早期癫性脑病(early-onset epileptic encephalopathies,EEEs)是指在新生儿期或婴儿期出现持续的癫性活动,从而导致认知、运动全面发育落后,自闭症等灾难性的神经系统后遗症。近年来的研究提示,基因突变及拷贝数变异(rare copy number v...早期癫性脑病(early-onset epileptic encephalopathies,EEEs)是指在新生儿期或婴儿期出现持续的癫性活动,从而导致认知、运动全面发育落后,自闭症等灾难性的神经系统后遗症。近年来的研究提示,基因突变及拷贝数变异(rare copy number variants,CNV)与本病密切相关。文章介绍国际抗癫联盟(International League Against Epilepsy,ILAE)确认的、但病因不明的6种EEEs遗传研究进展,以及CNVs与EEEs的关系,以提高儿科神经专科医师对病因不明确的EEEs临床表型及基因型的认识。展开更多
目的探讨CHD2基因相关的癫■性脑病发病年龄与基因型关联性特点,提高CHD2致病变异可致早期癫■性脑病的临床认识。方法对复旦大学附属儿科医院收治的1例新生儿癫■性脑病患儿进行临床表型及基因型分析。以"CHD2基因"为关键词...目的探讨CHD2基因相关的癫■性脑病发病年龄与基因型关联性特点,提高CHD2致病变异可致早期癫■性脑病的临床认识。方法对复旦大学附属儿科医院收治的1例新生儿癫■性脑病患儿进行临床表型及基因型分析。以"CHD2基因"为关键词,检索中国知网、维普数据库和万方数据库,以"CHD2"为基因名称检索HGMD数据库,并以"CHD2gene"为关键词检索PubMed、Web of Science数据库,检索时间为建库至2018年11月29日,总结CHD2缺陷致癫■性脑病的临床特征及遗传学特点。结果患儿男,在新生儿期表现为惊厥发作、肌张力异常及喂养困难,全外显子测序分析提示CHD2基因存在新发可能致病变异[NM_001271:exon31:c.3951G>C(p.L1317F)]。文献检索目前国内外已报道CHD2基因致病病例67例,均尚未见新生儿期出现明显神经系统异常表现,但61.1%(11/18)病例存在癫■起病前神经发育障碍的病史。结合已报道病例及本文病例,癫■首次发作年龄为6个月以内(含6个月)共3例,均为错义突变;首次发作年龄6个月以上19例,其中5例为错义突变(26.3%)。结论 CHD2基因缺陷致癫■性脑病可在新生儿期即出现惊厥发作。CHD2基因的错义变异可能有引起癫■早期发作的倾向。仅表现为神经发育障碍,而无癫■发作的患儿,也应考虑可能携带CHD2致病变异的可能性。展开更多
A 62-year-old male with decompensated liver cirrhosis due to hepatitis C virus developed severe hepatic encephalopathy with status epileptic us. The blood ammonia level on admission was more than twice the normal leve...A 62-year-old male with decompensated liver cirrhosis due to hepatitis C virus developed severe hepatic encephalopathy with status epileptic us. The blood ammonia level on admission was more than twice the normal level. Brain computed tomography and magnetic resonance imaging were normal. In addition, electroencephalogram showed diffuse sharp waves, consistent with hepatic encephalopathy. The status epilepticus was resolved after antiepileptic therapy （phenytoin sodium） and treatment for hepatic encephalopathy （Branched chain amino acids）. The blood ammonia level normalized with the clinical improvement and the patient did not have a recurrence of status epilepticus after the end of the antiepileptic treatment. Additionally, the electroencephalogram showed normal findings. Thus, we diagnosed the patient as hepatic encephalopathy with status epilepticus. We consider the status epilepticus of this patient to a rare and interesting finding in hepatic encephalopathy.展开更多
Objective To evaluate the efficacy of electrocorticographic(ECoG) monitoring and the application of different surgical approaches in the surgical treatment of solitary supretentorial cavernous malformations with secon...Objective To evaluate the efficacy of electrocorticographic(ECoG) monitoring and the application of different surgical approaches in the surgical treatment of solitary supretentorial cavernous malformations with secondary epilepsy. Methods This study enrolled a consecutive series of 36 patients with solitary supratentorial cavernous malformations and secondary epilepsy who underwent surgery with intraoperative ECoG monitoring in the Department of Neurosurgery between January 2004 and January 2008. The patients were composed of 15 males and 21 females, aged between 8 and 52 years(mean age 27.3±2.8 years) at the time of surgery. Epilepsy history, the type of epilepsy at the presentation, lesion location, the incidence of residual epileptiform discharges, and postoperative outcomes were evaluated. Results Histopathological examination indicated cavernous malformations and hippocampal sclerosis in 36 and 5 cases, respectively. Neuronal degeneration, glial cell proliferation, and neurofibrillary tangles were found in all the resected cerebral tissues of extended lesionectomy of residual epileptic foci. Lesionectomy, anterior temporal lobectomy, anterior temporal lobectomy plus cortical thermocoagulation, extended lesionectomy, extended lesionectomy plus cortical thermocoagulation were performed in 4, 4, 1, 14, and 13 cases, respectively. Residual epileptiform discharges were captured in 9 out of the 14 patients who had additional cortical thermocoagulation. According to Engle class for postoperative outcomes, 27 cases were class I(75.00%), 5 were class II(13.89%), 2 were class III(5.56%), and 2 were class IV(5.56%), thus the total effective rate(class I+class II) was 88.89%. Neither of epilepsy history, the type of epilepsy, and the location of cavernous malformation was significantly related to outcomes(P>0.05). A significant relationship was found between the incidence of residual epileptiform discharges and outcomes(P=0.041). Conclusions Intraoperative ECoG monitoring, the application of different surgical approaches, and the resection of residual epileptic foci could produce good result in the surgical treatment of supratentorial cavernous malformation with secondary epilepsy. Postoperative residual epileptiform discharges could be a useful predictor for evaluating the outcomes.展开更多
文摘早期癫性脑病(early-onset epileptic encephalopathies,EEEs)是指在新生儿期或婴儿期出现持续的癫性活动,从而导致认知、运动全面发育落后,自闭症等灾难性的神经系统后遗症。近年来的研究提示,基因突变及拷贝数变异(rare copy number variants,CNV)与本病密切相关。文章介绍国际抗癫联盟(International League Against Epilepsy,ILAE)确认的、但病因不明的6种EEEs遗传研究进展,以及CNVs与EEEs的关系,以提高儿科神经专科医师对病因不明确的EEEs临床表型及基因型的认识。
文摘目的探讨CHD2基因相关的癫■性脑病发病年龄与基因型关联性特点,提高CHD2致病变异可致早期癫■性脑病的临床认识。方法对复旦大学附属儿科医院收治的1例新生儿癫■性脑病患儿进行临床表型及基因型分析。以"CHD2基因"为关键词,检索中国知网、维普数据库和万方数据库,以"CHD2"为基因名称检索HGMD数据库,并以"CHD2gene"为关键词检索PubMed、Web of Science数据库,检索时间为建库至2018年11月29日,总结CHD2缺陷致癫■性脑病的临床特征及遗传学特点。结果患儿男,在新生儿期表现为惊厥发作、肌张力异常及喂养困难,全外显子测序分析提示CHD2基因存在新发可能致病变异[NM_001271:exon31:c.3951G>C(p.L1317F)]。文献检索目前国内外已报道CHD2基因致病病例67例,均尚未见新生儿期出现明显神经系统异常表现,但61.1%(11/18)病例存在癫■起病前神经发育障碍的病史。结合已报道病例及本文病例,癫■首次发作年龄为6个月以内(含6个月)共3例,均为错义突变;首次发作年龄6个月以上19例,其中5例为错义突变(26.3%)。结论 CHD2基因缺陷致癫■性脑病可在新生儿期即出现惊厥发作。CHD2基因的错义变异可能有引起癫■早期发作的倾向。仅表现为神经发育障碍,而无癫■发作的患儿,也应考虑可能携带CHD2致病变异的可能性。
文摘A 62-year-old male with decompensated liver cirrhosis due to hepatitis C virus developed severe hepatic encephalopathy with status epileptic us. The blood ammonia level on admission was more than twice the normal level. Brain computed tomography and magnetic resonance imaging were normal. In addition, electroencephalogram showed diffuse sharp waves, consistent with hepatic encephalopathy. The status epilepticus was resolved after antiepileptic therapy （phenytoin sodium） and treatment for hepatic encephalopathy （Branched chain amino acids）. The blood ammonia level normalized with the clinical improvement and the patient did not have a recurrence of status epilepticus after the end of the antiepileptic treatment. Additionally, the electroencephalogram showed normal findings. Thus, we diagnosed the patient as hepatic encephalopathy with status epilepticus. We consider the status epilepticus of this patient to a rare and interesting finding in hepatic encephalopathy.
文摘Objective To evaluate the efficacy of electrocorticographic(ECoG) monitoring and the application of different surgical approaches in the surgical treatment of solitary supretentorial cavernous malformations with secondary epilepsy. Methods This study enrolled a consecutive series of 36 patients with solitary supratentorial cavernous malformations and secondary epilepsy who underwent surgery with intraoperative ECoG monitoring in the Department of Neurosurgery between January 2004 and January 2008. The patients were composed of 15 males and 21 females, aged between 8 and 52 years(mean age 27.3±2.8 years) at the time of surgery. Epilepsy history, the type of epilepsy at the presentation, lesion location, the incidence of residual epileptiform discharges, and postoperative outcomes were evaluated. Results Histopathological examination indicated cavernous malformations and hippocampal sclerosis in 36 and 5 cases, respectively. Neuronal degeneration, glial cell proliferation, and neurofibrillary tangles were found in all the resected cerebral tissues of extended lesionectomy of residual epileptic foci. Lesionectomy, anterior temporal lobectomy, anterior temporal lobectomy plus cortical thermocoagulation, extended lesionectomy, extended lesionectomy plus cortical thermocoagulation were performed in 4, 4, 1, 14, and 13 cases, respectively. Residual epileptiform discharges were captured in 9 out of the 14 patients who had additional cortical thermocoagulation. According to Engle class for postoperative outcomes, 27 cases were class I(75.00%), 5 were class II(13.89%), 2 were class III(5.56%), and 2 were class IV(5.56%), thus the total effective rate(class I+class II) was 88.89%. Neither of epilepsy history, the type of epilepsy, and the location of cavernous malformation was significantly related to outcomes(P>0.05). A significant relationship was found between the incidence of residual epileptiform discharges and outcomes(P=0.041). Conclusions Intraoperative ECoG monitoring, the application of different surgical approaches, and the resection of residual epileptic foci could produce good result in the surgical treatment of supratentorial cavernous malformation with secondary epilepsy. Postoperative residual epileptiform discharges could be a useful predictor for evaluating the outcomes.
