神经性肌强直研究进展

神经性肌强直(neuromyotonia,NMT)是由多种原因引起的以肌肉蠕动、肌强直、肌阵挛及多汗症为特征的临床综合征,电生理表现为周围神经高兴奋性.现就NMT的病因、发病机制、临床表现、实验室检查及治疗等研究进展进行综述.     

Isaacs综合征5例报告并文献回顾

目的探讨Isaacs综合征潜在的发病机制、临床表现、诊断及治疗。方法回顾性分析2017年3月至2019年3月收治的5例Isaacs综合征患者临床资料,并进行相关文献复习。结果 5例患者均为男性,主要表现为肌肉颤搐、痉挛、多汗,4例予以卡马西平和泼尼松口服治疗,效果良好。结论 Isaacs综合征临床罕见,对症治疗和免疫治疗不可或缺。     

2例Isaacs综合征报道并文献复习

目的 探讨Isaacs综合征的发病机制、临床特点、诊断及治疗.方法 报道2例Isaacs综合征患者并行文献复习分析.结果 2例均有自发性肌肉颤搐,睡眠时症状不消失.肌电图发现持续的自发运动电位发放的颤搐电位或(和)肌强直性放电.第二例患者尚见双侧正中神经、右胫神经F波未引出并有多条神经运动、感觉传导速度降低.卡马西平或苯妥英钠治疗后症状控制良好.结论 Isaacs综合征是一种自身免疫性疾病.肌肉颤搐及典型肌电图表现是诊断关键,卡马西平和苯妥英钠为首选治疗药物.     

获得性神经性肌强直的临床,电生理及其免疫学…

本文报告１例３８岁女性肺癌患者伴进行性全身肌肉连续性抽搐，痉挛，僵硬和无力，胸片和胸部ＣＴ提示右上肺中心型肺癌，肺不张，脑脊液ＩｇＧ增高，寡克隆区带阳性。肌电图呈连续性高频肌强直放电，发作间期可见束颤电位。周围神经封闭可缓解全部肌强直症状，并消除肌电图异常连续性放电。     

神经性肌强直1例报告

1　病　例　男 ,5 1岁 ,教师 ,已婚 ,因双下肢肌肉自发性颤动已 14年于 1995年来我院诊治。患者 37岁 (1981年 6月 )起病 ,初为左小腿有铜钱大一块肌肉跳动 ,未介意 ,5个月后左大腿、左小腿、脚趾都出现肌肉颤动 ,次年 4月右腿肌肉也出现颤动。 14年来下肢肌肉颤动日夜不停 ,有     

神经性肌强直

神经性肌强直是一种罕见的周围神经高兴奋性综合症。此文就其可能的病因、临床及电生理特征等方面进行综述。     

神经性肌强直1例报告

神经性肌强直１例报告孙竹萍，赵节绪，周春奎，刘振铎神经性肌强直是极为少见的一种疾病。我科收治１例经神经活检证实，并合并周围神经病，用苯妥英钠治疗可使症状缓解，现报道如下：患者，女，４３岁，１９９３年以周身麻木６年，颜面、四肢肌肉发硬伴颤动４年入院。６...     

Isaacs综合征1例报道和文献复习

目的：探讨Isaacs综合征的发病机制、临床特征、诊断和治疗。方法：回顾性分析中国医科大学附属第一医院神经内科收治的1例Isaacs综合征患者的临床表现、辅助检查、治疗和预后,结合文献进行分析。结果：患者男性,71岁。主要表现为自发性肌肉颤搐,睡眠时症状不消失。肌电图可见颤搐电位和轻度运动神经传导速度减慢。卡马西平治疗后症状控制良好。结论：Isaacs综合征是一种自身免疫性疾病,病因尚不明确,肌肉颤搐及典型肌电图表现是诊断关键,卡马西平和苯妥英钠为首选治疗药物。     

神经性肌强直2例报告

神经性肌强直亦称Isaacs综合征，连续性肌纤维活动、运动单位持续活动综合征。现报告2例如下。     

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。     

Sunct syndrome: case report and literature review

The case of a woman with short neuralgiform paroxysmal attacks located in orbital-periorbital area and associated with autonomic features of ten years duration is reported. This headache syndrome is compared with trigeminal neuralgia involving the first branch of the nerve. Duration, intensity, spreading of the pain and presence of accompanying ipsilateral vasomotor phenomena may be of help in the differential diagnosis. According to the latest reports, sex distribution which passed from 17 men/2 women to 18/6 and effect of the carbamazepine on pain would not appear to have an effect. Nevertheless other reports are needed to distinguish these two clinical syndromes and to develop an etiological and pathogenesis hypothesis.     

Sneddon's syndrome. Case report and literature review

Diagnostic and therapeutic problems of Sneddon's syndrome are reviewed on the basis of the observation of a pregnant 36-year-old female. She had had Hodgkin's disease stage I, curatively treated when she was 23 years old. She developed cerebral ischemic events, initially ascribed to isolated cerebral angiitis, associated with progressive dermatological lesions (generalised livedo racemosa). A temporal artery biopsy did not reveal giant cell angiitis, while the cutaneous arterioles in a biopsy showed marked intimal proliferation without inflammatory cell infiltration. The literature on Sneddon's syndrome is reviewed.     

Andersen-Tawil 综合征1例报告并文献复习

目的探讨Andersen-Tawil综合征(ATS)的发病机制及临床特点。方法回顾性分析1例ATS患者的临床表型。结果本例患者男,17岁,表现为低位耳,反复发作运动、饱食或无明显诱因下非对称性肌无力,入院期间肌无力发作时伴血钾降低;动态ECG提示频发室性期前收缩;EMG检查显示复合肌肉动作电位波幅在运动诱发试验运动后即刻上升6%,30 min下降17%,60min下降25%,90min下降35%;头颅MRI Flair示左侧额顶叶交界区脑白质内点状高信号影;基因检测(NGS)提示染色体17q24的KCNJ2基因出现错义突变:c.224C>T(p.Thr75Met),诊断为ATS。予补钾治疗后患者肌力恢复正常,出院后继续服用醋钾唑胺片,随访发现患者周期性麻痹的发作频率、严重程度及持续时间明显改善。结论 ATS作为一个多系统累积的离子通道病,其临床表现高度变异,临床上要更加关注患者临床表型,从而有利于表型及机制的完善。     

Hoigne syndrome. Case report and current literature review

Hoigne's syndrome is currently considered a pseudoanaphylactic or pseudoallergic reaction following intramuscular and aqueous procaine penicillin administration. This disorder is characterized predominantly by neuropsychiatric alterations including severe psychomotor agitation with confusion, sensations of disintegration, depersonalization, and derealization, perceived changes of body shape, visual and auditory hallucinations, panic-like anxiety including fear of death as well as alterations of consciousness and seizures. Beside the "classic" immediate manifestation of Hoigne's syndrome, subacute forms as well as reactions of the so-called latent type are also known. Including a typical case report, we present a review of the currently available literature concerning clinical picture, hypotheses on origin, and possible therapy regimens of this underdiagnosed complication of antibiotic penicillin treatment.     

Traumatic atypical Brown-Sequard syndrome: case report and literature review

A man was kicked on the neck, 10 days after which he noted right-sided numbness. Clinically, he had diminished deep tendon reflexes over the left upper limb, absent left superficial abdominal reflexes, a left extensor plantar response, mild left hemiparesis, diminished pinprick, temperature and vibratory sensation up to the right T(4-5) dermatome and diminished proprioceptive sensation in the right upper and lower limbs. Cervicothoracic magnetic resonance imaging (MRI) revealed a left C(6-7) posterolateral disc prolapse with indentation and oedema of the cord at the same level. He was given intravenous dexamethasone, with mild resolution of his motor but not his sensory symptoms. Transcranial magnetic stimulation and evoked potentials performed 3 days later were unremarkable. He was discharged soon after, preferring to seek traditional therapy in his country. We attempt to explain the anatomical basis for his clinical signs, review the literature for similar cases, and examine the usefulness of available treatment and investigations.     

不宁腹综合征1 例报道及文献复习

不宁腿综合征,又称Willis-Ekbom疾病,是一种运动感觉障碍与引起入睡困难的节律性睡眠障碍疾病[1].不宁腿综合征的主要特点是夜间无法抑制的活动腿的冲动,有一种难以形容的肢体不适感,活动后缓解[2].在大多数情况下,不宁腿综合征在放松安静状态或睡眠期间也会有不自主、周期性肌肉抖动(PLMS).这些症状常出现在下肢,然而身体其他部分也可能受影响,可表现在上肢、背部、腹部、膀胱[3-6],故渐渐出现不宁腿综合征的变异型,但临床极为少见.国内尚未见到类似报道,现对1例不宁腹综合征的临床特点进行分析,报道如下.     

Morvan syndrome: a case report and review of the literature

Morvan syndrome is characterized by central, autonomic, and peripheral hyperactivity. Examples of central hyperactivity include confusion, memory problems, hallucinations, insomnia, and myoclonus; examples of autonomic hyperactivity include hyperhidrosis and fluctuations in blood pressure; examples of peripheral hyperreactivity include clinical or electrophysiological evidence of painful cramps, myokymia, and neuromyotonia. We present a typical case of Morvan syndrome and the first detailed review of the clinical and therapeutic literature of all 27 cases from the English language literature. Morvan syndrome is considered to be an autoimmune disorder and antibodies against voltage-gated potassium channels are found in most cases. Oral immunomodulatory therapy, intravenous immunoglobulin, and plasmapharesis may be entertained. Thymoma is found in approximately 50% of cases and thymectomy may be curative as in our particular case.     

Lewis-Sumner 综合征6例报告与文献复习

目的探讨Lewis-Sumner综合征(Lewis-Sumner syndrome,LSS)的临床特点,随访其治疗反应及预后。方法回顾性收集6例确诊的Lewis-Sumner综合征患者的临床资料,包括临床特点、实验室检查、颈腰椎核磁、病理和神经电生理学检查及治疗,对其中4例进行电话随访评估疗效及预后。结果 6例患者均表现为慢性感觉运动性神经病,症状体征累及多条孤立的周围神经,而非弥漫性手套、袜套样分布,颅神经可以受累;脑脊液蛋白正常或轻中度增高;颈腰椎核磁可见神经根、神经丛增粗,增强扫描有强化;病理学检查呈脱髓鞘改变特点,电生理学检查的显著特征为持续存在的运动神经传导阻滞;激素治疗均有不同程度改善。结论 LSS表现为慢性感觉运动性多发性单神经病,随病情进展症状体征趋于弥漫性分布,但仍有显著不对称性的特点,激素治疗有效。