跟膝胫试验欠准;脑膜刺激征(-);四肢膝肘以下痛温觉减退。红斑性狼疮(ANA、dsDNA)及ENA免疫学指标(nRNP/Sm、Sm、SSA…     

Bickerstaff's脑干脑炎4例并文献复习

目的分析Bickerstaff脑干脑炎(BBE)的临床特点,以提高临床医生对其认识,提高诊治水平。方法对瑞金北院神经内科收治的4例BBE患者的临床资料进行回顾性分析,并综合相关文献,总结其临床特点、发病机制、治疗方法及预后。结果 4例患者均为急性起病,发病前有上呼吸道感染者2例,疱疹病毒感染1例,鼻窦炎1例。临床主要表现为急性眼肌麻痹(眼内肌麻痹3例,眼外肌麻痹1例),共济失调4例,意识障碍1例,腱反射亢进4例,病理征阳性2例,1例患者同时累及脑神经(面神经、前庭神经及听神经)。4例患者脑脊液检查及头颅MRI检查结果基本正常。2例行血清抗GQ1b抗体检查者均为阴性。4例患者使用糖皮质激素或联合免疫球蛋白治疗预后较好。结论 BBE的确诊主要依据临床表现、血清抗体、影像学及神经电生理作为辅助诊断,激素或激素联合免疫球蛋白治疗有效。     

Miller-Fisher综合征和Bickerstaff脑干脑炎的临床特点及鉴别诊断

目的 探讨Miller-Fisher综合征(MFS)和Bickerstaff脑干脑炎(BBE)的临床特点及鉴别诊断.方法 回顾性分析12例MFS和15例BBE患者的临床资料.结果 MFS组表现为视物成双12例,瞳孔对光反射消失3例,周围性面瘫7例,饮水呛咳1例,四肢无力6例,感觉障碍4例,共济失调10例;BBE组表现为视物成双11例,中枢性面瘫4例,耳鸣4例,饮水呛咳6例,四肢无力10例,感觉障碍2例,共济失调10例,嗜睡或昏迷5例,病理征9例.脑脊液检查MFS组和BBE组各有10例表现为蛋白升高;MFS组脑脊液白细胞升高2例,BBE组6例.MFS组3例、BBE组1例肌电图出现神经源性损害.BBE组有6例CT或MRI检查异常,主要部位为脑干、丘脑等.两组患者治疗后预后良好.结论 MFS和BBE有相似特点,临床表现可以相互重叠,提示这两种疾病密切相关并形成一个连续的疾病谱;主要鉴别点是BBE患者可以有意识障碍、病理征和影像学异常.     

Miller-Fisher综合征临床分析

目的 探讨Miller-Fisher综合征的临床特点.方法 对11例Miller-Fisher综合征患者临床特征辅助检查及治疗方法进行分析.结果 Miller-Fisher综合征急性发病,以眼外肌麻痹、共济失调、腱反射减弱或消失为主要表现.脑脊液蛋白升高10例,肌电图检查示神经源性损害6例,MRI检查未发现异常.结论 Miller-Fisher综合征主要累及周围神经.根据临床特点,结合脑脊液检查及肌电图能确诊,头颅MRI有助于诊断.     

吉兰-巴雷综合征32例临床分析

目的总结吉兰-巴雷综合征的流行病学特点,为临床诊治提供参考。方法回顾性分析32例临床确诊的吉兰-巴雷综合征患者,对其流行病学特征、临床特点、辅助检查、治疗和预后进行总结。结果患者以青壮年为主。男性多于女性,全年均有发病。职业多为农民、退休工人或无业者、打工者。多有前驱感染史,平均1周后发病,表现四肢对称性无力,四肢远端感觉异常,腱反射下降,部分患者有脑神经受累。发病2周左右脑脊液检查呈现蛋白细胞分离现象。本院2003、2004年患者的治疗以单用GC治疗为主,近两年单用IVIG有增多的趋势。结论吉兰-巴雷综合征(GBS)是一种免疫介导性的周围神经疾病,临床表现多样,经过相关治疗大多预后良好。     

34例变异型吉兰-巴雷综合征的临床特点分析

目的 分析变异型吉兰-巴雷综合征(GBS)的临床特点。方法 回顾性分析2012年10月-2019年3月变异型GBS患者的临床表现、电生理及脑脊液特点。结果 共34例患者,包括Miller-Fisher综合征(MFS)及MFS变异亚型共12例,脑神经变异型(CNV)12例,急性感觉神经病(ASN)1例,急性泛自主神经病(APN)1例,咽-颈-臂(PCB)2例以及不能明确分型6例。34例变异型GBS患者中男20例、女14例(P=0.392); 发病年龄17～80岁,平均年龄(53.38±14.99)岁,中年(41～65岁)组所占比例最多(P=0.000); 20例有前驱事件,上呼吸道感染占65%; 首发症状以肢体麻木(38.2%)、吞咽困难(29.4%)、吐词不清(23.5%)多见; 97.1%的患者发病4周内达高峰; 需机械通气者5.9%; 疾病开始恢复的中位时间13 d,住院中位时长13.5 d; 64.7%的患者腱反射减弱或消失; 在完成腰椎穿刺检查的患者中脑脊液蛋白-细胞分离者58.6%; 发病到完善神经电生理检查的平均时间(10.70±7.32)d,85.2%神经电生理检查表现异常; 50%患者给予静脉注射免疫球蛋白(IVIg)治疗,14.7%患者给予激素治疗,8.8%患者给予免疫球蛋白联合激素治疗,除外1例患者主动要求出院,其余治疗均有效。结论 变异型GBS临床表现多样,常无典型急性四肢对称性迟缓性麻痹等症状,临床诊断需要综合判断,出现一些少见的临床表现并不能除外GBS的诊断,脑脊液和神经电生理检查可以帮助提高诊断,详尽的病史及神经系统查体尤为重要,免疫球蛋白和激素治疗有效。     

感觉共济失调型吉兰-巴雷综合征二例

1 临床资料 病例1:男,59岁,因"双下肢麻木1个月,双上肢麻木2周,伴有步态不稳、味觉减退、闭目困难、流泪、面部表情僵硬、言语含糊"于2007-12-25入院.     

大剂量免疫球蛋白治疗吉兰-巴雷综合征2l例临床观察

目的观察大剂量静滴免疫球蛋白(IVIg)治疗吉兰-巴雷综合征(GBS)的疗效。方法2l例确诊病人于首次发病后10天内接受IVIg治疗．剂量为0．4g·kg-1．D-1,连续5天为一疗程,结果神经功能缺损评分治疗前后差异具有高度显著性(P<0．01)。结论IVIg治疗GBS具有安全、高效、副作用少等优点,值得进一步推广。     

Bickerstaff brainstem encephalitis. A case report

A 33-year-old woman three weeks after a febrile illness presented with a syndrome of ophthalmoplegia, ataxia and areflexia (SOAA) that characterizes clinically both Bickerstaff and Miller Fisher syndromes. The normality of the electrophysiological tests performed, the CSF findings and the magnetic resonance images proved that the syndrome stemmed from brainstem pathology.

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Sommario Viene descritto il caso di una paziente che, tre settimane dopo aver sofferto una sindrome influenzale, presentò un quadro clinico caratterizzato da oftalmoplegia, atassia ed are flessia osteotendinea il quale, come è noto, caratterizza sia la sindrome di Bickerstaff che quella di Miller Fisher. La normalità degli esami neurofisiologici (SEPs, VEPs, BAEPs, studio della VCM, VCS), il reperto liquorale e, soprattutto, l'esame di risonanza magnetica encefalica hanno permesso di ricondurre il quadro sindromico osservato and una compromissione del mesencefalo.

     

Miller-Fisher综合征临床特点及亚型诊断(附27例报告)

目的分析Miller-Fisher综合征(MFS)的临床特点,并对其进行亚型诊断,以加深对其认识,提高诊治水平。方法回顾性分析27例诊断为MFS患者的发病诱因、临床表现、实验室检查、治疗及预后等临床资料,并依据2014年GBS分类专家组制定的Guillain-Barré综合征(GBS)和MFS的新分类和诊断标准进行亚型诊断。所有患者接受脑脊液、肌电图及血清抗GQ-1b抗体检测。结果27例患者平均患病年龄为(41.0±22.6)岁,14例患者有前驱感染史,主要临床表现为复视、步态不稳,主要体征为眼外肌麻痹、共济失调、腱反射减弱或消失等。18例患者出现蛋白细胞分离现象;17例患者血清抗GQ-1b抗体阳性;26例患者出现不同程度的神经根及周围神经受损表现。亚型诊断:典型MFS患者19例,MFS与GBS重叠型(MFS/GBS)5例,急性眼睑下垂(AP)1例,急性瞳孔散大(AM)1例,急性共济失调性神经病(AAN)1例。除1例患者仅接受营养神经等治疗外,余26例患者分别接受了免疫球蛋白和(或)激素冲击治疗,所有患者出院时症状好转。结论 MFS的诊断需要结合患者临床表现、脑脊液检查、神经电生理检查和血清抗GQ-1b抗体等,患者予以免疫球蛋白和(或)激素冲击治疗预后良好。     

Optic neuritis and palatal dysarthria as presenting features of post-infectious GQ1b antibody syndrome

A 31-year-old man had optic neuritis 2 weeks after a diarrheal illness, followed by several deficits including palatal dysarthria, diplopia, ataxia, sensory dysfunction, and mild dysautonomia. Brain MRI and CSF were normal. Nerve conduction studies were initially normal and subsequently showed mild reduction in sensory amplitudes. Anti-GQ1b IgG titer was positive. Deficits resolved after treatment with IVIg. This clinical constellation represents an overlap between Miller Fisher syndrome (MFS) and the pharyngeal–cervical–brachial (PCB) variant of Guillain-Barre syndrome (GBS), along with the infrequently reported central feature of optic neuritis. Campylobacter jejuni enteritis may have triggered the syndrome by molecular mimicry. GQ1b antibodies are associated with MFS, GBS, Bickerstaff brainstem encephalitis and PCB; they form an overlapping spectrum of features, hence the anti-GQ1b syndrome.     

Nationwide survey of childhood Guillain-Barré syndrome,Fisher syndrome,and Bickerstaff brainstem encephalitis in Japan

ObjectiveGuillain-Barré syndrome (GBS), Fisher syndrome (FS), and Bickerstaff brainstem encephalitis (BBE) are immune-mediated neuropathies presenting with symptoms such as weakness, ophthalmoplegia, ataxia, and consciousness disturbances. Although the epidemiology of GBS and BBE in patients of all ages has been reported, childhood data have not been well-investigated. We aimed to determine the clinical features, therapeutics, and prognoses of childhood GBS, FS, and BBE in Japan.MethodsWe sent questionnaires to 1068 pediatric neurologists in Japan from 2014 to 2016 to determine the number of children less than 15 years old with GBS, FS, or BBE and their age and sex. We subsequently performed a secondary survey to investigate the clinical features, laboratory data, treatment, and prognosis.ResultsFive-hundred thirty-eight pediatric neurology specialists (50.4%) responded to the first survey. The total number of children with GBS, FS, and BBE in Japan from 2014 to 2016 were 87, 10, and 6, respectively. GBS was classified as acute inflammatory demyelinating neuropathy (35.6%), acute motor axonal neuropathy (20.7%), or acute motor-sensory axonal neuropathy (10.3%), with a male-to-female ratio of 1.29:1.0 and a wide distribution of onset ages. The disease severities of GBS, FS, and BBE were variable, but all children could walk within one year.ConclusionThe prognoses of childhood GBS, FS, and BBE were generally favorable, as long as the patient was promptly treated with either intravenous immunoglobulin or plasma exchange.     

脑干脑炎的免疫性治疗及预后危险因素的分析

目的探讨脑干脑炎(BE)患者各免疫性治疗方案的疗效、预后及早期死亡的相关危险因素。方法回顾性分析湘雅二医院及湘雅医院67例脑干脑炎患者的临床病历及电话或门急诊随访资料,采用Kaplan-Meier生存曲线分析评估各免疫性治疗措施的疗效,同时使用Logistic回归分析了解死亡患者的危险因素。结果在随访期间未见复发病例(平均时间≥1年),其中53例(79.1%)症状完全缓解,3例遗留少许症状(4.4%),存在11例(16.4%)死亡患者。IVIg联合激素治疗与对照组相比,在脑干脑炎患者意识障碍开始改善时间上差异有统计学意义(P0.05)。影响脑干脑炎患者早期死亡的危险因素有中枢性高热(P0.05)、机械辅助通气(P0.05)。结论 IVIg联合激素治疗可明显促进脑干脑炎患者意识障碍症状的恢复。中枢性高热、需机械辅助通气是脑干脑炎患者早期死亡的独立的危险因素。     

Involvement of the central nervous system in Miller Fisher syndrome: a case report

Miller Fisher syndrome (MFS) is characterised by ophthalmoplegia, ataxia and areflexia. Reports on cerebellar ataxia and supranuclear oculomotor derangement in MFS suggested an additional involvement of the central nervous system (CNS), resembling Bickerstaff's brainstem encephalitis (BBE). In the present report, a patient with a monophasic acute illness, early recovery and specific clinical-laboratory findings suggested both intrinsic brainstem and peripheral nerve disease (MFS and BBE). In pons and medulla oblangata, blurred to discrete T2-lesions were revealed by cranial MRI, while involvement of peripheral nerves was detected with EMG. The CSF showed no increase in protein or cell content, such as occurs in brainstem encephalitis.     

Unusual manifestations in two cases of necrotizing myopathy associated with SRP-antibodies

Anti-SRP (signal recognition particle) positive necrotizing myopathy is commonly not associated with neoplasms. We demonstrate two histologically confirmed cases with unusual manifestations of anti-SRP positive necrotizing myopathy. A 65-year-old man presented with rapidly progressing weakness and mild difficulties in swallowing and speaking. Screening for underlying disorders revealed a moderately differentiated renal adenocarcinoma. The muscular symptoms partially improved after tumor nephrectomy and prednisone treatment. However, the patient developed pulmonary metastases and died of the sequelae of pneumonia 11 months after the diagnosis of renal cancer. The second patient developed rapidly complete external ophthalmoplegia, severe bulbar dysarthrophonia and dysphagia, bilateral facial palsy, loss of patellar and ankle jerk reflexes, and severe symmetrical tetraparesis of both proximal and distal muscles. CSF showed mildly increased protein levels, neurography axonal impairment of motor nerves. Screening revealed no evidence for infections, ganglioside antibodies, and carcinoma. MRI was normal. The disease course suggested an overlap syndrome of Miller-Fisher-syndrome, axonal Guillain-Barré-syndrome and Bickerstaff brainstem encephalitis. In conclusion SRP antibodies might be found in necrotizing myopathies associated with autoimmune mediated overlap syndromes and neoplasms. The pathomechanism is not clear. Any otherwise unexplained evidence of necrotizing myopathy should prompt the screening for SRP antibodies.     

伴发颅内肿瘤的Maffucci综合征二例报告及文献复习

目的 报告2例伴有颅内病变的Maffucci综合征病例并文献回顾.方法 通过全身体检进行诊断,进行手术治疗切除颅内病变.结果 结合多发海绵状血管瘤和软骨瘤等全身表现,符合Maffucci综合征临床诊断.结论 我们首次报告了中国人群中伴有颅内病变的Maffucci综合征病例,对Maffucci综合征相关基因及临床表现仍待进一步研究.     

以反复脑梗死为首发症状的POEMS综合征1例报告并文献复习

目的探讨POEMS综合征伴发脑梗死的临床特点。方法报道1例合并反复脑梗死的POEMS综合征病例,结合国内外文献对POEMS综合征合并脑梗死的临床表现、发病机制及治疗予以分析总结。结果 POEMS综合征伴发的脑梗死好发于中年人群,常在周围神经病变起病20 m后发生。以偏瘫为最常见的首发表现,梗死灶以大脑中动脉支配区为主,50%的患者存在颅内血管异常。骨髓浆细胞增殖与血小板增多可能参与脑梗死的发生,积极治疗原发病可降低脑梗死的复发率。结论 POEMS综合征是脑梗死的少见病因,原发病的治疗是预防脑梗死复发的重要手段。