原发全身性癫痫遗传流行病学研究

本文报道１００例原发全身性癫痫家系的遗传流行病学研究结果。先证者一级亲属患病率为６．８６％，二级亲属为１．０３％；分别是对照组一级亲属的１３．８３倍和２．０８倍。原发全身性癫痫的遗传度为：一级亲属０．７５２１±０．０６７８，二级亲属０．３５９２±０．０７４６；加权平均０．５７４３±０．０５０２。说明遗传因素起重要作用。发病年龄影响因素分析表明：原发全身性癫痫有一定年龄依从性。ＥＥＧ家系分析显示，该型癫痫一级亲属癫痫样放电明显高于对照组一级亲属，提示癫痫样放电的遗传倾向。     

颅内神经节细胞胶质瘤(附8例报告)

目的探讨颅内神经节细胞胶质瘤的临床特征及治疗效果。方法回顾性分析8例颅内神经节细胞胶质瘤的临床资料。结果平均发病年龄27岁,肿瘤位于大脑半球6例,脑干2例。临床表现主要为癫,影像学检查无特异性表现。显微手术全切5例,大部切除3例,放、化疗4例。随访3个月～5年,7例症状明显缓解,1例复发。结论神经节细胞胶质瘤呈相对良性过程,癫为其主要临床表现,治疗上应手术全切;对有术后残留或间变者可给予放、化疗,预后相对良好。     

Computed tomographic changes of the brain and clinical outcome of patients with seizures and epilepsy after an ischaemic hemispheric stroke.

It is not well established whether seizures and epilepsy after an ischaemic stroke increase the disability of patients. Seventy-two patients with delayed seizures after a hemispheric infarct (37 with a single seizure and 35 with epilepsy) were included in the study. The modified Rankin scale was used to compare disability of the patients at 1 month after stroke and at 2 weeks after single or the last seizure, in case of epilepsy. The size of the X-ray hypoattenuation zone was compared on computed tomographic (CT) scans, performed in the weeks after the stroke and 1 week after single or repeated seizures. Lesion size was determined by superimposing the CT slices on digital cerebral vascular maps, on which the contours of the infarct area were delineated. The extent of the infarcts was expressed as the percentage fraction of the total surface area of the cerebral hemisphere. Groups with a single seizure and with epilepsy were mutually compared. Infarcts predominated in the parieto-temporal cortical regions. In the overall group the median Rankin score worsened significantly after seizures. The average size of the X-ray hypoattenuation zone was also significantly increased on the CT scans after the seizures, compared with those after stroke, without clear evidence of recent infarction. Mutual comparison of patients with a single seizure episode and of those with epilepsy showed only a trend of more severe disability and of increase in lesion size in the post-stroke epilepsy group. Delayed seizures and epilepsy after ischaemic stroke are accompanied by an increase in lesion size on CT and by worsening of the disability of the patients. This study does not allow to determine whether this is due to stroke recurrence or due to additional damage as a result of the seizures themselves.     

外伤后癫痫大鼠模型脑内铁蛋白与转铁蛋白含量的动态变化研究

目的:从脑内铁代谢的角度研究铁在外伤后癫(PTE)发病机制中的可能作用。方法:用ELISA方法检测PTE大鼠模型脑组织内铁蛋白(Ft)和转铁蛋白(Tf)的动态含量。结果:早期Ft在整个脑组织内呈现为即刻反应性升高,15d后其含量在实验对侧脑组织内恢复至正常范围,而在实验侧脑组织内呈现继续升高的趋势;Tf含量只在实验侧脑组织内升高,且呈现随时间继续升高趋势。结论:PTE大鼠模型中的铁代谢过程十分复杂,相关蛋白尤其是Tf含量的增加提示铁可能是外伤后癫灶形成机制的一部分。     

Treatment of Status Epilepticus in Adults: Guidelines of the Italian League Against Epilepsy

Summary:  Status epilepticus (SE) is a medical emergency which can lead to significant morbidity and mortality and requires prompt diagnosis and treatment. SE is differentiated into generalized or partial SE on the basis of its electro-clinical manifestations. The guidelines for the management of SE produced by the Italian League against Epilepsy also distinguish three different stages of SE (initial, established and refractory), based on time elapsed since the onset of the condition and responsiveness to previously administered drugs. Treatment should be started as soon as possible, particularly in generalized convulsive SE, and should include general support measures, drugs to suppress epileptic activity and, whenever possible, treatments aimed at relieving the underlying (causative) condition. Benzodiazepines are the first line antiepileptic agents, and i.v. lorazepam is generally preferred because it is associated with a lower risk of early relapses. If benzodiazepines fail to control seizures, i.v. phenytoin is usually indicated, though i.v. phenobarbital or i.v. valproate may also be considered. Refractory SE requires admission to an intensive care unit (ICU) to allow adequate monitoring and support of respiratory, metabolic and hemodynamic functions and cerebral electrical activity. In refractory SE, general anesthesia may be required. Propofol and thiopental represent first line agents in this setting, after careful assessment of potential risks and benefits.     

Epileptic seizures,arthrogryposis, and migrational brain disorders: a syndrome?

Introduction – Arthrogryposis multiplex congenita (AMC) may be associated with multiple developmental defects. In some severely affected newborns with AMC, autopsy studies have suggested a common mechanism of malmigration at the spinal and cerebral levels. To our knowledge, a constellation of arthrogryposis, epileptic seizures, and brain migrational anomalies in adult patients has not previously been described in a clinical material. Material and methods – Six consecutive adult patients with arthrogryposis multiplex congenita and epileptic seizures form the basis of the present study. Five patients had joint contractures and reduced muscle volume restricted to the lower extremities, whereas one patient had predominantly upper extremity affection. They were studied with magnetic resonance imaging (MRI), EEG, EMG, a neuropsychological test battery, and chromosome analysis. Results – Four of them had clear evidence of migrational brain disorders, demonstrated by MRI, in three of them roughly corresponding to the focal epileptiform EEG activity. Five of the patients had partial seizures, whereas one only had generalized tonic-clonic seizures. The MRI findings included polymicrogyria, pachygyria, and fused schizencephaly. Four had neurogenic EMG changes, one had myopathic EMG features, and one had an unremarkable EMG pattern in affected muscles. All patients witL demonstrable migrational disorders showed abnormal neuropsychological features. Three patients were mentally retarded. A chromosome abnormality in the form of a ring chromosome 18 was present in one patient. Conclusion – We suggest that AMC, epileptic seizures, and migrational brain disorders may form the integral parts of a hitherto undescribed syndrome in adults. A wide-spread defect in neuronal migration along the entire neural axis may be the underlying mechanism of the cerebral and the peripheral symptoms.     

Molecular Pharmacology of Topiramate: Managing Seizures and Preventing Migraine

Topiramate is a neuromodulatory compound with stabilizing properties that was initially introduced for the management of partial seizures. Topiramate has been demonstrated to modify several receptor-gated and voltage-sensitive ion channels, including voltage-activated Na⁺ and Ca²⁺ channels and non-NMDA receptors. These receptors have been implicated in the pathophysiology of both epilepsy and migraine. The pharmacological mechanisms of action for topiramate that may explain its antiepileptic and migraine preventive activities will be discussed in this review. In addition, the potential relationship between the molecular activities of topiramate and its efficacy in epilepsy and migraine prevention will be emphasized.     

Effects of dextropropoxyphene on the steady-state kinetics of oxcarbazepine and its metabolites

The effects of dextropropoxyphene on the steady-state kinetics of oxcarbazepine and its metabolites were investigated in eight patients with epilepsy or trigeminal neuralgia. One patient dropped out of the study, presumably due to side-effects of dextropropoxyphene. Dextropropoxyphene did not affect the plasma levels of the principal active metabolite, 10,11-dihydro-10-hydroxy-carbamazepine. Since dextropropoxyphene is known to increase the plasma levels of carbamazepine, leading to toxicity, the findings of this study suggest that oxcarbazepine is a useful alternative to carbamazepine when concomitant dextropropoxyphene therapy is required.     

Hemimegalencephaly: clinical implications and surgical treatment

Introduction Hemimegalencephaly (HME) is a quite rare malformation of the cortical development arising from an abnormal proliferation of anomalous neuronal and glial cells that generally leads to the hypertrophy of the whole affected cerebral hemisphere. The pathogenesis of such a complex malformation is still unknown even though several hypotheses are reported in literature.Background HME can occur alone or associated with neurocutaneous disorders, such as neurofibromatosis, epidermal nevus syndrome, Ito’s hypomelanosis, and Klippel–Trenonay–Weber syndrome. The clinical picture is usually dominated by a severe and drug-resistant epilepsy. Other common findings are represented by macrocrania, mean/severe mental retardation, unilateral motor deficit, and hemianopia. The EEG shows different abnormal patterns, mainly characterized by suppression burst and/or hemihypsarrhythmia. Although neuroimaging and histologic investigations often show typical findings (enlarged hemisphere, malformed ventricular system, alteration of the normal gyration), the differential diagnosis with other disorders of the neuronal and glial proliferation may be difficult to obtain. Hemispherectomy/hemispherotomy is the most effective treatment to control seizure, and it also seems to provide good results on the psychomotor development when performed early, as demonstrated by the literature review and by the reported personal series reported here (20 children). The surgical therapy of HME, however, is still burdened by a quite high complication rate and mortality risk.