脂质沉积性肌病临床病理特征及疗效分析

目的 探讨脂质沉积性肌病(LSM)的临床表现、病理特征及治疗反应。方法 回顾性分析22例脂质沉积性肌病患者的临床资料和预后随访。结果 患者主要临床特点均为四肢近端肌无力和运动不耐受; 20例血清肌酶不同程度升高; 18例肌电图呈肌源性损害; 22例肌肉病理显示肌纤维内脂滴增多。20例患者有治疗后的随访资料,其中小剂量泼尼松治疗19例,核黄素(维生素B2)治疗18例,左卡尼丁治疗6例,全部患者1个月内肌无力症状均获明显改善,经3个月治疗后,18/22例治愈,2例出现复发,重复治疗仍有效。结论 LSM是可治愈性疾病,建议避免发热、劳累等诱因,无基因测定的条件下,可经验性用核黄素、左卡尼丁和泼尼松治疗,有基因测定条件,应根据基因突变进行针对性治疗。     

脂质沉积性肌病30例临床资料分析

目的总结脂质沉积性肌病(LSM)的临床特点。方法总结30例LSM患者的临床资料并复习文献。结果LSM是脂肪酸代谢异常所致,90.0%以上患者有发作性近端肌无力,不耐受疲劳;73.3%有眼肌、颈肌受累;46.7%有消化道症状。60.0%～86.7%的患者肌酶升高;83.3%有肌电图异常,其中77.0%为肌源性损害;93.1%有脂质沉积;可有血浆肉毒碱降低。泼尼松或能量支持治疗有效率为95.2%。结论LSM是肌无力原因之一,可多系统受累或与其他代谢异常共存,多数预后较好。     

中国人核黄素反应性脂质沉积性肌病多是由 ETFDH基因突变所致

通过对一组中国脂质沉积性肌病(lipid storage myopathy,LSM)患者的研究来探讨该病的遗传代谢特征及其分子病理机制,这些LSM患者单用核黄素(维生素B2)治疗后肌无力症状明显改善(即核黄素反应性LSM).该论文于2009年9月15日由Journal of Neurology,Neurosurgery,and Psychiatry在线出版,并于2010年发表于该杂志上[1].     

核黄素反应性脂质沉积性肌病两家系临床分析

目的探讨由ETFDH基因突变引起的核黄素反应性脂质沉积性肌病(Lipid storage myopathy,LSM)的临床特点以及核黄素的治疗效果。方法通过肌肉磁共振(MRI)、肌肉活检及基因检测确诊两家系3例LSM患者,并评估给予核黄素治疗前后患者运动症状的变化。结果 2例左侧三角肌肌肉MRI与肌肉活检提示肌肉脂质沉积,基因检测揭示1例存在ETFDH基因c.1395dupT(p.G466Wfs*24)和c.770AG(p.Y257C)复合杂合突变,2例存在ETFDH基因c.770AG(p.Y257C)纯合突变,3例经核黄素治疗1个月后运动症状均得到显著改善。结论对于无明显诱因引起的双下肢无力患者,可通过肌肉活检和基因检测进行确诊,且核黄素能够有效改善运动症状。     

脑干海绵状血管瘤手术治疗13例临床分析

目的 探讨脑干海绵状血管瘤的手术方法、技巧和效果.方法 回顾性分析13例脑干海绵状血管瘤患者的临床表现、手术方式、治疗效果及随访资料.结果 全部病灶均于显微镜下全切,术中运用神经电生理监测,无手术死亡.术后病理学检查证实海绵状血管瘤.8例患者术后神经功能障碍得到改善,2例无变化,3例症状加重.术后随访6-24个月,13例患者复查均无复发,其中8例恢复正常生活,2例生活基本自理,3例偏瘫.结论 脑干海绵状血管瘤采用显微外科技术切除,效果良好.     

Pipeline血流导向装置治疗复发颅内动脉瘤的临床效果分析

目的探讨Pipeline血流导向装置(PED)治疗复发颅内动脉瘤的疗效。方法回顾性分析2016年1月至2019年4月于首都医科大学附属北京天坛医院神经介入中心采用PED治疗的14例复发颅内动脉瘤患者的临床资料。14例患者中,仅行PED治疗10例,PED联合弹簧圈治疗4例。所有患者均行临床随访,采用改良Rankin量表评分(mRS)评估患者的预后;行影像学随访[数字减影血管造影(DSA)]评估颅内动脉瘤的栓塞情况。结果14例患者共成功置入15枚PED。所有PED均到位良好。术后即刻DSA检查显示动脉瘤内血流滞留,载瘤动脉的分支血管均通畅;Dyna CT检查显示支架均准确覆盖瘤颈,贴壁良好。术后2例患者出现手术并发症,其中1例为脑梗死,经抗血小板聚集等对症治疗后症状改善;另1例发生中脑出血后死亡。除死亡患者外,余13例患者均获临床随访,中位随访时间为26个月(范围为12~48个月),无一例发生脑出血或脑梗死,无新发神经功能缺损症状,末次随访mRS均为0分。11例患者行影像学随访,中位随访时间为6个月(范围为3~16个月),其中完全栓塞8例(包括1例单纯弹簧圈栓塞术后复发、3例开颅夹闭术后复发、3例支架辅助弹簧圈栓塞术后复发以及1例单纯支架置入术后复发的患者),瘤颈残余2例(均为支架辅助弹簧圈栓塞术后复发的患者),瘤体部分显影1例(为支架辅助弹簧圈栓塞术后复发的患者)。结论应用PED进行再治疗的单纯弹簧圈栓塞或开颅夹闭术后复发的动脉瘤患者预后良好,而PED治疗曾行支架置入术的复发动脉瘤的效果仍需进一步验证。     

显微神经外科手术治疗原发性三叉神经痛的远期疗效

目的探讨显微手术治疗原发性三叉神经痛患者的远期疗效。方法回顾性分析2006年1月至2011年10月手术治疗的40例原发性三叉神经痛患者的临床资料。术后1年根据疼痛症状缓解程度及并发症发生情况进行评价手术远期疗效。结果全部病例均得到1年以上随访，疼痛完全缓解且无并发症28例，疼痛完全缓解伴能耐受的并发症8例，疼痛不完全缓解但无并发症2例，疼痛不完全缓解伴轻度并发症1例，疼痛不完全缓解伴重度并发症1例。其中行微血管减压术的患者32例中，术后疼痛均立即消失，随访期间有2例复发。行三叉神经感觉根部分切断术者8例，术后患者疼痛均消失，随访期间无复发，出现轻度面瘫及一侧舌麻木感患者共有6例，并发严重肺部感染导致呼吸功能衰竭的患者1例。结论影响显微手术治疗原发性三叉神经痛远期疗效因素是多方面的，显微手术治疗原发性三叉神经痛效果良好；根据症状缓解程度和并发症评价手术疗效是一种很好的评估方法。     

复发性抗富亮氨酸胶质瘤失活1蛋白脑炎临床分析

目的分析复发性抗富亮氨酸胶质瘤失活1蛋白(LGI1)脑炎的临床特点、诊断、治疗及预后情况。方法收集郑州大学第一附属医院2015-01—2019-01确诊抗LGI1脑炎患者,回顾性分析复发患者临床表现、实验室及影像检查、治疗及预后。结果 37例抗LGI1脑炎确诊患者中,13例复发,6例有多次复发。4例复发期出现新的症状,9例复发症状为首次发病症状的再次出现。认知功能下降、癫痫、精神症状及自主神经症状为复发患者首次发病和复发常见症状。13例复发患者有10例接受序惯口服激素治疗,第1次复发前口服激素平均时间为2.25个月。13例患者死亡6例。10例患者首次复发重启免疫治疗。预后良好(mRS≤2分)患者复发至重启免疫治疗平均时间2.6 d,预后差患者33.5 d。结论抗LGI1脑炎复发比较常见,患者复发症状多为首次发病症状的再次出现。及时重启免疫治疗的复发患者,预后良好。     

核黄素反应性脂质沉积性肌病二例

目的探讨核黄素反应性脂质沉积性肌病(LSM)的临床、病理及基因突变特征。方法分析两例核黄素反应性LSM患者的临床资料。结果本组两例患者表现为慢性起病的四肢和躯干肌无力,不能耐受疲劳,例2累及吞咽功能,例1累及咀嚼功能。两例肌肉活检发现肌纤维内大量脂肪沉积,未见肌纤维坏死和再生,改良Gomori三色染色、琥珀酸脱氢酶染色未发现线粒体酶活性缺失。两例患者均有2个以上位点突变,有明确临床意义的突变均为ETFDH外显子改变,应用核黄素治疗后两例明显好转。结论本病多累及躯干和四肢肌,表现为肌无力和疲劳不耐受;病理特征为肌肉脂肪沉积,基因突变多为ETFDH改变。核黄素单一治疗对本病有显著疗效。     

自发性低颅压综合征23例患者临床特点、影像学表现、预后及随访观察

目的探讨自发性低颅压综合征(SIH)患者的发病机制、临床特点、影像学表现和预后转归。方法回顾性分析中国医科大学附属盛京医院2012至2018年收治的23例SIH患者的临床表现及影像学特点,进行了历时3年的随访了解其预后和转归。结果所有SIH患者均表现为体位性头痛。16例患者脑脊液压力≤60 mmH_2O,6例脑脊液量少无法测量压力,1例脑脊液压力为80 mmH_2O。经头颅MRI平扫及增强检查,有13例患者影像学检查提示异常,包括硬脑膜增厚强化、硬膜下积液、颅内静脉窦增宽、小脑扁桃体下移、垂体饱满。所有患者经保守对症治疗后症状好转。每间隔1年对患者进行电话随访,共随访3年,其中9例患者失访,1例患者复发,余13例预后良好未复发。结论 SIH诊断应结合其临床症状、腰穿脑脊液压力检测结果和影像学异常表现,避免误诊延误治疗时机,多数患者预后良好。     

Diagnostic Difficulties and Treatment Implications

Summary: Differentiation between types of epileptic seizures has been aided in recent years by the introduction of intensive neurodiagnostic techniques and the development of increasingly detailed classification systems. Paradoxically, these developments have not simplified the task of matching the appropriate antiepileptic drug to a particular seizure type. It is reasonable to assume that anticonvulsant drugs will have different effects on different types of seizures, but faulty, circular reasoning can enter the picture if one also assumes that responses of seizures to different drugs signify different seizure types. There are several examples of differential diagnoses that can fall prey to this problem, including the diagnosis between partial seizures with secondary generalization and generalized tonic-clonic seizures, and the diagnosis between complex partial seizures and absence seizures with automatisms, among others. Considerations of etiology in future classification systems can further complicate the problem: should one then choose an anticonvulsant drug on the basis of individual seizure type or on the basis of the type of epilepsy? Ramifications of this issue extend even to the drug approval process. Official sanction is not given for use of a drug for a seizure type not included in the original efficacy studies, even if later scientific evidence shows that seizure type to be related to a type that is included. New trials must be undertaken. These problems arise from how we choose to classify seizures.     

Cognitive Dysfunction Associated with Antiepileptic Drug Therapy

Summary: Epilepsy is frequently associated with cognitive dysfunction. However, the reasons for this correlation are unclear. Possible influential factors include patient age; duration, frequency, etiology, and type of seizures; hereditary factors; psychosocial issues; and antiepileptic drug (AED) therapy. Whereas many of these factors are beyond the physician's control, AED therapy is one element that can be addressed in treatment decisions by recognizing the potential cognitive effects of particular AEDs. For example, phenobarbital impairs memory and concentration; phenytoin affects attention, problem solving ability, and performance of visuomotor tasks. In contrast, carbamazepine may affect concentration, while valproate would appear to have minimal effects on cognition. Moreover, cognitive effects of AEDs are amplified with coadministration of multiple anticonvulsants (polytherapy). A review of studies on the cognitive effects of monotherapy with AEDs, as opposed to those of polytherapy, provides evidence that drug-related cognitive dysfunction can be reversed if patients are switched to a simpler therapeutic regimen. Future research should be directed toward developing reliable measures for assessing and monitoring cognition, and understanding the particular cognitive side effects of each AED. Physicians also need to revise their opinions about which side effects are "tolerable" for epileptic patients.     

Carbamazepine Efficacy in Adults With Partial and Generalized Tonic-Clonic Seizures

Summary: Carbamazepine and phenytoin are drugs of choice in initial monotherapy for adult partial and secondarily generalized tonic-clonic seizures. These designations reflect the results of the Veterans Administration Epilepsy Cooperative Study Group of 1985. An earlier comparative study of carbamazepine and phenytoin by Ramsay and associates found both drugs equally effective in controlling new-onset seizures. Among the advantages of carbamazepine is that it causes relatively few cognitive and dysmorphic side effects. Its disadvantages are its unavailability in parenteral formulation and its metabolic autoinduction. The latter must be compensated for by planned dosage increases to maintain therapeutic plasma steady-state levels during the first 2 or 3 months of treatment. Carbamazepine is judged a drug of choice in the treatment of these secondarily generalized tonic-clonic seizures, and the drug of choice in children, adolescents, and women susceptible to the dysmorphic side effects associated with other anticonvulsant agents.     

Etiologic and Preventive Aspects of Epilepsy in the Child–Bridging the Gap Between Laboratory and Clinic

Summary: Four broad categories of basic phenomena are pertinent to developing ways to prevent epilepsy. These include mechanisms of epileptogenesis, ictal initiation and temporary entrainment by the seizure discharge of normally functioning brain, seizure propagation, and control mechanisms that function both to restrain the cascade of epileptic events culminating in a seizure and to arrest the epileptic event and restore the interictal state. In newborns and children, hypoxia-ischemia is a major factor leading to epileptogenesis, and several schemes are proposed to classify, quantify, and prevent hypoxic-ischemic encephalopathy. Control mechanisms must be better understood in order to develop prophylactic recommendations for epilepsy, and an experimental model of "kindling antagonism" may increase our understanding of these. Programs of prevention of seizures in children will evolve only if basic researchers and clinicians work productively together to develop an adequate understanding of factors important in epileptogenesis and antiepileptogenic control mechanisms.     

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.     

Predisposing and Causative Factors in Childhood Epilepsy

Summary: We review information from large studies of defined populations, examining the role of known factors and especially of prenatal and perinatal factors in contributing to nonfebrile seizure disorders of early childhood. We depend especially, but not exclusively, on the recently completed analyses from the Collaborative Perinatal Project of the National Institute of Neurological and Communicative Disorders and Stroke, the NCPP. About 4% of children in the NCPP who had at least one non-febrile nonsymptomatic seizure by the age of 7 years had a previous seizure during acute neurologic illness, such as meningitis or during the acute illness after trauma. Many such seizures should potentially be preventable. Of children with seizures, 10% had had a neonatal seizure and 13% had had a febrile seizure. Among the hundreds of prenatal and perinatal factors explored as predictors of childhood seizure disorders, the principal predictors identified were congenital malformations of the fetus, cerebral and noncerebral; family history of certain neurologic disorders; and neonatal seizures. In agreement with the British National Child Development Study, labor and delivery factors in the NCPP appeared to contribute very little to childhood seizure disorders. Maldevelopment, rather than damage at birth to an initially intact nervous system, appeared to be the more common mechanism. Most seizure disorders of early childhood remained unexplained by the large set of prenatal and perinatal characteristics examined.     

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.     

Treatment Considerations in Anticonvulsant Monotherapy

Summary: The long-standing practice of polypharmacy in treating epilepsy is giving way to use of monotherapy. Monotherapy can improve seizure control as well as reduce the risk of serious idiosyncratic reactions, dose-related side effects, and complex drug interactions. Monotherapy also offers improved compliance and cost-effectiveness. The basis of monotherapy is accurate diagnosis and assessment of the patient's seizure type(s), followed by selection of a single appropriate anticonvulsant drug. Many patients currently treated with multiple anticonvulsants can be successfully converted to monotherapy with a carefully monitored program in which troublesome and redundant drugs are gradually withdrawn from the therapeutic regimen.     

Anticonvulsant Drugs and Cognitive Function: A Review of the Literature

Summary: Alterations of cognitive function are separate from disturbances of behavior seen in association with epilepsy. The nature of the cognitive disability may to a certain extent depend on the seizure type. Partial seizures, mainly derived from a temporal lobe focus, impair memory tasks, while generalized seizures seem to have more effect on attentional abilities. A number of studies, reviewed in this paper, suggest that anticonvulsant drugs further impair cognitive function. Maximal impairments are seen in patients receiving polytherapy: rationalization of polytherapy improves cognitive abilities. Studies in children and adults have allowed differentiation of the effects of various commonly used antiepileptic agents. Maximal cognitive deficits are seen with. phenytoin, while phenobarbital and sodium valproate induce moderate disturbances, and carbamazepine seems relatively free from such toxicity. Further research is needed on the interrelationship between types of seizure disorders, types of anticonvulsant medications, and cognitive function.     

Effects of NMD A- and AMPA-Receptor Antagonists on Different Forms of Epileptiform Activity in Rat Temporal Cortex Slices

Summary: Lowering extracellular magnesium induces different patterns of epileptiform activity in rat hippocampus and entorhinal cortex. Short recurrent epileptiform discharges in the hippocampus are stable over time, whereas seizurelike events (SLEs) in the entorhinal cortex, the subiculum, and the neighboring neocortex develop into late recurrent discharges which are not blocked by clinically employed antiepileptic drugs. We tested the sensitivity of the different epileptiform discharge patterns to. /V-methyl-D-aspartate (NMDA)- and non-NMDA-receptor antagonists. As NMDA-receptor antagonist we used dextrorphan, ket-amine, and 2-aminophosphonovalerate (2APV); as α-amino-3-hydroxy-5-methyl-4-isoxazole-propionic acid (AMPA)-receptor antagonist we employed the quinoxaline derivative glutamate 6-cyano-7-nitroquinoxaline-2,3-dione (CNQX). The findings show that the different patterns of epileptiform activity, including the late recurrent discharges, are sensitive to all NMDA-receptor antagonists. However, when dextrorphan was employed to suppress seizure-like events, later recurrent discharges did not develop during the remaining time course of the experiment. CNQX reversibly suppressed recurrent discharges in the hippocampus and SLEs in the entorhinal cortex. However, late recurrent discharges become insensitive to CNQX, even at a high concentration of 60 μM m. This finding suggests a prominent role for NMDA receptors in the generation of late recurrent discharges.