皮质发育畸形(malformation of cortical development,MCD)是导致儿童智力运动发育障碍和难治性癫痫的重要原因。不论是从胚胎发育过程、基因调控异常或组织结构特征的维度,MCD的分类都非常复杂。现主要根据Barkovich的MCD分类更新版进...皮质发育畸形(malformation of cortical development,MCD)是导致儿童智力运动发育障碍和难治性癫痫的重要原因。不论是从胚胎发育过程、基因调控异常或组织结构特征的维度,MCD的分类都非常复杂。现主要根据Barkovich的MCD分类更新版进行介绍,限于篇幅,仅介绍其粗略框架。此框架有助于临床对各种类型MCD的理解,寻找其遗传学病因,并对某些可治疗的MCD伴难治性癫痫选择适当的外科治疗。展开更多
Background: Salivatory seizures are a singularly rare condition, which can occur both in idiopathic and symptomatic epilepsies. Objectives: To describe and discuss the case of an adolescent patient with sleep-trigger...Background: Salivatory seizures are a singularly rare condition, which can occur both in idiopathic and symptomatic epilepsies. Objectives: To describe and discuss the case of an adolescent patient with sleep-triggered “pure” salivatory seizures associated with a subtle cortical malformation of the right parietal cortex. Case report: Herein, we report a 17-year-old female who started to present salivatory paroxysms, which occasionally secondarily generalized, shortly after falling asleep, at the age of eight years. Video-electroencephalographic monitoring with scalp electrodes failed to show any epileptiform activity during the several recorded clinical events. Brain MRI and curvilinear reconstruction revealed, in the three orthogonal planes, a subtle cortical thickening, limited to a single gyrus in the right parietal cortex, suggestive of a focal cortical malformation. After antiepileptic drug therapy was optimized, the patient became seizure-free. Conclusion: An epilepsy diagnosis should be pursued in patients presenting isolated, paroxysmal hypersalivation, despite possible negative scalp EEG studies.展开更多
目的探讨难治性癫痫病例相关的临床病理学特征。方法按照2011年International League Against Epilepsy（ILAE）分类标准对2008年6月至2012年12月在首都医科大学三博脑科医院功能神经外科接受致痫灶手术的822例患者标本进行病理学特征...目的探讨难治性癫痫病例相关的临床病理学特征。方法按照2011年International League Against Epilepsy（ILAE）分类标准对2008年6月至2012年12月在首都医科大学三博脑科医院功能神经外科接受致痫灶手术的822例患者标本进行病理学特征回顾分析。结果822例患者平均发病年龄9．9岁，平均病程11．9年。癫痫发作形式以复杂部分性发作为主；病理组织学发现轻微皮层发育不良33例（4．01％）、局灶性皮层发育不良（FCD）690例（83．94％）及其他99例（单纯海马硬化39例、囊肿20例、Sturge—Weber综合征19例、结节硬化8例、无显著病理变化6例、脑回畸形5例、错构瘤2例）。FCD中，Ⅰ型106例，Ⅱ型91例，Ⅲ型493例（111a型160例、11Ib型106例、Ⅲc型26例、Ⅲd型201例）。结论FCDIIId型是引起难治性癫痫最多的病理类型，其最主要病因是由于围产期缺氧／缺血导致局部脑组织瘢痕形成；其次是单纯FCD（I型和Ⅱ型）；FCDⅢa型和FCDⅢb型分别位居其后。将单纯FCD与FCDⅢ型分开，并将FCDⅢ型进一步细分，更好地定义了大脑皮层分层紊乱，更加清晰直观地反映出难治性癫痫的致病因素，为进一步诊疗提供参考。展开更多
文摘皮质发育畸形(malformation of cortical development,MCD)是导致儿童智力运动发育障碍和难治性癫痫的重要原因。不论是从胚胎发育过程、基因调控异常或组织结构特征的维度,MCD的分类都非常复杂。现主要根据Barkovich的MCD分类更新版进行介绍,限于篇幅,仅介绍其粗略框架。此框架有助于临床对各种类型MCD的理解,寻找其遗传学病因,并对某些可治疗的MCD伴难治性癫痫选择适当的外科治疗。
文摘Background: Salivatory seizures are a singularly rare condition, which can occur both in idiopathic and symptomatic epilepsies. Objectives: To describe and discuss the case of an adolescent patient with sleep-triggered “pure” salivatory seizures associated with a subtle cortical malformation of the right parietal cortex. Case report: Herein, we report a 17-year-old female who started to present salivatory paroxysms, which occasionally secondarily generalized, shortly after falling asleep, at the age of eight years. Video-electroencephalographic monitoring with scalp electrodes failed to show any epileptiform activity during the several recorded clinical events. Brain MRI and curvilinear reconstruction revealed, in the three orthogonal planes, a subtle cortical thickening, limited to a single gyrus in the right parietal cortex, suggestive of a focal cortical malformation. After antiepileptic drug therapy was optimized, the patient became seizure-free. Conclusion: An epilepsy diagnosis should be pursued in patients presenting isolated, paroxysmal hypersalivation, despite possible negative scalp EEG studies.
文摘目的探讨难治性癫痫病例相关的临床病理学特征。方法按照2011年International League Against Epilepsy（ILAE）分类标准对2008年6月至2012年12月在首都医科大学三博脑科医院功能神经外科接受致痫灶手术的822例患者标本进行病理学特征回顾分析。结果822例患者平均发病年龄9．9岁，平均病程11．9年。癫痫发作形式以复杂部分性发作为主；病理组织学发现轻微皮层发育不良33例（4．01％）、局灶性皮层发育不良（FCD）690例（83．94％）及其他99例（单纯海马硬化39例、囊肿20例、Sturge—Weber综合征19例、结节硬化8例、无显著病理变化6例、脑回畸形5例、错构瘤2例）。FCD中，Ⅰ型106例，Ⅱ型91例，Ⅲ型493例（111a型160例、11Ib型106例、Ⅲc型26例、Ⅲd型201例）。结论FCDIIId型是引起难治性癫痫最多的病理类型，其最主要病因是由于围产期缺氧／缺血导致局部脑组织瘢痕形成；其次是单纯FCD（I型和Ⅱ型）；FCDⅢa型和FCDⅢb型分别位居其后。将单纯FCD与FCDⅢ型分开，并将FCDⅢ型进一步细分，更好地定义了大脑皮层分层紊乱，更加清晰直观地反映出难治性癫痫的致病因素，为进一步诊疗提供参考。
