Suppr超能文献

儿童自身免疫性脑炎及其他伴有罕见神经元表面抗体的神经综合征:一项系统文献综述

Autoimmune Encephalitis and Other Neurological Syndromes With Rare Neuronal Surface Antibodies in Children: A Systematic Literature Review.

作者信息

Ancona Claudio, Masenello Valentina, Tinnirello Matteo, Toscano Luca Mattia, Leo Andrea, La Piana Chiara, Toldo Irene, Nosadini Margherita, Sartori Stefano

机构信息

Department of Women's and Children's Health, University Hospital of Padova, Padova, Italy.

Paediatric Neurology and Neurophysiology Unit, Department of Women's and Children's Health, University Hospital of Padova, Padova, Italy.

出版信息

Front Pediatr. 2022 Apr 20;10:866074. doi: 10.3389/fped.2022.866074. eCollection 2022.

Abstract

Neuronal surface antibody syndromes (NSAS) are an expanding group of autoimmune neurological diseases, whose most frequent clinical manifestation is autoimmune encephalitis (AE). Anti-NMDAR, anti-LGI1, and anti-CASPR2 autoimmunity represent the most described forms, while other NSAS are rarer and less well-characterized, especially in children. We carried out a systematic literature review of children with rare NSAS (with antibodies targeting D2R, GABAAR, GlyR, GABABR, AMPAR, amphiphysin, mGluR5, mGluR1, DPPX, IgLON5, and neurexin-3alpha) and available individual data, to contribute to improve their clinical characterization and identification of age-specific features. Ninety-four children were included in the review (47/94 female, age range 0.2-18 years). The most frequent NSAS were anti-D2R (28/94, 30%), anti-GABAAR (23/94, 24%), and anti-GlyR (22/94, 23%) autoimmunity. The most frequent clinical syndromes were AE, including limbic and basal ganglia encephalitis (57/94, 61%; GABAAR, D2R, GABABR, AMPAR, amphiphysin, and mGluR5), and isolated epileptic syndromes (15/94, 16%; GlyR, GABAAR). With the limitations imposed by the low number of cases, the main distinctive features of our pediatric literature cohort compared to the respective NSAS in adults included: absent/lower tumor association (exception made for anti-mGluR5 autoimmunity, and most evident in anti-amphiphysin autoimmunity); loss of female preponderance (AMPAR); relatively frequent association with preceding viral encephalitis (GABAAR, D2R). Moreover, while SPS and PERM are the most frequent syndromes in adult anti-GlyR and anti-amphiphysin autoimmunity, in children isolated epileptic syndromes and limbic encephalitis appear predominant, respectively. To our knowledge, this is the first systematic review on rare pediatric NSAS. An improved characterization may aid their recognition in children.

摘要

神经元表面抗体综合征(NSAS)是一类不断增多的自身免疫性神经系统疾病,其最常见的临床表现是自身免疫性脑炎(AE)。抗NMDAR、抗LGI1和抗CASPR2自身免疫是最常被描述的形式,而其他NSAS则较为罕见且特征描述较少,尤其是在儿童中。我们对患有罕见NSAS(抗体靶向D2R、GABAAR、GlyR、GABABR、AMPAR、 amphiphysin、mGluR5、mGluR1、DPPX、IgLON5和neurexin - 3α)的儿童及可用的个体数据进行了系统的文献综述,以有助于改善其临床特征描述并识别年龄特异性特征。该综述纳入了94名儿童(47/94为女性,年龄范围0.2 - 18岁)。最常见的NSAS是抗D2R(28/94,30%)、抗GABAAR(23/94,24%)和抗GlyR(22/94,23%)自身免疫。最常见的临床综合征是AE,包括边缘叶和基底节脑炎(57/94,61%;GABAAR、D2R、GABABR、AMPAR、amphiphysin和mGluR5),以及孤立性癫痫综合征(15/94,16%;GlyR、GABAAR)。鉴于病例数量较少所带来的局限性,与成人相应的NSAS相比,我们儿科文献队列的主要显著特征包括:肿瘤相关性缺失/降低(抗mGluR5自身免疫为例外,在抗amphiphysin自身免疫中最为明显);女性优势丧失(AMPAR);与先前病毒性脑炎的关联相对频繁(GABAAR、D2R)。此外,虽然僵人综合征(SPS)和持续性肌肉活动多态性(PERM)是成人抗GlyR和抗amphiphysin自身免疫中最常见的综合征,但在儿童中,孤立性癫痫综合征和边缘叶脑炎分别显得更为突出。据我们所知,这是关于罕见儿童NSAS的首次系统综述。更好的特征描述可能有助于在儿童中识别这些疾病。

相似文献

3
Thymoma and Autoimmune Encephalitis: Clinical Manifestations and Antibodies.胸腺瘤与自身免疫性脑炎:临床表现与抗体
Neurol Neuroimmunol Neuroinflamm. 2021 Jul 23;8(5). doi: 10.1212/NXI.0000000000001053. Print 2021 Jul.
8
Autoimmune encephalitis: recent updates and emerging challenges.自身免疫性脑炎:最新进展与新出现的挑战
J Clin Neurosci. 2014 May;21(5):722-30. doi: 10.1016/j.jocn.2013.07.017. Epub 2013 Sep 15.
9
[Clinical Phenomenology of Autoimmune Encephalitis].[自身免疫性脑炎的临床现象学]
Fortschr Neurol Psychiatr. 2016 May;84(5):271-80. doi: 10.1055/s-0042-104194. Epub 2016 Jun 14.

引用本文的文献

2
Decoding Dystonia in Autoimmune Disorders: A Scoping Review.自身免疫性疾病中肌张力障碍的解码:一项范围综述
Tremor Other Hyperkinet Mov (N Y). 2024 Dec 6;14:60. doi: 10.5334/tohm.915. eCollection 2024.
7
Anti-mGluR1 encephalitis: Case illustration and systematic review.抗代谢型谷氨酸受体1脑炎:病例说明与系统评价
Front Neurol. 2023 Apr 17;14:1142160. doi: 10.3389/fneur.2023.1142160. eCollection 2023.

本文引用的文献

2
Antibody-mediated neuropsychiatric disorders.抗体介导的神经精神障碍。
J Allergy Clin Immunol. 2022 Jan;149(1):37-40. doi: 10.1016/j.jaci.2021.11.008. Epub 2021 Nov 17.
9
Autoantibodies in neurological disease.神经疾病中的自身抗体。
Nat Rev Immunol. 2021 Dec;21(12):798-813. doi: 10.1038/s41577-021-00543-w. Epub 2021 May 11.

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验