头晕恶心2个月 加重伴呕吐 行走不稳20天

<正>患者女性,62岁。主因头晕、恶心2个月,加重伴呕吐、行走不稳20 d,于2014年9月11日入院。患者2个月前(2014年7月)无明显诱因出现头晕,症状呈渐进性加重,伴轻度恶心;1个月前(2014年8月)症状明显加重并伴呕吐、行走不稳,表现为步基增宽、向右倾倒且逐渐加重至站立不稳。外院头部MRI显示,大脑半球、侧脑室后角旁斑片状长     

家族性遗传性小脑共济失调一家系15例报告

家族性遗传性小脑共济失调一家系１５例报告杨月美张诚钟炎皋先证者Ｖ１，女１０岁，于１９９２年８月１日入院。于１９９１年４月始出现步态不稳，走路易跌，渐出现语言含混不清，进食饮水易呛咳，双手笨拙及意向性震颤，生活尚能自理，智力无下降。查体：行走不稳，步态...     

短暂性复视 反应迟钝 行走不稳

患者女性,46岁。主因短暂性复视,反应迟钝,站立、行走不稳2月余,于2014年6月3日入院。患者于入院前（2014年3月10日）出现发热（约38℃）,伴畏寒、无寒战,逐渐出现视物成双,站立不稳,行走需他人搀扶但无踩棉花感;同期出现幻听、反应迟钝、少言寡语、烦躁,不伴意识障碍。发病第10天外院MRI检查显示,双侧丘脑内侧、第三脑室侧壁和中脑导水管周围灰质FLAIR成像呈高信号（图1）。     

康复综合疗法治疗小脑共济失调一例

正患者女性,29岁。主因言语不清、双侧肢体活动失衡3月余,于2014年10月10日入天津市环湖医院就诊。患者入院前4个月顺产一女婴,产褥期第10天出现发热,体温37.3~38.6℃,伴乏力,经当地医院退热处理后体温降至37.3~37.6℃,乏力症状稍有缓解;产褥期第14天体温突然升至41℃,伴寒战和意识不清,遂入外院急救中心重症监护病房(ICU)抢救。考虑为中暑,并可疑颅内感染、缺氧缺血性脑病(HIE)、代谢性脑病;脓毒血症;肺炎;双     

行走不稳 四肢麻木疼痛

病历摘要患者男性,52岁。主因行走不稳约15 d,2012年8月30日入院。患者入院前约15 d无明显诱因出现行走不稳、易跌倒,但尚可感觉地面平实,曾出现穿鞋上床,伴双侧掌心刺痛及小腿中下段麻木感,无头痛、头晕、复视、饮水呛咳、吞咽困难等症状。病情呈进行性加重,逐渐进展为不能独立行走、站立,吃饭时不能准确地将勺子送入口中,言语含糊,反应稍迟钝,短时记忆减退。自发病以来精神、食欲欠佳,大小便如常,近2年来体质量下降约10 kg。     

行走不稳 四肢无力3个月

<正>病例摘要患者男性,38岁,农民,因行走不稳、四肢无力3月余,于2017年1月25日入院。患者3月余前(2016年10月3日)无明显诱因出现头晕、行走不稳、四肢无力,伴言语不清,尚可行走,无头疼、恶心、呕吐、饮水呛咳、复视等,当地医院行胸部CT检查(2016年10月22日)显示,右侧肺门处结节影(性质待定),右肺中叶、双肺下叶少许炎症性改变;腰椎穿刺     

双下肢无力行走不稳

病历摘要患者男性,16岁。主因双侧下肢无力、行走不稳2月余,于2012年2月24日入院。患者自2011年12月以来无明显诱因出现右踝酸痛,1周后疼痛症状消失,出现走路不稳,家人发现其行走姿势异常,但无跌倒现象;之后逐渐出现双侧下肢无力,平路行走或下楼梯尚可,上楼梯困难,休息后无     

右侧肢体活动不利

<正>病历摘要患者男性,51岁。因阵发性右侧肢体活动不利10d、持续不缓解1d,于2013年10月5日入院。患者入院前10d无明显诱因出现右侧肢体活动不利,右上肢不能抬起、持物,右下肢站立、行走不能,无头痛、头晕,无恶心、呕吐,无视物     

脊髓小脑性共济失调1家系5代6例报告

1 病例报告 先证者(Ⅲ2),男,51岁,工人.因"步态不稳10年",于2012-07-25以"脑梗死后遗症"收住作者医院.患者10年前无明显原因出现步态不稳,4年前出现左下肢无力,易跌倒.2006年开始就医,曾在外院多次以"脑梗死"治疗无效,且逐渐加重.患者无意识及大小便障碍.既往有高血压病史8年,未规律治疗.2008年因跌倒致左胫骨下段骨折,行切开复位内固定治疗,已愈.入院检查:体温36.2℃,心率74次/min,呼吸18次/min,血压150/94mmHg.意识清楚,语言欠清晰,心肺检查未见异常.     

脊髓小脑共济失调1型研究进展

脊髓小脑共济失调1型(SCA1)是一种常染色体显性遗传性神经变性疾病,其发病机制至今尚未阐明,通过动物模型研究发现蛋白磷酸化修饰、分子伴侣、泛素-蛋白酶体系统及特异性蛋白激酶信号转导通路与其发病有关。本文拟对SCA1临床和病理学特征、发病机制、动物模型及治疗等方面进行概述。     

发热癫(癎)发作复视

病历摘要患者女性,16岁.主因发热、发作性意识障碍5月余、复视2月余,于201 3年3月4日入院.患者6个月前(2012年9月中旬)受凉发热,体温37.5℃,伴头痛、呕吐,呈双侧颞区持续性钝痛及非喷射性呕吐,呕吐物为胃内容物.当地医院以上呼吸道感染进行治疗(具体方案不详),但症状无明显缓解,期间曾经出现一次发作性意识丧失、四肢抽搐,持续1 ～2 min.2012年9月24日当地医院考虑为脑炎,予以更昔洛韦、头孢菌素类抗生素静脉滴注(具体剂量不详),治疗第3天时再次出现意识丧失、四肢抽搐,持续约1 min.头部MRI检查显示胼胝体异常信号(图1).     

发热 癫癎 发作 复视

病历摘要 患者女性,16岁。主凶发热、发作性意识障碍5月余、复视2月余,于20l3年3月4日入院。患者6个月前（2012年9月中旬）“受凉”发热．体温37．5℃,伴头痛、呕吐,呈双侧颞区持续性钝痛及非喷射性呕吐,呕吐物为胃内容物。当地医院以“上呼吸道感染”进行治疗（具体厅案不洋）,但症状尤明显缓解,期问曾经出现一次发作性意识丧失、四肢抽搐．持续1～2nlin,2012年9月24日当地医院考虑为“脑炎”,     

肌阵挛发作癫痫共济失调

患者男性,16岁。发作性意识丧失伴肢体抽搐4年、双上肢抖动2年、加重2个月,于2013年9月4日人院。患者于4年前玩游戏时出现双眼反复眨眼,随即意识丧失、呼之不应,伴四肢抽搐、双眼上翻、面部发紫,无大小便失禁和舌咬伤,每次发作持续约2min后自行缓解。当地医院诊断为“癫痫”,     

发热意识不清四肢抽搐无力

病历摘要 患者女性,21岁.主因间断发热7月余,伴言语障碍、意识障碍、肢体不自主抽动及大小便失禁6月余,于2007年11月9日人院.患者于8个月前(2007年3月20日)因"受凉"出现发热,体温高达39～40℃,自服"感冒药"和阿莫西林后体温下降;但随之双手出现白色小水泡,米粒大小、呈透明状,伴疼痛、瘙痒,当地医院诊断为"过敏性皮炎".予"外用药"涂于息处皮肤治愈.之后出现口腔溃疡,发热,体温38℃,自服"感冒冲剂"后体温下降.     

A 52-year-old woman with dyskinesia, epilepsy and gait disturbance]

We report a 52-year-old Japanese woman who developed dyskinesia, epilepsy, and gait disturbance. She was well until 35 years of age, when she noted the onset of gait disturbance. She also noted abnormal involuntary movements in her limbs. She also noted dysarthria at age 38. A neurologist examined her at age 41. The neurologist found cerebellar ataxia and dyskinesia. The atrophy of the brain stem and the cerebellum was on CT. She started to have generalized convulsion with loss of consciousness. Dementia became apparent at age 40. In October, 1993, she became psychotic in which she behaved violently taking off her clothes shouting as "Fire". She was treated with major tranquilizers and became quiet. However, choreic movements became prominent. Her subsequent course was complicated with dysphagia, dementia, convulsion, and frequent bouts of pneumonia. She expired on January 24, 2000 after developing pneumonia. Her father and one sibling had similar motor disturbances. She was discussed in a neurological CPC. The chief discussant arrived at conclusion that the patient had dentatorubral-pallidoluysian atrophy. Most of the participants agreed with this diagnosis. Postmortem examination revealed that entire brain looked smaller than normal including the brain stem and the cerebellum. The cerebellar dentate nucleus showed loss of neurons and gliosis; glumose degenerations were also seen. The external segment of the pallidum showed neuronal loss and gliosis. The subthalamic nucleus showed gliosis without neuronal loss. A demyelinated focus was found in the pons; the lesion looked similar to central pontine myelinolysis. The cerebral white matters were unremarkable. Other areas were unremarkable. The pathological diagnosis was dentatorubral-pallidoluysian atrophy. The pathologic lesion which might explain her dementia was not apparent.     

A 77-year-old man with gait and gaze disturbance]

We report a 77-year-old Japanese man with progressive gait disturbance. He was well until his 71 years of the age (1992), when he noted an onset of disturbance in his speech, which was followed by difficulty in using his left hand. He did not attempt to use his left hand afterwards. He started to fall down in the spring of 1994. He was admitted to our service on October 6, 1994. Neurologic examination revealed an alert and oriented man. He showed limb-kinetic apraxia in his left hand with anosognosia for his apraxia. Vertical gaze was impaired. He walked in small steps. He had moderate axial and limb rigidity. He had no weakness, ataxia, or tremor. Deep tendon reflexes were normal. Plantar response was flexor. Sensation was intact. His gait had progressively become worse and he was admitted to another hospital in April of 1996. At that time he was disoriented to time. He was only able to walk a few steps with support. He continued to show limb-kinetic apraxia in his left hand. He developed dementia and dysphagia and he expired on October 27, 1998. He was discussed in a neurological CPC, and the chief discussant arrived at the conclusion that the patient had corticobasal degeneration. Most of the participants agreed with this diagnosis, but a few of them thought that progressive supranuclear palsy would be more likely. Post-mortem examination revealed no gross cortical atrophy. The right hemisphere was kept frozen for future biochemical analysis. The left precentral gyrus showed spongy changes, neuronal loss and gliosis. The pallidum, putamen, and the subthalamic nucleus were unremarkable, however, neurofibrillary tangles were seen in the subthalamic nucleus. The substantia nigra showed only slight neuronal loss; neuronal pigments were well retained. A few neurofibrillary tangles were seen in the remaining neurons. The cerebellar dentate nucleus showed grumose degeneration. Gallyas-Braak staining revealed many tuft-shaped astrocytes in the precentral gyrus. Pathologic diagnosis was progressive supranuclear palsy. Some participants thought that this diagnosis was unacceptable, because the pathologic changes in the substantia nigra, globus pallidus, and the subthalamic nucleus, which were usually severely involved in PSP, did not show typical changes of PSP. In addition, the predominant clinical feature was limb-kinetic apraxia, although he showed vertical gaze paresis and parkinsonian gait, which could also be seen in corticobasal degeneration. There was a big discussion among participants with regard to the diagnosis.     

发作性左上肢麻木 无力 头痛

<正>病历摘要患者男性,46岁。主因发作性左上肢麻木、无力6个月,发作性头痛2月余,于2013年8月16日入院。患者6个月前(2013年2月)无明显诱因出现发作性左上肢麻木、无力,每次发作持续数分钟,共发作10次,未予处理。2个月前(2013年5月27日)出现右眼黑影伴右侧头部闷痛,约4 h后出现左上肢麻木、无力,持续12 h后自行缓解,尺侧两手指轻度麻木。病程中无复视,无视力、视野改变。至当地医院就诊(2013年6月),体格检查神志清楚,语言流利,神经系统检查未见阳性体征。头部MRI检查显示,右侧额顶叶交界区、中央前回,左侧颞叶、半卵圆中心和脑桥异常信号,增强后病灶呈多发斑片状或结节样强化(图1)。全身PET显像提示颅内多发混杂密度影,伴部分病变局灶性18F-FDG代谢升高,不排除恶性病变;右肺中叶少许条索状影,前纵隔密度略升高,余未见明显异常。实验室检查血清肿瘤标志物阴性,未予治     

Evaluation of endocrine ophthalmopathy with saccadic eye movements

Summary Horizontal saccades were examined in 25 patients with hyperthyroidism and/or endocrine ophthalmopathy (EOP) using the infrared reflection method. With one exception none had restriction of horizontal eye movements. Conventional saccadic parameters were usually normal. A standardized test for muscle fatigue, however, gave pathological results in all but one of the patients with EOP, and also in three of seven patients with hyperthyroidism but no clinical EOP. In one of the latter the oculographic abnormality disappeared with treatment, while another developed clinical EOP. Performing a saccadic fatigue test seems to be useful for detecting early EOP and especially for monitoring its course.