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...     

急性小脑共济失调症1例报告

急性小脑共济失调症１例报告乔春茹，石炳华患者，男，１８岁。６个月前上呼吸道感染后出现眩晕、呕吐，言语不清，走路不稳。在当地医院用激素及神经营养药物治疗１月后，上述症状减轻。入院查体：暴发性语言，颅神经未见异常。四肢肌张力低，肌力正常，双侧指鼻及跟膝胫...     

外科治疗小脑性共济失调35例

1992年5月起，我们手带蒂领肌和领浅动脉脑皮层贴敷治疗大脑半球缺血性疾病的基础上，设计了用两侧枕动脉和枕肌小脑贴敷与后颅窝减压的手术方法，治疗小脑性共济失调35例，现报告如下。1临床资料1．1一般资料本组男19例，女16例，年龄12－56岁，平均36．7岁，病程2－12年。家性遗传性共济失调16例，外伤性小脑性共济失调1例，推—基底动脉供血不足性共济失调2例，橄榄体桥小脑萎缩5例，脊髓小脑共济失调6例，小脑发育不全5例。1．2临床表现四肢共济失调、步态不稳、行走瞒册35例（100％），不同程度的眼球震颤35例（100％），语言欠流利或…     

小脑性共济失调13例病例报道

目的:探讨以进行性小脑性共济失调为主要临床症状的疾病诊断。方法:回顾性分析13例以慢性进行性小脑共济失调为主要临床表现患者的临床资料、实验室、影像学和基因检查结果。结果:13例患者中,脊髓小脑性共济失调3例,多系统萎缩-小脑型6例,小脑肿瘤1例,桥小脑结合臂脓肿1例,小脑梗死后遗症2例。结论:对于以进行性小脑共济失调为主要体征的患者,临床上首先要排除占位性病变,其次多系统萎缩和脊髓小脑性共济失调为主要的遗传变性病因。     

小脑型共济失调所致精神障碍1例

1 病例 男性,27岁.因"情绪低落与高涨交替出现3年,失眠、易激惹、乱花钱2个月余伴冲动ld"于2012年5月14日入院.2009年初出现失眠,入睡困难,情绪低落,话少,不想做事,感觉活着没有意义,持续2个月.此后又出现情绪高涨、精力充沛、感觉良好,话多、兴奋、易发脾气,持续1个月.曾就诊于上海多家医院的精神科,诊断不详,先后服丁螺环酮、氟西汀、帕利哌酮、拉莫三嗪等药物,病情好转.2个月前又出现失眠,一晚仅睡4～5h,易激惹,外出乱跑,乱花钱;当日因在邮局办信用卡不成,冲动打坏柜台而被送医.既往史:13岁无诱因逐渐出现双下肢无力、步态不稳、走路困难及构音不清;就诊于上海华山医院,头颅CT示小脑萎缩,诊断小脑型共济失调;高二时因学习困难辍学,生活不能自理.     

遗传性小脑共济失调揿形式诱发电位研究

目的 研究遗传性小脑共济失调的诱发电位变化。方法 采用多种形式诱发电位，对３６例此类疾病的患者进行检测，并与３０－４０名健康者作对比。结果 全部患者至少存在１各皮上的诱发电位异常。磁刺激运行诱发电位（ＭＥＰ）、脑干听觉诱发电位（ＢＡＥＰ）及胫后神经与正中神经体感诱发电位的异常率分别为８３．３％、８８．９％、８０．０％和６２．５％。不同类型小脑共济失调的诱发电位异常率不同，各型ＢＡＥＰ的异常率普遍较     

急性双侧小脑中脚缺血性卒中一例

<正>患者女性,87岁。因头晕伴站立不稳3 d,于2014年3月31日入院。患者入院前3 d突发头晕伴站立不稳、行走不能,无头痛或视物旋转。外院急诊头部CT检查显示双侧基底节区、放射冠多发性腔隙,呈增龄性改变,临床诊断为腔隙性梗死。予以醒脑静注射液20 ml/d和丹红注射液20 ml/d静脉滴注,连续治疗3 d后病情无明显改善,遂以"头晕、行走不稳待查"收入我院神经内科。患者既往有明确     

Increased enolase activity in erythrocytes in a family with cerebellar ataxia

ABSTRACT- We have studied erythrocyte metabolism in a family affected by cerebellar ataxia. 3 of the subjects showed a severe clinical picture, and 3 were clinically normal. In all 6 subjects, we have revealed an increase in enolase activity in erythrocytes. These findings may be relevant for early diagnosis of the disease.     

Absence of mutations in ATM, the gene responsible for ataxia telangiectasia in patients with cerebellar ataxia

Ataxia-telangiectasia (AT) is an autosomal recessive multisystent disorder presenting in childhood with progressive cerebellar ataxia, oculocutaneous telangiectasia, immune deficiency, radiosensitivity, and cancer predisposition. The gene for AT, designated ATM (AT, mutated) encodes a protein with a carboxy-terminal phosphoinositide-3 kinase domain which is involved in cell cycle checkpoints and other responses to genotoxic stress. Most of the patients with the classical AT phenotype are homozygous or compound heterozygous for severe mutations causing truncation or destabilization of the ATM protein. Patients with a milder forms of disease, called AT variants, have been found to be either homozygous for milder mutations or compound heterozygotes for null alleles and mild mutations. In order to define the clinical phenotype of patients homozygous (or compound heterozygotes) for other, milder mutations, we decided to search for ATM mutations in patients with either sporadic or familial idiopathic ataxia. Thirty-four patients with idiopathic cerebellar ataxia, aged 3–77 years, were screened for mutations in the ATM coding region. There were 12 familial cases. None of the patients had abnormal immunoglobulin or α-fetoprotein levels, and none had mutations in the ATM coding region. In this heterogeneous group of patients with cerebellar ataxia we found no mutations in the ATM gene. We conclude that mutations in the ATM gene are probably not a common cause for cerebellar ataxia other than AT. Received: 29 October 1998 Received in revised form: 5 February 1999 Accepted: 7 February 1999     

Statin-associated cerebellar ataxia. A Brazilian case series

BackgroundDrug-induced cerebellar ataxias (DICA) represent an important group of secondary cerebellar ataxias. Herein, we reported a case series of progressive cerebellar ataxia induced by HMG-CoA reductase inhibitors (statins).MethodsObservational study with a Brazilian case series of patients with cerebellar ataxia due to statins use.ResultsWe described four patients with cerebellar ataxia, predominantly gait ataxia, due to statins use. Mean age was 67.5 years old, predominantly male, with several comorbidities, such as dyslipidemia, diabetes mellitus, hypertension, and myocardial revascularization. After statin withdrawal, and treatment with coenzyme Q10 in some patients, progressive improvement of gait ataxia was observed.DiscussionWe presented a case series of four patients with cerebellar ataxia due to statins use, which represents a new rare side-effect of statins, probably related to coenzyme Q10 deficiency.     

Delayed cerebellar ataxia complicating falciparum malaria: A clinical study of 74 patients

We report the clinical features of 74 patients with delayed cerebellar ataxia (DCA) following falciparum malaria, who were prospectively followed up at two centres. This unusual complication has an acute onset, with signs suggesting a predominantly midline cerebellar lesion without any evidence of cerebral involvement. There was a delay of a median 13 days between the onset of fever and the onset of ataxia. DCA has a good prognosis, with spontaneous and complete recovery within 3 months. In our opinion, it is an example of a post-infective neurological syndrome possibly mediated via an immune mechanism.     

奥卡西平诱发低钠血症一例

<正>患者男性,56岁。因发作性肢体抽搐2次,于2013年5月15日入院。患者10 d前癫发作时出现四肢抽搐伴意识不清,共发作2次,每次持续约2 min后自行缓解。既往高血压病史5年,2年前(2011年3月)因脑出血行左侧额颞顶叶去骨瓣减压术,术后1个月出现癫发作,服用奥卡西平150 mg(2次/d)至今,发作控制良好。近两年来服用利尿剂吲达帕胺2.50 mg(1次/d)控制血压。入院后体格检查:血压120/80 mm Hg(1 mm Hg=0.133 kPa)。嗜睡、精神萎靡,呈完全性失语;四肢肌张力增高,以右肢显著;双侧Babinski征可疑阳性。头部CT显     

李斯特菌性脑膜炎一例

正患者女性,21岁,主因头痛5 d伴发热2 d,于2015年3月13日入院。患者入院前5 d(2015年3月8日)无明显诱因突发头痛,表现为全头部持续性胀痛,未见缓解,发作时不伴发热、意识障碍、言语障碍和肢体活动障碍,疼痛症状持续无好转。入院前2 d(2015年3月11日)由于头痛至当地医院就诊,体格检查:体温38.8℃;实验室检查:腰椎穿刺脑脊液检查压力270 mm H_2O(1 mm H2O=9.81×10~(-3)k Pa,     

硬脊膜夹层囊肿伴脊柱后凸畸形一例

正患者女性,35岁,主因脐部以下、双膝以上麻木8年、加重2个月,于2016年1月13日入院。患者8年前无明显诱因出现脐部以下、双膝以上间断性麻木并呈进行性加重,伴双下肢疼痛,无明显痛温觉减退,无明显活动受限,小便时感觉麻木。当地医院行胸腰椎MRI检查(2007年10月12日)显示,T~L1T~L     

Regressive dystonia and cerebellar ataxia: two unusual symptoms in central pontine myelinolysis

Two patients with central pontine myelinolysis who presented with dystonia are described. In one, it was associated with cerebellar ataxia which spontaneously improved. In the second, dystonia progressively disappeared 6 months later. In both cases magnetic resonance imaging (MRI) revealed characteristic pontine lesions. Extrapontine myelinolysis involving the putamen was also observed in one patient. Even when the basal ganglia seem to be spared on MRI, dystonia is probably due to their involvement by myelinolysis. Cerebellar ataxia may be related to peduncular or cerebellar lesions or both.     

血管外皮细胞瘤窦汇区转移一例

正患者男性,54岁,主因血管外皮细胞瘤术后10年,枕部肿物6个月并间断性头痛3个月,于2015年1月28日入院。患者10年前因头痛、右侧肢体活动不利首次入院。体格检查和实验室检查均未见明显异常。头部MRI增强扫描显示,上矢状窦中1/3旁占位性病变,呈不均匀强化,周围脑组织水肿不明显(图1a)。临床诊断为上矢状窦中1/3旁脑膜瘤,行开颅肿瘤切除术,达Simpson切除标准Ⅲ级