Bickerstaff脑干脑炎

Bickerstaff脑干脑炎(BBE)病因未明,多有前驱性感染,常见意识障碍、眼外肌麻痹、对称性迟缓性四肢瘫、共 济失调、双侧面瘫、Babinski征、瞳孔异常和球麻痹等。所有病人均可见单相缓解病程,预后一般较好。血清抗 GQ1bIgG抗体阳性。30％病人可见头部MRI异常。电生理研究证实外周运动神经轴突变性。BBE可与Fisher综合 征重叠。无有效治疗,可用免疫抑制治疗,如激素、静注免疫球蛋白(IVIgG)等;或血浆交换、免疫吸附治疗。IVIgG 不能缩短病程,但可明显改善意识障碍水平。     

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。     

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.     

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。     

Bickerstaff脑干脑炎

Bickerstaff脑干脑炎(BBE)是一种罕见的炎性的脱髓鞘疾病,临床表现通常为意识障碍、眼外肌麻痹、对称性迟缓性四肢瘫、共济失调、双侧面瘫、Babinski征、瞳孔异常和球麻痹等,但是Bickerstaff脑干脑炎一般预后比较好.     

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。     

老年Miller-Fisher综合征患者的临床和神经电生理特点分析

目的研究老年Miller-Fisher综合征(MFS)患者的临床和电生理特征,并分析其预后。方法对9例老年MFS患者的临床表现、辅助检查、治疗和预后进行回顾性总结分析。结果本组男女比例4:5,患病年龄(68.3±4.1)岁,病程(19.2±9.9)d,发病主要在春冬季节,有呼吸道感染前驱史者3例,首发症状主要为头晕、头痛、眼睑下垂、复视、行走不稳和肢体麻木无力,起病至达峰平均(2.7±2.8)d;患者均有眼肌麻痹、共济失调和腱反射减弱或消失,眼胀痛5例,眼内肌受累2例,面神经受累4例,舌咽、迷走神经受累3例,四肢肌力减退3例,远端浅感觉减退或消失6例,自主神经受累3例;血清抗GQ1b抗体阳性5例,脑脊液示蛋白细胞分离6例,四肢肌电图异常7例,主要表现为感觉神经传导受累5例;患者应用激素和(或)免疫球蛋白治疗,头痛、眼胀痛、肢体麻木症状最早改善,眼外肌麻痹、共济失调分别在(2.5±1.5)d、(6.3±3.8)d时开始改善,腱反射异常在2~3周出院时无明显恢复;患者住院(15.0±4.6)d,出院时均好转。结论老年MFS临床表现多样,肌电图主要表现为感觉神经传导受累,血清抗GQ1b抗体有助于诊断,激素和(或)免疫球蛋白治疗后好转。     

儿童Bickerstaff脑干脑炎重叠Guillain-Barré综合征1例

正Bickerstaff脑干脑炎(BBE)是一种罕见的以眼外肌麻痹、共济失调、意识障碍为特征的自身免疫性脑炎,1957年由Bickerstaff首次报道并命名为"脑干脑炎"[1]。因其可能和Guillain-Barré综合征(GBS)、Miller-Fisher综合征(MFS)的病理生理过程相互关联,临床表现类似,临床上称之为GBS谱系疾病[2-3]。目前国际上针对BBE重叠GBS的大宗流行病学数据较少,     

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。     

GQ1b抗体阴性Miller-Fisher综合征误诊为脑干小脑炎一例

正Miller-Fisher综合征(Miller-fisher syndrome,MFS)是临床上较为罕见的一种自身免疫相关性疾病,被认为是吉兰-巴雷综合征(Guillain-Barrésyndrome,GBS)的一种变异型,其典型临床表现是由眼外肌麻痹、共济失调和腱反射减弱或消失构成的经典三联征。但MFS临床表现可复杂多变,常出现许多不典型症状,少数患者可与Bickerstaff脑干脑炎(Bickerstaff brainstem encephalitis,BBE)和GBS发生部分重叠,早期诊断存在一定难度。临床上MFS以头晕头     

Remission of a paraneoplastic cerebellar syndrome

A case history is reported of spontaneous improvement of a sub-acute paraneoplastic cerebellar syndrome, that is before treatment of the primary (lung) tumour.     

Brown-Vialetto-Van Laere syndrome and Fazio-Londe syndrome: A novel mutation and in silico analyses

Brown-Vialetto-Van Laere syndrome, a rare neurological disorder is due to SLC52A3 mutations. Here, the SLC52A3 protein and its mutations are in silico structurally and functionally analyzed among all the reported patients and a novel mutation is also reported.After clinical evaluations, SLC52A3 gene was sequenced and segregation analysis of the mutations was also checked. A comprehensive search was performed on the reported mutations of SLC52A3 gene. In silico structural and functional analyses of the mutations and interactome analyses of the protein were done using available software tools.Mutations of 37 affected individuals were identified. Thirty three mutations were determined. c.502A > C was a novel variant that it was segregated within the family. One mutation (c.639C > G) was responsible for 12% of the mutations. Segregation analysis, secondary structure, functional prediction achieved for the novel mutation showed pathogenicity of this variant.BVVL is a very rare disorder; SLC52A3 mutations are distributed among different populations and there might be one frequent mutation in this gene. BVVL should be more considered in Iran. In addition to segregation analysis, computational analyses could accelerate understanding the extent of pathogenicity of the novel variants.     

Sleep-related respiratory and haemodynamic changes in Shy-Drager syndrome: a case report

Summary The sleep-related respiratory and blood pressure changes in a patient with Shy-Drager syndrome associated with the sleep apnoea syndrome are reported. Polygraphic recordings showed repeated apnoeic episodes during both sleep and wakefulness. Systemic arterial pressure values during sleep tended to be lower than in two other patients with Shy-Drager syndrome, and, unlike observations in the sleep apnoea syndrome, nocturnal swings of arterial pressure related to obstructive apnoea were markedly reduced. As a result, the total sleep time was reduced; a sleep with several features similar to REM stage was identified; during this stage the arterial pressure reached the lowest levels recorded. A review of the literature revealed that nocturnal respiratory disturbances were detectable in a high percentage of patients with Shy-Drager syndrome. We suggest that such an association is not a chance one.     

Arima syndrome caused by CEP290 specific variant and accompanied with pathological cilium; clinical comparison with Joubert syndrome and its related diseases

Objective

Arima syndrome (AS) is a rare disease and its clinical features mimic those of Joubert syndrome or Joubert syndrome-related diseases (JSRD). Recently, we clarified the AS diagnostic criteria and its severe phenotype. However, genetic evidence of AS remains unknown. We explored causative genes of AS and compared the clinical and genetic features of AS with the other JSRD.

头颅下垂综合征和轴性肌病

头颅下垂综合征指患者站立时颈脊部伸肌群无力抬头,因而头颅下垂,背部弯曲。平卧时可缓解。该综合征由原发性和继发性的病因造成。原发性的轴性肌病,病因不明,十分罕见。这种肌病发生于40￣60岁,主要累及颈脊旁肌群,出现头颅下垂。脊旁肌肌电图和组织活检证实为一种慢性肌病。本病是一种应引人注意的临床肌病症状群之一。     

Clinicogenetic Study of Turkish Patients With Syndromic Craniosynostosis and Literature Review

BackgroundFibroblast growth factor receptor 2 mutations have been associated with the craniosynostotic conditions of Apert, Crouzon, Pfeiffer, Saethre-Chotzen, Jackson-Weiss, Beare-Stevenson cutis gyrata, and Antley-Bixler syndromes in various ethnic groups.MethodsThirty-three unrelated Turkish patients (12 with Apert syndrome, 14 with Crouzon syndrome, six with Pfeiffer syndrome, and one with Saethre-Chotzen syndrome) and 67 nonsyndromic craniosynostosis patients were screened for mutations in exons IIIa and IIIc of the FGFR2 gene by denaturing high-performance liquid chromatography and confirmed by direct sequencing.ResultsWe detected several pathogenic mutations in 11/33 (33%) patients with Apert syndrome (four with p.Pro253Arg; seven with p.Ser252Trp) and 8/33 (24%) patients with Crouzon syndrome (three with p.Trp290Arg, one with p.Cys342Tyr, p.Cys278Phe, p.Gln289Pro, and a novel p.Tyr340Asn mutation) and five (15%) with Pfeiffer syndrome (p.Cys342Arg, p.Pro253Arg, p.Trp290Arg, and p.Ser351Cys). No FGFR2 gene mutation was detected in any of the patients with Saethre-Chotzen syndrome and nonsyndromic craniosynostosis.ConclusionsOur results indicate that the majority of Turkish patients with syndromic craniosynostosis have detectable genetic changes with an overall frequency of 72.7%. Because this is the first molecular genetic report from a Turkish cohort, the identified spectrum profile of FGFR2 mutations of the syndromic craniosynostotic patients would be very helpful for understanding the genotype–phenotype relationship and has a great value for diagnosis, prognosis, and genetic counseling.     

Consensus: Craniofacial synostoses

A critical analysis of functional and morphological aspects of Apert and Crouzen syndromes is presented, with reference to the papers presented in this session of the Consensus Conference on Craniosynostoses. Targets and limits of surgical correction are also discussed.Presented at the Consensus Conference on Craniosynostoses, Rome, 4–6 May 1995     

Neurocutaneous Melanosis in Association with Dandy-Walker Complex with Extensive Intracerebral and Spinal Cord Involvement

Neurocutaneous melanosis (NCM) is a rare congenital syndrome consisting of benign or malignant melanotic tumors of the central nervous system with large or numerous cutaneous melanocytic nevi. The Dandy-Walker complex (DWC) is characterized by an enlarged posterior fossa with high insertion of the tentorium, hypoplasia or aplasia of the cerebellar vermis, and cystic dilatation of the fourth ventricle. These each two conditions are rare, but NCM associated with DWC is even more rare. Most patients of NCM with DWC present neurological symptoms early in life such as intracranial hemorrhage, hydrocephalus, and malignant transformation of the melanocytes. We report a 14-year-old male patient who was finally diagnosed as NCM in association with DWC with extensive intracerebral and spinal cord involvement.     

Labio-glosso-pharyngo-laryngeal paralysis caused by two brain lesions: Cortical and subcortical

We report a case of labio-glosso-pharyngo-laryngeal paralysis with some peculia features. CT and MRI yielded the diagnosis of acute pseudobulbar syndrome by demonstrating the existence of two lensions of the corticobulbar tract: one subcortical (recent) and the other opercular cortical (old) on the opposite side.

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Sommario Viene descritto un caso di paralisi labio-glosso-faringo-laringea con evidenza di talune peculiarità ////////// matologiche. Le indagini TC e RMN consentirono la diagnosi di sindrome pseudobulbare acuta ////////// strando l'associazione di una duplice lesione della via cortico-bulbare, a livello sottocorticale (recente//// un lato, ed a livello corticale opercolare (pregressa) dal lato opposto.