Sartori Stefano, Nosadini Margherita, Cesaroni Elisabetta, Falsaperla Raffaele, Capovilla Giuseppe, Beccaria Francesca, Mancardi Maria Margherita, Santangelo Giuseppe, Giunta Leandra, Boniver Clementina, Cantalupo Gaetano, Cappellari Alberto, Costa Paola, Dalla Bernardina Bernardo, Dilena Robertino, Natali Sora Maria Grazia, Pelizza Maria Federica, Pruna Dario, Serino Domenico, Vanadia Francesca, Vigevano Federico, Zamponi Nelia, Zanus Caterina, Toldo Irene, Suppiej Agnese
Paediatric Neurology Unit, Department of Woman's and Child's Health, University Hospital of Padua, Padua, Italy.
Child Neuropsychiatry Unit, Polytechnic University of the Marche, Ancona, Italy.
Eur J Paediatr Neurol. 2015 Jul;19(4):453-63. doi: 10.1016/j.ejpn.2015.02.006. Epub 2015 Mar 3.
Given the rarity of this condition, especially in children, there is a paucity of large reported paediatric case series of anti-N-methyl-d-aspartate receptor encephalitis.
To contribute to define the features of this condition, we describe retrospectively a new nationwide case series of 20 children (50% females), referred by 13 Italian centres.
Mean age at onset was 8 years (range 3-17). Prodromal symptoms were reported in 31.6%; onset was with neurological symptoms in 70%, and with behavioural/psychiatric disturbances in 30%. Most patients developed a severe clinical picture (90%), and 41% experienced medical complications; children 12-18 years old seemed to be more severe and symptomatic than younger patients. All children received first-line immune therapy; second-line treatment was administered to 45%. Relapses occurred in 15%. At last follow-up (mean 23.9 months, range 5-82), 85% patients had mRS 0-1; this rate was higher among older patients, and in those receiving first immune therapy within 1 month.
Our case series confirms a symptomatologic core of paediatric anti-N-methyl-d-aspartate receptor encephalitis, even though displaying some distinctive features that may be explained by a specific genetic background or by the limited number of patients. The growing incidence of this condition, the relative age-dependent variability of its manifestations, the availability of immunotherapy and the possible better outcome with early treatment impose a high index of clinical suspicion be maintained. In the absence of data suggesting other specific etiologies, paediatricians should consider this diagnosis for children presenting with neurological and/or behavioural or psychiatric disturbances, regardless of age and gender.
鉴于这种疾病的罕见性，尤其是在儿童中，关于抗 N-甲基-D-天冬氨酸受体脑炎的大型儿科病例系列报道较少。
为有助于明确这种疾病的特征，我们回顾性描述了一个新的全国性病例系列，包括 20 名儿童（50%为女性），由 13 个意大利中心转诊而来。
发病的平均年龄为 8 岁（范围 3 - 17 岁）。31.6%的患者有前驱症状；70%起病时有神经系统症状，30%起病时有行为/精神障碍。大多数患者病情严重（90%），41%出现医疗并发症；12 - 18 岁的儿童似乎比年幼患者病情更严重且症状更多。所有儿童均接受了一线免疫治疗；45%接受了二线治疗。15%的患者复发。在最后一次随访时（平均 23.9 个月，范围 5 - 82 个月），85%的患者改良 Rankin 量表评分为 0 - 1 分；该比例在年长患者以及在 1 个月内接受首次免疫治疗的患者中更高。
我们的病例系列证实了儿童抗 N-甲基-D-天冬氨酸受体脑炎的症状学核心，尽管表现出一些独特特征，这可能由特定的遗传背景或患者数量有限所解释。这种疾病发病率的上升、其表现相对年龄依赖性的变异性、免疫治疗的可用性以及早期治疗可能带来的更好预后，都要求保持高度的临床怀疑指数。在没有提示其他特定病因的数据时，儿科医生应考虑对出现神经和/或行为或精神障碍的儿童进行此诊断，无论其年龄和性别。
