肝豆状核变性误诊与治疗：（附60例报告）

肝豆状核变性(HLD)是常染色体隐性遗传病,若能早期发现及时治疗,症状可望改善。但本病误诊率很高,国内统计最长误诊达15年。我科自1985～1993年共诊治60例,早期误诊17例,误诊率为28.3％。 误诊病例:脑型误诊帕金森病,小舞蹈病,小脑性共济失调各2例。精神障碍型误诊精神分裂症5例,神经衰弱2例。肝型误诊肝硬化,肝炎各2例。 误诊原因分析:1.本病临床表现复杂多变,首发症状及临床表现不一。陈氏报告HLD92例,锥体外系症     

特发性甲状旁腺功能减退症1例报道及文献回顾分析

目的提高对以神经、精神障碍为临床表现的特发性甲状旁腺功能减退症(IPH)的认识。方法报道1例IPH误诊病例,结合对国内近20年发表的IPH及其误诊的相关文献进行回顾性分析。结果 1994年1月至2013年12月国内文献汇总:1IPH误诊率29.51%;2被误诊病种超过30种,其中癫占误诊病例总数的59.47%,其次为低钙血症及精神心理障碍;3误诊原因分析:医生对IPH临床特点认识不足(71.43%)、神经与精神症状突出(61.90%)和忽略对辅助检查结果的分析(57.14%)。结论 IPH常以神经、精神障碍为突出临床表现,易误诊;临床应提高对IPH的认识,重视高危人群筛选,降低误诊率。     

容易误诊漏诊的硬脑膜动静脉瘘9例分析

目的 提高对容易误诊漏诊的硬脑膜动静脉瘘(dural arteriovenous fistula,DAVF)的诊断水平.方法 回顾性总结9例DAVF的临床资料,结合文献进行分析.结果 9例主要临床表现及误诊情况分别为:视朦或视力下降4例,无颅内高压症状,误诊为视神经炎、颅内结核感染或特发性颅内压增高;记忆力下降1例,误诊为病毒性脑炎;双下肢无力1例,误诊为急性脊髓炎、神经鞘瘤;反复头痛1例,误诊为偏头痛、特发性颅内压增高;反复抽搐1例,误诊为正常颅内压脑积水;饮水呛咳、吞咽困难1例,误诊为脑梗死.3例满足于静脉窦血栓的诊断而忽略了DAVF.所有病例影像学均漏诊,但如仔细观察仍可发现细微的血管形态改变,提示动静脉畸形.结论 DAVF临床表现缺乏特异性,加上临床及放射科医师对本病认识不足,诊断思路狭窄,造成本病误诊、漏诊率高.     

神经梅毒临床误诊病例分析

目的分析神经梅毒误诊原因，提高诊断的准确率。方法回顾性分析2001年1月-2004年2月曾经在院外误诊的12例神经梅毒患者的临床资料及误诊原因。结果12例患者中2例脑膜血管梅毒者被误诊为动脉硬化性脑梗死，2例脑膜梅毒被误诊为结核性脑膜炎和动脉瘤，2例脊髓痨被误诊为多发性神经炎，6例全身麻痹性痴呆被误诊为阿尔茨海默病、血管性痴呆、慢性酒精中毒性脑病、急性病毒性脑炎、路易体痴呆和帕金森病合并痴呆。误诊原因主要为：临床问诊忽略了患者的冶游史以及患者和家属有意隐瞒病史；体格检查不全面和定位诊断错误；全身性神经梅毒的临床表现不典型；神经梅毒的临床表现复杂多样，临床医师对其认识不足，病因诊断时考虑不充分(误诊的最主要原因)。结论神经梅毒临床表现较为复杂，临床医师对此应有充分认识，对可疑病例应注重询问相关病史，认真进行全面体格检查及特异性的血清学、脑脊液检查，以提高对本病诊断的准确率。     

新型隐球菌脑膜炎50例临床分析

隐球性脑膜炎是由新型隐球菌引起的中枢神经系统的感染.早期容易误诊,晚期缺乏有效的治疗药物,患者治疗时间长,致残率、病死率很高.为提高对本病的认识,现把我院2000年以后收治50例患者的临床特点及治疗报道如下.     

肝豆状核变性120例分析

肝豆状核变性(HLD)是一种并不罕见的可治的常染色体隐性遗传病。如能早期发现并及时治疗,其效果较好,而误诊或晚期才治则预后极差。本文分析我院120例临床特征及误诊经验。 临床资料 一般资料 1976～1987年3月,我院住院HLD86例及1980～1987年3月我科HLD专科门诊34例共     

7例眼睑痉挛型Meige综合征临床误诊分析

目的 探讨眼睑痉挛型Meige综合征的临床特点、诊断、误诊原因及治疗.方法 对上海市第一人民医院神经内科收治的7例误诊的眼睑痉挛型Meige综合征患者的临床特点、误诊原因及治疗进行回顾性分析.结果 眼睑痉挛型Meige综合征典型表现为不自主闭眼,临床上易被误诊为重症肌无力、神经官能症、眼睑炎和干眼症等.误诊的原因主要是对本病认识不足.本组7例患者经治疗后症状均有明显改善.结论 眼睑痉挛型Meige综合征发病早期症状不典型,易误诊误治,要注意和其他疾病鉴别.     

Lambert-Eaton肌无力综合征的电生理诊断价值

Lambert-Eaton肌无力综合征(Lambert-Eaton Myasthenic Syndrome,LEMS)是神经系统副肿瘤综合征的一种类型,因临床原发肿瘤症状隐匿,故容易误诊误治.现对我院2009年1月～10月期间收治的5例LEMS患者的临床及电生理进行分析,以期提高对本病的认识及电生理检测在本病中的诊断价值.     

系统性红斑狼疮脑病27例报告（附1例尸检资料）

报告２７例系统性红斑狼疮脑病，占本院收容系统性红斑狼疮病人有神经精神损害人数的５６．２％。主要表现为癫痫发作，精神障碍，昏迷、偏瘫等。结合临床和尸检资料，对其病机、诊断、鉴别诊断及治疗进行讨论。指出凡遇有原因不明的神经精神障碍的中青年女性，应当想到本病。     

成人急性播散性脑脊髓炎误诊分析

目的 分析急性播散性脑脊髓炎(ADEM)的误诊原因,以提高对本病的认识.方法 对5例误诊为其他病的ADEM患者的临床表现、实验室检查、影像学表现、治疗与转归进行回顾性分析.结果 5例ADEM患者分别被误诊为急性吉兰-巴雷综合征、病毒性脑炎、急性脑梗死、脑囊虫、颅内多发转移瘤,经对其发病诱因、临床表现、实验室检查、影像学表现等进行综合分析后明确ADEM的诊断,予以激素和(或)丙种球蛋白治疗,临床症状均有不同程度好转.结论 ADEM临床表现多样,MRI检查有助于早期诊断,提高对本病的认识,有助于减少误诊.     

Epilepsy and anomalies of neuronal migration: MRI and clinical aspects

Neuronal migration disorders are the result of disturbed brain development. In such disorders, neurons are abnormally located. In diagnosing these conditions, magnetic resonance imaging is superior to any other imaging technique. This enables us to improve our knowledge of the clinical correlates of neuronal migration. With reference to migrational disorder, a retrospective study of all 303 patients with epileptic seizures referred for magnetic resonance imaging during a 3-year period was performed, 13 patients (aged 12-41, mean age 27) were identified. They represent 4.3% of the entire study group. Of the patients with known epilepsy, 6.7% and of the mentally retarded, 13.7% had migrational disorders. Four patients had schizencephaly as the dominant finding, one was classified as hemimegalencephaly, 2 had isolated heterotopias, and 6 had localized pachy- and/or poly-microgyria. The clinical pictures are complex. Ectopias of grey matter are recognised foci of epilepsy, but from an epileptological and a clinical viewpoint little attention has been given to these disorders. The present study shows that malmigration is not rare in epilepsy patients, especially not in the mentally retarded.     

Classification of methods in transcranial Electrical Stimulation (tES) and evolving strategy from historical approaches to contemporary innovations

Transcranial Electrical Stimulation (tES) encompasses all methods of non-invasive current application to the brain used in research and clinical practice. We present the first comprehensive and technical review, explaining the evolution of tES in both terminology and dosage over the past 100 years of research to present day. Current transcranial Pulsed Current Stimulation (tPCS) approaches such as Cranial Electrotherapy Stimulation (CES) descended from Electrosleep (ES) through Cranial Electro-stimulation Therapy (CET), Transcerebral Electrotherapy (TCET), and NeuroElectric Therapy (NET) while others like Transcutaneous Cranial Electrical Stimulation (TCES) descended from Electroanesthesia (EA) through Limoge, and Interferential Stimulation. Prior to a contemporary resurgence in interest, variations of transcranial Direct Current Stimulation were explored intermittently, including Polarizing current, Galvanic Vestibular Stimulation (GVS), and Transcranial Micropolarization. The development of these approaches alongside Electroconvulsive Therapy (ECT) and pharmacological developments are considered. Both the roots and unique features of contemporary approaches such as transcranial Alternating Current Stimulation (tACS) and transcranial Random Noise Stimulation (tRNS) are discussed. Trends and incremental developments in electrode montage and waveform spanning decades are presented leading to the present day. Commercial devices, seminal conferences, and regulatory decisions are noted. We conclude with six rules on how increasing medical and technological sophistication may now be leveraged for broader success and adoption of tES.     

Hepatic Considerations in the Use of Antiepileptic Drugs

Summary: Virtually all of the major antiepileptic drugs (AEDs) can cause hepatotoxicity, although fatal hepatic reactions are rare. The mechanisms, incidences, and risk profiles for such reactions differ from drug to drug. With carbamazepine and phenytoin, hepatotoxicity may be due to drug hypersensitivity. Although the profiles of patients at risk have not been well-defined for these two antiepileptic drugs, it would appear from reports in the literature that older adolescents and adults are at higher risk than children of developing serious or fatal hepatotoxicity. Once hepatotoxicity develops, mortality rates are 10–38% with phenytoin and 25% for carbamazepine. The risk profile for valproate fatal hepatotoxicity has been more clearly defined. Those at primary risk of fatal hepatic dysfunction are children under the age of 2 years who are receiving multiple anticonvulsants and also have significant medical problems in addition to severe epilepsy. The risk is considerably lower for patients over the age of 2 years on valproate monotherapy. In contrast to the risk profile with other AEDs, adults receiving valproate as monotherapy have the lowest risk of hepatotoxicity. Fatal hepatic dysfunction coincident with valproate may be the result of aberrant drug metabolism. Concomitant use of AEDs that induce microsomal P450 enzymes (e.g., phenytoin and phenobarbital) may enhance the production of a toxic metabolite, and hence the greater risk of hepatotoxicity with polypharmacy.     

Vascular Malformations and Epilepsy: Clinical Considerations and Basic Mechanisms

Summary: Vascular malformations (VMs) are associated with epilepsy. The natural history of the various VMs, clinical presentation, and tendency to provoke epilepsy determine treatment strategies. Investigations have probed the mechanisms of epileptogenesis associated with these lesions. Electrophysiologic changes are associated with epileptogenic cortex adjacent to VMs. Putative pathophysiologic mechanisms of epileptogenesis include neuronal cell loss, glial proliferation and abnormal glial physiology, altered neurotransmitter levels, free radical formation, and aberrant second messenger physiology.     

Neonatal Seizures: Problems in Diagnosis and Classification

Summary: The clinical identification of neonatal seizures is critical for the recognition of brain dysfunction; however, diagnosis is often difficult because of the poorly organized and varied nature of these behaviors. Current classification systems are limited in their ability to communicate motor, autonomic, and electroencephalo-graphic features of seizures precisely and to provide a basis for uniform effective diagnosis, therapy, and determination of prognosis. Recent investigations of neonates, utilizing bedside electroencephalographic/polygraphic/ video monitoring techniques, have provided the basis for improved diagnosis and classification of seizures in the newborn. These studies have demonstrated that not all clinical phenomena currently considered to be seizures require electrocortical epileptiform activity for their initiation or elaboration. In addition, the specific clinical character of the phenomena considered to be seizures, the clinical state of the infant, and the character of the EEG indicate the probable pathophysiological mechanisms involved and suggest probable etiologies, prognosis, and therapy. Similarities between animal models that demonstrate reflex physiology and neonates with motor automatisms and tonic posturing suggest that these clinical behaviors may not be epileptic in origin but, rather, primitive movements of progression and posture mediated by brainstem mechanisms. Although not all clinical behaviors currently considered to be neonatal seizures may have similar pathophysiological mechanisms, they are clinically significant because they all indicate brain dysfunction.     

Valproate Monotherapy in the Management of Generalized and Partial Seizures

Summary: For decades, therapeutic tradition has promoted the concept of polypharmacy in the management of epilepsy. In recent years, however, studies have shown that, for most patients, monotherapy can provide comparable or better seizure control than administration of multiple anticonvulsants, while diminishing the potential for adverse reactions, drug interactions, and poor compliance. Valproate is an important monotherapeutic agent that is highly effective in the control of idiopathic primary and secondarily generalized epilepsies, and partial seizures that do not generalize. Comparative studies have found that valproate is at least as effective as phenytoin and carbamazepine in the treatment of generalized and partial seizures. Given the similar efficacy, other factors such as pharmacokinetics and side effects may therefore determine anticonvulsant selection for monotherapy.     

Un nouveau cadre conceptuel de travail pour la psychiatrie

In an attempt to place psychiatric thinking and the training of future psychiatrists more centrally into the context of modern biology, the author outlines the beginnings of a new intellectual framework for psychiatry that derives from current biological thinking about the relationship of mind to brain. The purpose of this framework is twofold. First, it is designed to emphasize that the professional requirements for future psychiatrists will demand a greater knowledge of the structure and functioning of the brain than is currently available in most training programs. Second, it is designed to illustrate that the unique domain which psychiatry occupies within academic medicine, the analysis of the interaction between social and biological determinants of behavior, can best be studied by also having a full understanding of the biological components of behavior.     

Carbamazepine Efficacy and Utilization in Children

Summary: Carbamazepine is effective for preventing partial and generalized tonic-clonic seizures in children. Although absence epilepsies are more common in children than adults, an estimated 80% of children with epilepsy have seizure types or epilepsies that are potentially responsive to carbamazepine. The differential diagnosis of ictal staring is an especially important issue in children because absence and atypical absence seizures are more prevalent in children than adults. Age-related pharmacokinetic differences and drug interactions are major considerations in children. On average, children have higher clearance rates of carbamazepine, shorter half-lives, and higher ratios of carbamazepine-10, 11-epoxide to carbamazepine than adults. In addition, children with severe epilepsy are more likely to require multiple-drug therapy, which can lead to complex drug interactions. When carbamazepine is administered along with valproate, drug protein binding interactions can cause intermittent side effects.     

Special Pharmacokinetic Considerations in Children

Summary: Pediatric patients have greater degrees of pharmacokinetic variability and unpredictability than adults. This variability results from the effects of pharmacogenetics, age and growth, prior and current comedication, and disease. Newborns with seizures have the least predictable dosage requirements, and their needs change as drug-eliminating mechanisms mature in the neonatal period. Infants have the highest relative capacities to eliminate antiepileptics of any age group and require the largest relative doses. In addition to age-related trends, children demonstrate the same drug-specific, pharmacokinetic phenomena that adults do, including nonlinear phenytoin elimination, nonlinear valproate binding, and autoinduction of carbamazepine. Intercurrent illness and drug interactions further modify the age-related pharmacokinetic patterns in children and make dosage requirements even more unpredictable. Recent studies have shown that febrile illness can affect drug elimination, sometimes decreasing drug levels by 50% or more. Intermittent treatment with benzodiazepines administered either orally or rectally can be an important adjunct and help minimize this type of problem for children with marginally controlled epilepsy. Intermittent benzodiazepines are also helpful for children who have febrile seizures and who need only occasional antiepileptic protection.