The clinical, neuroelectrophysiological, neuropathological characteristics and outcome of a case of acute sensory axonopathy are reported. The patient was a 32-year-old female. She presented with acute onset sensory abnormalities, sensory ataxia, pseudoathetosis and areflex. Lab testing showed cerebrospinal fluid albumin cytologic dissociation. Electromyography studies and sural nerve pathology were consistent with acute sensory axonopathy. Treatment including intravenous immunoglobulin and steroid therapy was provided. Her symptoms recovered slowly without relapse, so did tibial H-reflex amplitudes.

1 病例报告患者男性,62岁,因“颈部及双上肢放射痛3个月,加重伴双上肢力弱1个月”于2019年10月7日收住作者医院.患者2019年6月开始先后出现左上肢及右上肢胀痛,时为刀割样,伴有肩部往上肢放射,需服用加巴喷丁等止痛药物.2019年8月逐渐出现左上肢及右上肢力弱,抬举费力,抓握尚可,此次因肢体无力症状进展影响日常生活就诊.患者否认剧烈头痛及呕吐症状.既往史:患者于2018年5月因咳嗽就诊,经查胸部CT及气管镜活检病理证实为肺鳞癌,伴肺门淋巴结转移.

目的 探讨SETX基因突变相关的共济失调伴眼动失用2型一家系患者的临床特征及基因突变特点.方法 总结中日友好医院神经科门诊收治的一来自非近亲结婚家系的共济失调家系患者的临床特征及辅助检查结果.应用全外显子测序技术对患者进行基因检测,结合一代测序对患者及家系成员进行突变位点验证.结果 先证者表现为进行性步态不稳、构音障碍、眼动失用、轻度认知功能减退,血清甲胎蛋白水平升高,肌电图检查提示多发性周围神经病,头颅磁共振平扫可见明显小脑萎缩.全外显子测序发现该患者存在复合杂合突变c.5591_5592delAA(p.Q1864Rfs*34)及c.6638C>T(p.P2213L),一代测序家系验证显示两个突变分别来自其父母.结论 共济失调伴眼动失用2型在中国人群罕见,通过特征性的临床表型结合全外显子测序技术有助于快速诊断该病.

患者男性,70岁,汉族,主因“双下肢无力10年,加重2年”,于2018年9月12日就诊于中日友好医院神经科.患者自2008年起无明显诱因出现双下肢无力,走路稍不稳,可自行蹲下站起,上下楼梯不受影响,未就诊.其双下肢无力症状进行性加重,3年前患者出现行走困难,走路不稳,蹲下后站起费力,就诊于当地医院,行肌电图等检查,诊断为“慢性炎性脱鞘性多发性神经病”,予激素冲击治疗及丙种球蛋白静脉点滴,患者肌无力症状较前明显缓解,蹲下后可自行站起.

Twinkle基因编码蛋白TWINKLE可进入线粒体内参与复制体的组成,维持线粒体DNA数目的稳定。Perrault综合征作为一种罕见的常染色体隐性遗传病,可由Twinkle突变导致,目前该疾病暂无全面的诊断方法和有效的治疗手段。现简要概述了Twinkle突变导致Perrault综合征的研究进展。

目的:初步探讨我国成人型神经元核内包涵体病患者的临床和病理特点.方法:收集患者临床资料,对2例成人型神经元核内包涵体病患者的皮肤组织病理和超微结构进行观察.结果:较重的1例患者以反复意识障碍,痴呆,伴发热、呕吐为主要表现,较轻的患者以头晕伴恶心、呕吐起病.例1的皮肤组织病理结果可见汗腺细胞核内嗜酸性包涵体;例2的皮肤组织电镜下可见成纤维细胞核内包涵体结构.结论:成人型神经元核内包涵体病患者临床表现存在异质性,皮肤活检结合头颅核磁弥散像(DWI)皮髓质交界高信号有助于该病的诊断.发作性消化道症状可能是我国患者的主要临床表现之一.

Objective To study the nerve conduction abnormality and its relationship with Michigan Neuropathy Screening Instrument in Diabetic ployneuropathy patients. Methods We retrospectively analyzed the nerve conduction study and Michigan Neuropathy Screening Instrument ( MNSI) in 36 in-house diabetic polynneuropathy patients between Jan 2015 to Dec 2016. Results In this retrospective study including 36 diabetic polyneuropathy patients,nerve conduction abnormalities are more common in lower limb than upper limb (100% vs 83. 3% ),sensory nerve abnormalities more com-mon than motor (100% vs 83. 3% ),and decreased SNAP amplitude was present in all patients (36/36,100% );slowed MCV was the most common motor nerve abnormality;Nerve conduction study score (NCSS) statistically correlated with MN-SI (P<0. 01). Conclusion Decreased SNAP amplitude and mildly slowed MCV in lower and upper limbs are common in diabetic polyneuropathy;the combined score of nerve conduction abnormalities is correlated significantly with MNSI and could be a disease follow-up biomarker.

Objective To investigate the clinical,imaging,intestinal pathological characteristics and prognosis of gluten ataxia (GA).Methods The clinical data,treatment and prognosis in a patient with GA that was confirmed by pathology and hospitalized in the Department of Neurology,China-Japan Friendship Hospital in July 2018,were analyzed retrospectively.The related literature was reviewed and the clinical feature was summarized.Results The patient is a 41-year old man.He suffered from progressive cerebellar ataxia,and the brain magnetic resonance imaging exhibited diffused cerebellar atrophy.Serum human leukocyte antigen (HLA) tests showed that the patient carried HLA-DQ2 genotype.IgA type anti-gliadin antibody was positive (39.39 RU/ml).Duodenoscopy biopsy revealed mild villus atrophy and lymphocytic infiltration,indicating celiac disease.The diagnosis of GA was established then and the patient was administered gluten-free diet combined with intravenous immunoglobulin,which markedly improved the cerebellar symptoms and signs of cerebellar speech,walk capability and daily living activities.He could do long distance driving independently two months later.Conclusions GA is one of immune-mediated reversible acquired cerebellar ataxia caused by gluten sensitivity.The genotype,serologic features,and clinical phenotype of GA in Chinese mainland population might be similar with those in European and American countries.

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.

leus (1 case ) and sensory ataxia (1 case ) . Abnormal T2 signal in the posterior cord was detected by spinal M RI in 1 case. Lung mass was demonstrated in 2 cases by chest CT study and tumor was confirmed in one case by biopsy. Cerebrospinal fluid (CSF) examination showed normal white blood cell counts and normal protein level in all the subjects. All cases were anti‐Hu antibody positive in both serum and CSF samples. On neural electrophysiological examination , all cases had decreased sensory nerve action potential (SNAP) amplitude , with decreased motor nerve conduction velocity in 2 cases. All the patients had abnormal sympathetic skin response. T he patient w ho had lung cancer received tumor therapy ; one patient with negative PET‐CT study had immunotherapy.Conclusions Neuropathy patients associated with anti‐Hu antibodies commonly present as subacute painful sensory neuropathy and autonomic symptoms , anti‐Hu antibody testing is helpful for the diagnosis. Lung tumor screen and early therapy could partly resolve the neuropathy symptoms.

Objective To investigate the risk factors of diabetic peripheral nephropathy (DPN) and diabetic nephropathy (DN) in type 2 diabetes mellitus patients and the relationship between DN and DPN. Method Retrospective analysis was performed on the clinical data of 365 patients with type 2 diabetes. These patients were divided into no diabetic peripheral neuropathy (NDPN) group and DPN group according to the results of electromyography. The differences in renal biochemical markers and the prevalence of DN were compared between the two groups. According to the urinary albumin excretion rate (UAER) and the estimated glomerular filtration rate (eGFR), refer to the Mogensen diabetic nephropathy stage, all patients were divided into four groups: albumin-free group (including simple diabetes, DN Ⅰ and Ⅱ patients), microalbuminuria group (UAER 30-300mg/24h), clinical albuminuria group (UAER＞300mg/24h) and terminal renal failure group [eGFR＜15 ml/(min?1.73m2)], the differences in the prevalence of DPN among the four groups were compared. Multiple regression analysis was used to analyze the risk factors of DN and DPN. Result The prevalence of DN in DPN group was significantly higher than that in NDPN group(P＜0.05). The prevalence of DPN increased gradually with the increase of UAER, there were significant differences among the four groups (P＜0.01). Common risk factors for DPN and DN included age, duration, systolic blood pressure and Low-density lipoprotein cholesterol levels. Conclusion There is a correlation between DPN and DN, and there are some common risk factors between them.

目的 通过PCR-测序技术确定Dysferlinopathy患者的致病突变并探讨其分子免疫病理特点.方法 收集临床拟诊肢带型肌营养不良及Miyoshi肌病患者,所有患者肌肉活检后进行组织学、酶组织化学、免疫组织化学(IHC)染色,对从外周血中提取的基因组DNA进行PCR-测序.结果 4例患者肌肉组织IHC染色证实肌纤维膜dysferlin蛋白缺失.基因检测发现1例患者含有DYSF(dysferlin基因)纯合突变、另3例患者含有复合杂合突变,其中c.2693delG、c.5511C＞A、c.5516A＞T、c.863A＞T、c.1617C＞A为首次报道的新发突变.3例患者IHC染色显示:肌纤维细胞膜区域存在不同程度的MHC-1免疫沉积,坏死肌纤维部位有C5b-9补体沉积.所有病例均有肌纤维内脂滴轻度增加.结论 发现5种DYSF基因新发突变;免疫病理特点的研究有助于本病与炎性肌肉病的鉴别;脂滴增加现象支持继发于膜修复损伤的脂肪转运障碍参与病理发病机制.

>临床资料患者男性,20岁,因"双下肢力弱4～5年"于2013年5月22日收住我院神经内科。患者4～5年前开始无明显诱因出现双下肢力弱,走路易崴脚、摔跤,脚尖抬起费力,并发现双足部变形,蹲下时足跟不能着地,上述症状缓慢进展,目前平地行走也易摔倒,无明显上肢及下肢近段力弱;伴有发作性言语不利,表现为言语不清、难以理解,持续数分钟缓解;曾有站立位出现发作性头晕,发作前无心慌、胸

<正>1病例报告患者男性,45岁,因"腰骶疼痛伴四肢麻木13d,口角歪斜3d"入院。患者13d前无明显诱因出现腰骶部轻度疼痛,平卧位出现,无放射痛;11d前出现腰部束带感伴四肢远端麻木,无明显肢体力弱、尿便障碍;8d前于外院肌注甲钴胺及外用膏药治疗后腰骶部疼痛缓解;6d前出现前胸部麻木感;3d前晨起感左面部发僵,无吞咽困难或视物成双,家属发现其口角歪斜。患者否认病前腹泻或

<正>患者男性,28岁,主因"进行性四肢力弱、萎缩20余年,于2012年12月13日就诊于我院神内科门诊。现病史:患者约4~5岁开始出现活动能力较同龄儿差。上小学前走路易摔跤,随后症状逐渐加重,表现为走路慢,脚尖着地;起床、翻身、蹲起困难;近端肌肉萎缩。12岁时曾在外

目的 探讨Kennedy病的临床、神经电生理及病理特征.方法 报道2例经基因确诊的Kennedy病患者,分析其临床症状、体征、肌电图和神经传导检查和神经病理等特点.结果 两例患者均中年发病,进展缓慢.神经系统表现为以肢体近端无力和延髓受累为主的下运动神经元瘫痪.血清性激素水平正常,但有男性乳腺发育等雄激素功能低下表现.血清肌酸激酶轻度升高.肌电图呈广泛神经源性损害,神经传导检查提示感觉神经动作电位波幅减低,H反射异常,神经活检提示大的有髓纤维减少.雄激素受体基因编码区CAG重复数大于40.结论 Kennedy病有相对独特的临床、电生理及病理特征,确诊有赖于雄激素受体基因编码区CAG重复数的检测.

Objective To determine and evaluate the method of localization of anal verge by mutislice spiral CT. To provide an imaging reference for operative guidance of low-rectal cancer. Methods Forty eight consecutive adult patients suspected of abnormalities other than rectal disease were evaluated with abdominal and pelvic CT scans since August, 2009. They were divided into two groups based on sex and age. There were 23 men and 25 women. The ages of young group were 28 to 50 years and the average age was 41 years. The ages of elderly group were 52 to 81 years and the average age was 64 years. A small cotton ball dipped with contrast media was put at the anal verge as a marker and CT scans were performed with 64-slice spiral CT scanner. The distances between the cotton balls and the lower margin of the pubis combination (La), the lower margin of the 5th sacral vertebra (Lb), the inferior aperture of minor pelvis(Lc) and the lower margin of the basement of external anal sphincter (Ld) were measured on the midsagittal images obtained by MPR. The averages, the standard deviations(s), the 95% and 80% confidence intervals of La, Lb, Lc and Ld were calculated. We took the intervals of ± 1.96 s or ± 1.28 s ＜ 5 mm as the standard of meeting the clinical requirement. The distances meeting the clinical requirement between different sex groups or age groups were compared with t test. Results The Ld was (9.8 ± 1.2) mm, ofwhich intervals of ± 1.96 s and ± 1.28 s were 4. 8 mm and 3.0 mm respectively, meeting the clinical need.This distance was also measured conveniently. There were no significant differences ( P ＞ 0.05 ) between two different sex groups [ male group, ( 10.0 ± 1.2) mm], female group, (9.6 ± 1.2) mm and between two age groups [ young group, (9.6 ± 1.2) mm, elderly group, ( 9.9 ± 1.3 ) mm ]. Conclusions The lower margin of the basement of external anal sphincter was a useful anatomic lanmark for localizing the anal verge,and could be definitely identified on the middle sagittal pelvic CT image. The distance between the structure and anal verge is constant enough and can be used in measuring distance from low rectal lesion to the anal verge.

病历摘要 患者男性,19岁,因反复肢体抽动19年,伴发作性双下肢无力6年于2007年11月收入院.患者自出生数月后无明显诱因反复出现右上肢突发性不自主屈曲抽动,左侧上下肢偶见类似表现,每次持续数秒,不伴意识丧失,精神紧张或情绪波动时症状加重。