连枷臂综合征临床特点分析

连枷臂综合征是肌萎缩侧索硬化的一种良性的临床变异型,一般男性多见,起病缓慢,生存期较长,主要临床特征为对称性双上肢近端显著的肌无力、肌萎缩,而双下肢、球部功能受累较轻。神经电生理检查表现为3个以上脊髓节段的广泛神经源性损害。目前缺乏针对连枷臂综合征的药物研究,利鲁唑是唯一批准用于肌萎缩侧索硬化的药物。     

连枷臂(腿)综合征的临床、电生理和病理特点

目的探讨连枷臂综合征(flailarm syndrome,FA)和连枷腿综合征(flailleg syndrome,FL)患者的临床、电生理和骨骼肌病理改变特点。方法收集2007-01-2011-10期间就诊于海军总医院神经内科的FA和FL患者。所有患者均进行了详细的病史询问、体格检查以及电生理检查。2例患者行肌肉病理检查。结果 5例患者中FA 4例、FL 1例,男4例、女1例,发病年龄为18～65岁,平均35岁,病程分别为2年、2.5年、3年、14年和31年。FA表现为双上肢近端无力伴萎缩;FL表现为下肢远端无力伴跟腱反射消失。疾病后期FA向肢体远端发展,FL向肢体近端发展,其他节段轻微受累。肌电图显示部分受累肌肉出现失神经支配,运动和感觉神经传导速度正常。肌肉病理呈典型神经源性骨骼肌损害的病理特点。结论 FA和FL是肌萎缩侧索硬化(ALS)的一种变异型,病情进展呈良性过程。电生理和病理均符合失神经支配骨骼肌损害的特点。     

连枷臂综合征临床与病理分析

目的研究连枷臂综合征(FAS)的临床和病理特点。方法回顾性收集整理90例肌萎缩侧索硬化患者的临床资料,从中筛选出FAS患者,并总结分析其临床表现、实验室检查、电生理及活检骨骼肌病理特点。结果 90例肌萎缩侧索硬化患者中有8例为连枷臂综合征。连枷臂综合征患者主要临床特征为对称性双上肢肌无力和肌萎缩;血肌酸激酶正常或轻中度升高;肌电图显示脊髓4个节段中3个或以上支配区出现纤颤、正相波,动作单位电位增宽、增高。活检骨骼肌主要病理表现为小角化肌纤维、肌原纤维网紊乱、"靶纤维"。结论连枷臂综合征是肌萎缩侧索硬化的临床变异型,电生理检查能发现亚临床脊髓受累,有助于连枷臂综合征的诊断和鉴别诊断。     

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.     

Complex partial seizures. Clinical features and differential diagnosis.

Complex partial seizures are the most common seizure type in patients with partial epilepsy. Most complex partial seizures emanate from the temporal lobe; however, the seizures also may be extratemporal in origin. The clinical phenomenology may distinguish complex partial seizures from nonepileptic paroxysmal disorders and other seizure types. Physiologic and psychological disorders need to be considered in the differential diagnosis of seizure activity. Long-term EEG monitoring may be necessary for select patients to confirm the diagnosis of epilepsy and to classify appropriately seizure type. Carbamazepine and phenytoin are the antiepileptic drugs of choice in the management of complex partial seizures. Polypharmacy and use of cognitively impairing antiepileptic drugs may reduce patient compliance and further impair the quality of life of the patient with epilepsy. Finally, epilepsy surgery is an important alternative for the patient with intractable partial seizures.     

Carotid-cavernous fistulas: Clinical features, management and differential diagnosis

Carotid-cavernous fistulas are abnormal communications between the carotid system and the cavernous sinus. Depending on their direct or indirect nature, they have different clinical manifestations and management. Are discussed in this paper: first the anatomy of the cavernous sinus, then clinical signs, diagnosis, management and differential diagnosis of carotid-cavernous fistulas.     

Clinical predictors and differential diagnosis of posterior reversible encephalopathy syndrome

The aim of our study is to determine the clinical predictors and the differential diagnosis of posterior reversible encephalopathy syndrome (PRES) in patients presenting with acute neurological symptoms and risk factors for PRES. Using the diagnostic algorithm for PRES from Fugate and Rabinstein (Lancet Neurol 14(9):914–925, 1), we carried out a retrospective study on 220 patients, presenting with acute neurological symptoms such as seizures, encephalopathy, headache, visual disturbances or other focal neurological signs that appear in the clinical setting of risk factors such as hypertension/blood pressure fluctuations, chemotherapy, renal failure, autoimmune disorders, or eclampsia, in whom imaging of the brain was performed to exclude PRES. Seventeen percent of patients had a radiologically confirmed diagnosis of PRES. Univariable logistic regression showed a significant association between PRES and epileptic seizures, encephalopathy, hypertension, chemotherapy and renal failure. Multivariable logistic regression of acute neurological symptoms and risk factors showed a significant association of epileptic seizures, encephalopathy, visual disturbances, hypertension and chemotherapy with PRES. Using these variables to predict PRES yielded a discriminative ability (AUC) equal to 0.793. Diagnoses when PRES was not confirmed included primary or secondary headaches (26%), toxic-metabolic encephalopathy (21%), vascular pathology (12%) and other less frequent disorders. Epileptic seizures, encephalopathy, visual disturbances, hypertension, renal failure and chemotherapy were the best clinical predictors of PRES, while headache, immune suppression and autoimmune disease were not useful for the clinical diagnosis of PRES in our study.     

Involvement of cortico-efferent tracts in flail arm syndrome: a tract-of-interest-based DTI study

Journal of Neurology - Flail arm syndrome is a restricted phenotype of motor neuron disease that is characterized by progressive, predominantly proximal weakness and atrophy of the upper limbs. The...     

18例瘤型脑脓肿的临床特点及鉴别诊断

目的 总结瘤型脑脓肿的临床特点并探讨其诊断方法.方法 回顾性分析中山大学肿瘤防治中心神经外科自2000年10月至2007年2月间收治的18例瘤型脑脓肿患者的临床资料,并随访其术后恢复情况.结果 共有18例腩脓肿在外院诊断为肿瘤,其中诊为胶质瘤11例,转移瘤7例.冬春季节发病16例.18例均未发现原发性感染灶,2例入院前1月有发热病史.入院后白细胞总数10.1×109/L～13.7×109/L者7例,其中6例中性粒细胞比率80.8%～90.5%,白细胞总数正常11例.入院后患者均行MRI检查,14例诊为腩脓肿,2例诊为转移瘤,诊为胶质瘤及寄生虫病各一例.细菌培养结果 为无菌生长9例,革兰阳性菌4例,链球菌3例,表皮葡萄球菌、肺炎克雷伯菌各一例.手术切除12例,穿刺引流6例.术后随访1～6年,治愈17例,好转1例.结论瘤型脑脓肿常发生于冬春季节,临床表现不典型,MRI扫描是其最有价值的辅助榆查方法 .在脑脓肿与坏死囊变脑肿瘤的鉴别诊断中,MRS和DWI足常规MRI扫描的重要补充.     

Clinical review: Medical differential diagnosis and treatment of the autistic syndrome

Autism, like mental retardation, is not a definitive diagnosis. This paper discusses the medical differential diagnosis to consider when patients present with autistic symptoms. Summarizing the medical literature, the known infectious, metabolic, chromosomal and structural lesions are reviewed. Autism also can be associated with sensory handicaps, such as blindness and deafiness. When the autistic syndrome is associated with a second syndrome, this produces a double syndrome in the patient. A thorough medical evaluation of all individuals with autism is suggested.

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Zusammenfassung Autismus kann ebenso wie geistige Behinderung nicht als definitive Diagnose aufgefaßt werden. In dieser Arbeit werden die differentialdiagnostischen Probleme erörtert, die sich bei Patienten mit autistischen Symptomen stellen. Dabei wird die medizinische Literatur, einschließlich der bekannten ideologischen Noxen wie infektiöse Erkrankungen, metabolische Erkrankungen, Chromosomenstörungen und strukturelle Hirnschädigungen abgehandelt. Autismus kann ebenso mit Sinnesbehinderungen wie Blindheit und Taubheit assoziiert sein. Wenn ein autistisches Syndrom gemeinsam mit einem anderen klinischen Syndrom vorkommt, so liegt ein doppeltes Syndrom vor. Eine sorgfältige ärztliche Untersuchung aller Individuen mit Autismus wird als dringend notwendig vorgeschlagen.

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Résumé L'autisme, comme le retard mental, n'est pas un diagnostic définitif. Cet article discute les diagnostics médicaux différentiels qu'il faut prendre en compte devant un patient présentant des symptômes autistiques. En reprenant la littérature médicale, les infections connues, les lésions métaboliques, chromosomiques et structurelles sont passées en revue. L'autisme peut aussi être associé avec des handicaps sensoriels tel que la cécité et la surdité. Quand le syndrome autistique est associé avec un second syndrome on a affaire à un double syndrome chez le patient. Une large évaluation médicale chez tous les individus présentant un autisme est conseillée.

     

Joubert综合征的MRI诊断与鉴别诊断

目的 探讨Joubert综合征的临床特点及MRI表现,提高对本病的认识及诊断正确率. 方法 回顾性分析南方医科大学珠江医院自2001年至2012年确诊的3例Joubert综合征患儿资料,结合相关文献对该病的临床及影像学特征、鉴别诊断要点进行总结. 结果 3例患儿均显示出典型的MRI表现,即由于小脑蚓部发育不育导致的复杂的脑干畸形,包括中脑水平“磨牙征”、小脑半球间“中线裂”及第四脑室变形呈“蝙蝠翼状”改变.临床上,3例患儿均出现新生儿期肌张力减退、阵发性呼吸频率改变(1例伴呼吸暂停)及运动、智力发育迟缓,仅1例眼球活动异常(斜视). 结论 Joubert综合征MRI表现具有特征性,但确诊必须结合临床表现,应注意与其他小脑蚓部发育异常病变相鉴别.     

Clinical features of 1039 patients with neurophysiological diagnosis of carpal tunnel syndrome

PURPOSE: To describe the clinical features of patients with a neurophysiologic diagnosis of carpal tunnel syndrome (CTS) in the state of Rio Grande do Sul, Brazil. METHODS: We prospectively studied 1039 patients with a neurophysiologic diagnosis of CTS in southern Brazil. All patients completed a clinicoepidemiological questionnaire which included a drawing of the arm and hand, in which they were asked to paint the areas in which paresthesia and pain occurred. In part of the sample, we also investigated the presence of clinical signs such as Tinel's, Phalen, and tenar atrophy. The diagnosis of CTS was performed using a predetermined neurophysiological protocol. RESULTS: A total of 1528 hands were diagnosed with CTS. The severity of CTS was mild in 42% of cases, moderate in 18% and severe in 40%. Patients had a mean age of 48.3 +/- 12.4 years old, and a ratio of 5.6 females to 1 male was observed. Symptoms restricted to the hand and wrist was observed in 51.8% of cases with paresthesia and in 18.5% of cases with pain. In 92.5% of the partially affected hands, paresthesia was present in at least one of the first three fingers, while pain affected the three first fingers in 78.8% of these hands. Pain with a distribution which did not involve the hand occurred in 18.5% of cases, while paresthesia without involvement of the hand occurred in only 1.9%. Distribution of symptoms, according to Katz's hand diagram, showed a classic pattern in 12.6% of affected hands, a pattern classified as probable CTS in 66.3%, and an unlikely CTS pattern in 4.1%. Tinel's and Phalen's sign were observed in 34.2 and 56.3% of the hands, respectively. CONCLUSION: The clinical presentation of CTS is pleomorphic, ranging from the absence of symptoms to very severe cases. This variation probably is dependent on coexistent diseases, such as tendinitis and fibromyalgia, as well as on subjective aspects of the patients.     

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。     

Clinical features and diagnosis of spinocerebellar ataxia

In the past decade, a great progress has been made in understanding genetic basis of the spinocerebellar ataxia. Based upon the genotypes, more then 20 subgroups of autosomal dominant spinocerebellar ataxia have been identified with different gene mutations. Neither the pathomechanism nor the function of these genes is fully understood. In these disorders the main clinical sign is ataxia. Other symptoms may be present as well, but no specific clinical feature is known for differentiating subgroups. Specific diagnosis can be made by genetic tests. In this review we summarize the clinical features and genetic backgrounds of the most common spinocerebellar ataxias.