Ancona Claudio, Masenello Valentina, Tinnirello Matteo, Toscano Luca Mattia, Leo Andrea, La Piana Chiara, Toldo Irene, Nosadini Margherita, Sartori Stefano
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.
Front Pediatr. 2022 Apr 20;10:866074. doi: 10.3389/fped.2022.866074. eCollection 2022.
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.
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。