僵人综合征的临床及电生理特点

目的探讨僵人综合征的临床及电生理特点。方法分析3例患者的临床资料，并结合文献阐述该病的临床表现、电生理特点、治疗及预后。结果僵人综合征以进行性波动的肌肉僵直和肌痉挛为特点，易由内外刺激诱发，醒时出现，入睡后减轻或消火。肌电图均特征性地表现为持续性运动单位发放。僵肢综合征为僵人综合征的变异型，多表现为肢体远端强直及痛性痉挛，躯干相对较少累及。僵人综合征患者血和脑脊液中存在谷氨酸脱羧酶抗体。结论僵人综合征是一种自身免疫疾病。诊断僵人综合征需结合临床表现及特征性的肌电图改变。用丙种球蛋白及安定类药物治疗有效。     

僵肢综合征临床分析

目的 探讨僵肢综合征（SLS）临床及电生理特点。方法 对1例僵肢综合征临床资料进行分析。并综合文献。阐述该病的临床及电生理特点。治疗方案及预后。结果 僵肢综合征是僵入综合征的变异型的一种，多与自身免疫及副肿瘤性两性因素有关，肌电图显示在静息时出现连续运动单位活动（CMUA）。与经典僵人综合征（SMS）不同，多表现为肢体远端强直及痛性痉挛，躯干相对较少累及；患者有多种抗体，糖尿病及血清抗谷氨酸脱羧酶抗体（GAD）较少见，个别患者患乳腺癌或肺小细胞癌；治疗效果不如经典SMS。结论 这是1例罕见的乳腺癌伴僵肢综合征的病例，根据临床特点，肌电图可以确诊，具有副肿瘤性及免疫学异常的特点，切除肿瘤后用大剂量激素及安全类药物治疗有效。     

伴强直及肌阵挛的进行性脑脊髓炎1例

伴强直及肌阵挛的进行性脑脊髓炎(PERM)是僵人综合征的特殊亚型, 临床罕见且诊断困难。本文报道1例PERM病例, 患者为66岁女性, 病程波动进展, 以面部肌张力增高、头颈部瘙痒、延髓受累症候群及双下肢僵直为主要临床表现, 血清及脑脊液抗谷氨酸脱羧酶抗体阳性, 肌电图见安静状态躯干及四肢近端肌大量运动单位电位持续发放, 痉挛发作时明显增强, 符合僵人综合征的肌电表现。本例患者最终诊断为PERM, 经丙种球蛋白及激素冲击等免疫治疗效果良好。PERM是临床罕见的神经系统自身免疫病, 早期症状不典型, 易漏诊误诊, 需提高认识以免延误诊断。     

神经系统副肿瘤综合征临床分析

目的 了解神经系统副肿瘤综合征患者的临床特点.方法 收集我院收治的神经系统副肿瘤综合征患者28例,对其临床资料进行回顾性分析.结果 患者多为慢性隐袭或亚急性起病,进行性加重,治疗后无明显缓解,3.8%患者在发现肿瘤后才出现神经症状;96.2%在出现副肿瘤症状后才发现肿瘤,副肿瘤综合征的临床类型有Lambert-Eaton肌无力综合征8例、周围神经病7例、多发性肌炎和皮肌炎4例、脑干脑炎3例、进行性小脑变性2例、边缘系统脑炎2例、运动神经元病1例、进行性多灶性白质脑病1例.结论 神经系统副肿瘤综合征临床表现形式多样,容易误诊,临床早期确诊对于隐匿肿瘤的发现和治疗非常重要.     

异位胸腺瘤一例

胸腺瘤通常位于前上纵隔,而位于其他部位者则称为异位胸腺瘤。异位胸腺瘤临床少见,常因临床表现不典型而不易诊断。此文报道1例以肌无力为主要表现的恶性异位胸腺瘤。1临床资料患者女,43岁,因进行性四肢无力1年于2001-03-01入院。入院前1年患者开始出现四肢无力,休息后可稍缓解,无发热、咳嗽、呛咳、进食哽噎等。在作者医院门诊曾行肌电图、肌酶谱检查结果正常,诊断为“肌疲劳综合征”并给予B族维生素、能量合剂等治疗,症状缓解不明显,但生活基本能自理。入院前10 d患者四肢无力加重,走路不稳,无明显晨轻暮重,逐渐进展至起床困难、生活不能…     

14例抗Hu抗体阳性神经系统副肿瘤综合征临床特征分析

目的 探讨抗Hu抗体阳性神经系统副肿瘤综合征(PNS)的临床特征。方法 收集2016年1月至2020年9月郑州大学第一附属医院收治的抗Hu抗体阳性的确诊PNS的患者,均依据2021年副肿瘤综合征更新诊断标准及PNS诊断评分系统(PNS-Care Score)进行诊断。患者均随访至2021年8月,分析其临床表现、治疗及预后。结果 共收入14例PNS患者,男8例、女6例,年龄42～74岁,平均(58.93±9.50)岁。14例PNS患者中表现为周围神经病9例(64.3%),其中7例(50.0%)为感觉运动神经病、2例(14.3%)为感觉神经元病,表现为边缘性脑炎和快速进展性小脑综合征各2例(14.3%)、脑干脑炎1例(7.1%);合并小细胞肺癌11例(78.6%),乳腺癌、胸腺瘤及B细胞淋巴瘤各1例(7.1%)。14例中11例(78.6%)在肿瘤确诊之前出现神经系统症状,延迟诊断15 d至14个月,中位延迟时间为4.00(2.00,6.00)个月。14例PNS患者中,8例接受肿瘤治疗,8例接受免疫治疗,其中甲泼尼龙冲击6例、丙种球蛋白治疗2例,3例仅接受对症治疗;3例病情好转,11例死亡。...     

僵人综合征8例的临床、电生理特点和治疗

目的分析僵人综合征(stiff-person syndrome,SPS)的临床、电生理特点和治疗。方法回顾性收集8例SPS患者的临床、电生理和实验室检查资料。结果 8例均表现为经典型SPS,进行性肌肉强直痉挛,阵发性加重,均累及腰背部脊旁肌和双下肢,其他可受累部位为胸壁、腹壁、上肢、颈部和头面部。7例行肌电图,5例受累肌肉安静时可见持续性运动单位电位活动(continuous motor unit activity,CMUA),2例注射地西泮后CMUA明显减少。5例送检抗GAD抗体,1例阳性。8例使用苯二氮卓类药物后症状减轻;3例联合免疫治疗(糖皮质激素1例,IVIG 2例)症状进一步改善;2例伴胸腺瘤,胸腺切除术后症状完全好转。结论 SPS表现为进行性肌肉强直痉挛,阵发性加重,最常累及躯干和双下肢肌肉,肌电图表现为受累肌肉安静时出现CMUA,苯二氮卓类药物联合免疫治疗有效,合并胸腺瘤者治疗肿瘤后SPS症状好转。     

POEMS综合征3例报告并文献复习

目的对POEMS综合征的临床特点进行总结,以提高对此病的掌握与鉴别诊断能力。方法报道3例POEMS综合征患者临床表现、实验室检查、治疗方法及转归并复习相关文献。结果 3例患者均存在周围神经病变,其中2例男性患者以双足底踩棉花感为首发表现,逐渐出现双下肢麻木无力、肌肉萎缩、局部水肿、皮肤颜色变黑、男性乳腺发育等症状,1例女性患者以面部、四肢皮肤及乳头变黑为首发表现,逐渐出现足底踩沙感,双下肢麻木无力、闭经、水肿等症状。3例患者免疫固定电泳均检测出M蛋白;1例患者病程中曾查M蛋白阴性,至病程终末期出现血M蛋白及本周氏蛋白尿。3例从首诊到确诊时间分别为16个月、3 y和5 y。对3例患者进行随访观察,1例患者症状改善明显,2例确诊较晚患者死亡。结论 POEMS综合征是一组较少见的与浆细胞病变相关的副肿瘤综合征。临床表现多样,确诊时间较长,早期病例易被误诊,需仔细分析临床及实验室检查资料避免误诊误治。     

重症肌无力伴Caspr2抗体相关莫旺综合征的临床特点(附1例报告)

目的 探讨抗乙酰胆碱受体(AChR)抗体及抗接触蛋白相关蛋白-2(Caspr2)抗体重叠综合征的发病机制、临床表现、诊断及治疗方法。方法 回顾性分析1例抗AChR抗体阳性的重症肌无力(MG),同时伴抗Caspr2抗体阳性的莫旺综合征患者的临床表现及治疗过程。结果 患者有胸腺瘤及手术切除病史,抗AChR抗体及Caspr2抗体双阳性,表现除眼睑下垂、复视,吞咽困难、肢体无力及肌无力危象等MG症状,还表现有自主神经症状、肌肉颤搐及疼痛、严重睡眠障碍和波动性生动视幻觉等莫旺综合征的典型临床表现,予丙种球蛋白、糖皮质激素等免疫治疗后症状好转,继续泼尼松、硫唑嘌呤续贯治疗,随访2年未再复发。结论 MG的抗AChR抗体及莫旺综合征的抗Caspr2抗体均于胸腺瘤密切相关,提示可能存在胸腺瘤相关抗体疾病谱。其发病机制尚待进一步研究,临床表现复杂,长程免疫治疗有助于控制病情、减少复发。     

45例Isaacs综合征临床与肌电图

目的分析少见的Isaacs综合征的临床特点厦肌电图表现并探讨其可能的发病机制。方法将1995～2005年10年间收治的45例Isaacs综合征的发病谤因、临床表现、电生理表现进行分析。结果45例患者中发病年龄多为青壮年,女性多见,主要表现为自发性连续性肌肉颤搐。睡眠时不消失并伴有多汗,少数伴发重症肌无力,胸腺瘤。免疫治疗有效。肌电图表现为持续的自发运动电位发放。结论Isaacs综舍征是一种自身免疫性疾病,病变部位可能为周围神经运动纤维、神经末梢运动终板厦运动纤维的末端。诊断主要靠临床表现结合肌电图。     

Progressive encephalomyelitis with rigidity and myoclonus in an 81-year-old patient

We present the case of an 81-year-old female with severe rigidity, stiffness and superimposed muscle spasms that represents the oldest reported patient with progressive encephalomyelitis with rigidity and myoclonus. Two associated autoimmune disorders (diabetes mellitus and Hashimoto's thyoiditis) were recently diagnosed. A paraneoplastic origin was excluded. The spectrum of differential diagnoses including classic Stiff-Person syndrome and paraneoplastic Stiff-Person syndrome is discussed.     

伴黑质超声异常的副肿瘤性僵人综合征1例报道

目的 探究僵人综合征发病临床表现、免疫学检查、神经电生理(肌电图、黑质超声)特点及治疗方法.方法 分析1例僵人综合征患者,并整理其临床资料,同时对临床特点、辅助检查(腹部增强CT、肺部CT、肌电图、黑质超声、血清免疫学检查、血清副肿瘤性神经综合征11项)及治疗经过进行详细梳理.结果 本病例临床表现为左下肢肌肉抽搐伴僵硬...     

The stiff man and stiff man plus syndromes

Rigidity in the setting of continuous motor unit activity at rest can be caused by a variety of central and peripheral conditions. A central origin is suggested by the presence of painful reflex spasms. Focal spinal lesions and infective causes are relatively easily excluded through imaging, microbiological and serological studies. There then remain a group of patients who may have the classical ‘stiff-man syndrome’ or a related syndrome. When strict diagnostic criteria are used, patients with the stiff man syndrome uniformly have axial rigidity, and about 90% are found to have antibodies against glutamic acid decarboxylase. Treatment response and prognosis are excellent. Stiff persons with ‘plus’ signs, particularly those with rigidity of a distal limb, are unlikely to have the classical stiff man syndrome. They have a poorer treatment response and prognosis. Some have a paraneoplastic aetiology, while a non-malignant autoimmune basis seems likely in others. Those in whom post-mortem pathology findings are available usually are seen to have had an encephalomyelitis with prominent involvement of the grey matter. Clinically, stiff persons with ‘plus’ signs may be divided into three groups according to the aggressiveness of the pathology and its relative distribution. Encephalomyelitis with rigidity follows a relentless subacute course, leading to death within 3 years. Chronic cases may present with predominantly brainstem involvement, including generalised myoclonus (the ‘jerking stiff person syndrome’) or spinal cord involvement, dominated by stiffness and spasm in one or more limbs (the ‘stiff limb syndrome’). Received: 4 June 1998 Received in revised form: 28 October 1998 Accepted: 12 December 1998     

Phenotypic and neuropathologic heterogeneity of anti-Hu antibody-related paraneoplastic syndrome presenting with progressive dysautonomia: report of two cases

The anti-Hu antibody (HuAb) is directed against RNA-associated neuronal proteins and is known to cause paraneoplastic encephalomyelitis/sensory neuronopathy syndrome mostly when associated with small cell lung cancer (SCLC). Paraneoplastic encephalomyelitis/sensory neuronopathy syndrome with concurrent autonomic neuropathy has been reported to occur in paraneoplastic syndromes, although its occurrence concomitant with acute pandysautonomia is less frequent. The authors describe the clinical, neuropathologic, and serologic features of two cases with an anti-Hu-related paraneoplastic syndrome presenting with progressive autonomic neuropathy. Both patients showed features of dysautonomia, including postural dizziness, abdominal pain, and diarrhea, and symptoms of sensory neuropathy. Investigations disclosed severe sensory and autonomic neuropathy and positive HuAb titers. The disease of patient 1 had a very rapid progression, and the patient died of cardiac arrest within 2 months of the onset of symptoms. The autopsy revealed SCLC. In contrast, the disease of patient 2 had a less aggressive course. An extensive tumor search disclosed SCLC only 28 months after onset of symptoms, and the patient died 1 month later of cardiorespiratory arrest. Autopsies in both cases showed inflammation involving the intermediolateral columns and the dorsal root ganglia. These two cases illustrate the association of early dysautonomia with HuAb-related paraneoplastic syndrome and the variations of clinical, neuropathologic, and serologic findings in these types of cases.     

Multiple enlarged nerves on neurosonography: an unusual paraneoplastic case

Multiple nerve enlargements at non-entrapment sites are usually caused by hereditary or acquired immune-mediated neuropathies.We describe a case of multifocal hypertrophic mononeuropathies detected by nerve sonography with a clinical picture of progressive mononeuritis multiplex caused by a paraneoplastic syndrome associated with anti-Hu antibodies. This case illustrates an unusual but important paraneoplastic differential diagnosis of progressive multifocal hypertrophic neuropathies. It emphasizes the role of nerve ultrasound in the diagnostic work-up of peripheral nervous system disorders.     

Acute behavioural change in a young woman evolving towards cerebellar syndrome

Symptomatic paraneoplastic neurological syndromes are rare manifestations of cancers. Recently, a new type of encephalitis associated with antibodies against NMDA-glutamate receptors (A-NMDAR) was defined. The patients, usually young women, present with acute onset of psychiatric symptoms and decreased consciousness. We describe the case of a patient who presented with acute onset of delirium alternating with sub-comatose state. Blood analyses were within normal range. Lumbar puncture showed lymphocytic pleiocytosis. Brain gadolinium injected MRI, brain and full body PET scans were normal. Investigations led to suspect a paraneoplastic syndrome and a right ovarian teratoma and A-NMDAR were found and the teratoma removed. The remaining sequellae included a cerebellar syndrome seldom described before. As cerebellar and cortical neurons share the same excitatory pathway through NMDA-glutamate receptors, the cerebellar function impairment observed in our patient could be explained by a disabling action on glutamate NMDAR by the A-NMDAR.