抗富亮氨酸胶质瘤失活蛋白1自身免疫性脑炎的临床特征、脑电图和脑成像结果的异质性:回顾性病例系列研究和文献综述

IF 1.2 Q4 CLINICAL NEUROLOGY
Emily Yixuan Huang, Hongfeng Gao, Ning Zhong
{"title":"抗富亮氨酸胶质瘤失活蛋白1自身免疫性脑炎的临床特征、脑电图和脑成像结果的异质性:回顾性病例系列研究和文献综述","authors":"Emily Yixuan Huang, Hongfeng Gao, Ning Zhong","doi":"10.1186/s42494-023-00132-5","DOIUrl":null,"url":null,"abstract":"<p><strong>Background: </strong>Anti-leucine-rich glioma-inactivated 1 (LGI-1) autoimmune encephalitis (AE), characterized by rapid decline of memory, seizures, and neuropsychiatric abnormalities, is a rare but devastating disorder. Early diagnosis and treatment are essential to prevent long-term sequelae. In this report, we provide a detailed description of clinical characteristics, laboratory test results, imaging, and electroencephalography (EEG) findings, as well as treatment responses of eight patients with anti-LGI-1 AE treated at our center.</p><p><strong>Case presentation: </strong>At the onset, all eight patients presented with confusion/memory deterioration, seizures (including faciobrachial dystonic seizures or other types of seizure), and behavioral changes such as hallucination, paranoia, and anxiety. Four patients were found with severe hyponatremia. Anti-LGI1 antibodies were detected in the cerebrospinal fluid and/or serum of all patients. For patients with faciobrachial dystonic seizures, no discernible scalp EEG change was detected, while EEG recording of patients experiencing other types of seizure showed focal slowing, focal epileptiform discharges, and focal onset seizures. All patients showed abnormal brain magnetic resonance imaging signals, mainly involving the mesial temporal lobe and the hippocampus. In addition, one patient also experienced fulminant cerebral edema during the acute phase of the illness. All patients received immunotherapy and anti-seizure medications and achieved good seizure control. Nevertheless, these patients continued to experience cognitive impairment during their long-term follow-ups.</p><p><strong>Conclusions: </strong>The care of anti-LGI1 AE patients requires rapid evaluation, prompt initiation of immunotherapy, and long-term follow-up. The long-term presence of neurocognitive complications observed in these patients underline the importance of developing reliable biomarkers that can distinguish between different subtypes of this disease with heterogeneous clinico-electrographico-radiological features. Further research is needed to understand the molecular mechanisms underlying the heterogeneity, in order to facilitate development of more effective treatments for anti-LGI1 AE.</p>","PeriodicalId":33628,"journal":{"name":"Acta Epileptologica","volume":"5 1","pages":"21"},"PeriodicalIF":1.2000,"publicationDate":"2023-08-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11960392/pdf/","citationCount":"0","resultStr":"{\"title\":\"Heterogeneity of clinical features, EEG and brain imaging findings in anti-leucine-rich glioma-inactivated protein 1 autoimmune encephalitis: a retrospective case series study and review of the literature.\",\"authors\":\"Emily Yixuan Huang, Hongfeng Gao, Ning Zhong\",\"doi\":\"10.1186/s42494-023-00132-5\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Background: </strong>Anti-leucine-rich glioma-inactivated 1 (LGI-1) autoimmune encephalitis (AE), characterized by rapid decline of memory, seizures, and neuropsychiatric abnormalities, is a rare but devastating disorder. Early diagnosis and treatment are essential to prevent long-term sequelae. In this report, we provide a detailed description of clinical characteristics, laboratory test results, imaging, and electroencephalography (EEG) findings, as well as treatment responses of eight patients with anti-LGI-1 AE treated at our center.</p><p><strong>Case presentation: </strong>At the onset, all eight patients presented with confusion/memory deterioration, seizures (including faciobrachial dystonic seizures or other types of seizure), and behavioral changes such as hallucination, paranoia, and anxiety. Four patients were found with severe hyponatremia. Anti-LGI1 antibodies were detected in the cerebrospinal fluid and/or serum of all patients. For patients with faciobrachial dystonic seizures, no discernible scalp EEG change was detected, while EEG recording of patients experiencing other types of seizure showed focal slowing, focal epileptiform discharges, and focal onset seizures. All patients showed abnormal brain magnetic resonance imaging signals, mainly involving the mesial temporal lobe and the hippocampus. In addition, one patient also experienced fulminant cerebral edema during the acute phase of the illness. All patients received immunotherapy and anti-seizure medications and achieved good seizure control. Nevertheless, these patients continued to experience cognitive impairment during their long-term follow-ups.</p><p><strong>Conclusions: </strong>The care of anti-LGI1 AE patients requires rapid evaluation, prompt initiation of immunotherapy, and long-term follow-up. The long-term presence of neurocognitive complications observed in these patients underline the importance of developing reliable biomarkers that can distinguish between different subtypes of this disease with heterogeneous clinico-electrographico-radiological features. Further research is needed to understand the molecular mechanisms underlying the heterogeneity, in order to facilitate development of more effective treatments for anti-LGI1 AE.</p>\",\"PeriodicalId\":33628,\"journal\":{\"name\":\"Acta Epileptologica\",\"volume\":\"5 1\",\"pages\":\"21\"},\"PeriodicalIF\":1.2000,\"publicationDate\":\"2023-08-15\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11960392/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Acta Epileptologica\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1186/s42494-023-00132-5\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q4\",\"JCRName\":\"CLINICAL NEUROLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Acta Epileptologica","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1186/s42494-023-00132-5","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"CLINICAL NEUROLOGY","Score":null,"Total":0}
引用次数: 0

摘要

背景:抗-富亮氨酸胶质瘤失活1 (LGI-1)自身免疫性脑炎(AE)是一种罕见但具有破坏性的疾病,其特征是记忆力迅速下降、癫痫发作和神经精神异常。早期诊断和治疗对于预防长期后遗症至关重要。在本报告中,我们详细描述了在我们中心治疗的8例抗lgi -1 AE患者的临床特征、实验室检查结果、影像学和脑电图(EEG)结果以及治疗反应。病例表现:发病时,所有8例患者均表现为精神错乱/记忆减退、癫痫发作(包括面肱肌张力障碍发作或其他类型的癫痫发作)和行为改变,如幻觉、偏执和焦虑。4例患者出现严重低钠血症。在所有患者的脑脊液和/或血清中检测到抗lgi1抗体。对于面肱肌张力障碍发作患者,未检测到明显的头皮脑电图变化,而其他类型癫痫发作患者的脑电图记录显示局灶性减慢、局灶性癫痫样放电和局灶性发作。所有患者均出现异常的脑磁共振成像信号,主要累及内侧颞叶和海马。此外,1例患者在疾病急性期也出现暴发性脑水肿。所有患者均接受免疫治疗和抗癫痫药物治疗,癫痫发作控制良好。尽管如此,这些患者在长期随访期间仍然存在认知障碍。结论:抗lgi1 AE患者的护理需要快速评估、及时启动免疫治疗、长期随访。在这些患者中观察到的神经认知并发症的长期存在强调了开发可靠的生物标志物的重要性,这些生物标志物可以区分具有异质临床-电图-放射特征的不同亚型的这种疾病。为了开发更有效的抗lgi1 AE治疗方法,需要进一步研究这种异质性的分子机制。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Heterogeneity of clinical features, EEG and brain imaging findings in anti-leucine-rich glioma-inactivated protein 1 autoimmune encephalitis: a retrospective case series study and review of the literature.

Background: Anti-leucine-rich glioma-inactivated 1 (LGI-1) autoimmune encephalitis (AE), characterized by rapid decline of memory, seizures, and neuropsychiatric abnormalities, is a rare but devastating disorder. Early diagnosis and treatment are essential to prevent long-term sequelae. In this report, we provide a detailed description of clinical characteristics, laboratory test results, imaging, and electroencephalography (EEG) findings, as well as treatment responses of eight patients with anti-LGI-1 AE treated at our center.

Case presentation: At the onset, all eight patients presented with confusion/memory deterioration, seizures (including faciobrachial dystonic seizures or other types of seizure), and behavioral changes such as hallucination, paranoia, and anxiety. Four patients were found with severe hyponatremia. Anti-LGI1 antibodies were detected in the cerebrospinal fluid and/or serum of all patients. For patients with faciobrachial dystonic seizures, no discernible scalp EEG change was detected, while EEG recording of patients experiencing other types of seizure showed focal slowing, focal epileptiform discharges, and focal onset seizures. All patients showed abnormal brain magnetic resonance imaging signals, mainly involving the mesial temporal lobe and the hippocampus. In addition, one patient also experienced fulminant cerebral edema during the acute phase of the illness. All patients received immunotherapy and anti-seizure medications and achieved good seizure control. Nevertheless, these patients continued to experience cognitive impairment during their long-term follow-ups.

Conclusions: The care of anti-LGI1 AE patients requires rapid evaluation, prompt initiation of immunotherapy, and long-term follow-up. The long-term presence of neurocognitive complications observed in these patients underline the importance of developing reliable biomarkers that can distinguish between different subtypes of this disease with heterogeneous clinico-electrographico-radiological features. Further research is needed to understand the molecular mechanisms underlying the heterogeneity, in order to facilitate development of more effective treatments for anti-LGI1 AE.

求助全文
通过发布文献求助,成功后即可免费获取论文全文。 去求助
来源期刊
Acta Epileptologica
Acta Epileptologica Medicine-Neurology (clinical)
CiteScore
2.00
自引率
0.00%
发文量
38
审稿时长
20 weeks
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
copy
已复制链接
快去分享给好友吧!
我知道了
右上角分享
点击右上角分享
0
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:604180095
Book学术官方微信