Service des Urgences Pédiatriques, Centre Hospitalier Universitaire de Bordeaux Groupe Pellegrin, Place Amélie Raba-Léon, 33076 Bordeaux Cedex, France.
Centre Français de Référence des Syndromes Neurologiques Paranéoplasiques, Hospices Civils de Lyon, Hôpital Neurologique, F-69677 Bron, France; Université Claude Bernard Lyon 1, CNRS UMR-5310, INSERM U-1217, Institut NeuroMyoGène, F-69003 Lyon, France.
Eur J Paediatr Neurol. 2018 May;22(3):404-411. doi: 10.1016/j.ejpn.2017.12.014. Epub 2017 Dec 28.
Autoimmune encephalitis with anti-N-methyl-d-aspartate receptor autoantibodies (NMDA-R-Abs) is a recently described disease affecting adult and pediatric patients. Symptoms of the disease are now perfectly described in the adult population but the clinical presentation is less known in young children. The aim of the present study was to describe the clinical presentation and the specificities of symptoms presented by young children with NMDA-R-Abs encephalitis to improve diagnosis of this disease, and to compare these to a series of previously published female adult patients. Fifty cases of children younger than twelve years of age diagnosed with NMDA-R-Abs encephalitis between January 1, 2007 and December 31, 2016 (27 females and 23 males) were retrospectively studied. The first neurological symptoms observed in young children with NMDA-R-Abs encephalitis were characterized by seizure (72%), especially focal seizure (42%), within a median of 15 days before other encephalitis symptoms; other patients mostly had behavioral disorders (26%). The seizures were frequently difficult to diagnose because of the transient unilateral dystonic or tonic posturing presentation or sudden unilateral pain in the absence of clonic movements. A post-ictal motor deficit was also frequently observed. This clinical presentation is different from that observed in adult females with NMDA-R-Abs encephalitis who initially present mainly psychiatric disorders (67%) or cognitive impairment (19%), and less frequently seizures (14%). The diagnosis of NMDA-R-Abs encephalitis should be systematically considered in young children of both sexes who present neurological symptoms suggesting recent seizures (focal or generalized) without obvious other etiology.
抗 N-甲基-D-天冬氨酸受体自身抗体（NMDA-R-Abs）自身免疫性脑炎是一种新描述的疾病，影响成人和儿科患者。该疾病的症状现在在成人人群中得到了很好的描述，但在幼儿中临床表现知之甚少。本研究的目的是描述 NMDA-R-Abs 脑炎幼儿的临床表现和特定症状，以提高对该疾病的诊断，并将这些与之前发表的一系列成年女性患者进行比较。
回顾性研究了 2007 年 1 月 1 日至 2016 年 12 月 31 日期间诊断为 NMDA-R-Abs 脑炎的 50 例 12 岁以下儿童（27 名女性和 23 名男性）。NMDA-R-Abs 脑炎幼儿的首发神经症状表现为癫痫（72%），尤其是局灶性癫痫（42%），中位数为脑炎其他症状前 15 天；其他患者主要表现为行为障碍（26%）。由于短暂的单侧扭曲或强直性姿势或无阵挛性运动的单侧突发疼痛，癫痫发作常难以诊断。癫痫发作后还经常出现运动功能障碍。这种临床表现与 NMDA-R-Abs 脑炎成年女性不同，后者最初主要表现为精神障碍（67%）或认知障碍（19%），癫痫发作较少见（14%）。对于表现出近期癫痫发作（局灶性或全身性）而无明显其他病因的男女幼儿，应系统考虑 NMDA-R-Abs 脑炎的诊断。
