Severe childhood encephalopathy with dyskinesia and prolonged cognitive disturbances: evidence for anti-N-methyl-d-aspartate receptor encephalitis
Severe childhood encephalopathy with dyskinesia and prolonged cognitive disturbances: evidence for anti-N-methyl-d-aspartate receptor encephalitis
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DOI：
10.1111/j.1469-8749.2009.03542.x
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发表时间：
2010-05-01
影响因子：
3.8
通讯作者：
Deonna, Thierry
中科院分区：
文献类型：
--
作者：
Poloni, Claudia;Korff, Christian M.;Deonna, Thierry
目的我们报道了四例获得性严重脑病，伴有大量运动机能亢进、明显的神经和认知衰退、睡眠障碍、长期沉默、恢复明显延迟（完全恢复时间在5至18个月之间），总体结果良好，及其与抗N-甲基-d-天冬氨酸（抗NMDA）受体抗体的相关性。方法我们回顾性回顾了这四例病例，并回顾了文献。结果抗NMDA受体抗体（无卵巢）在本研究中测试的两名儿童中发现了迄今为止检测到的畸胎瘤。解释临床特征与 Sebire 等人 1992 年首次报道的相似，1 但此后很少被认识到。睡眠障碍并未被强调为该疾病的一部分，但似乎是一个重要特征，而昏迷在这种情况下不太确定且难以评估。症状、演变（主要是发作时癫痫发作）、严重程度、实验室异常检查结果很少、恢复非常缓慢以及管理困难等综合因素，证明其作为一个特定实体的认可是合理的。其神经病理学基础可能在解剖学上与昏睡性脑炎所涉及的基础相似，其中相同的目标功能（睡眠和运动）受到影响，但相反，伴有嗜睡和运动迟缓。这种综合征与抗 NMDA 受体脑炎非常相似，后者已在成人中报道过，并且通常是副肿瘤性的。
AimWe report four cases of acquired severe encephalopathy with massive hyperkinesia, marked neurological and cognitive regression, sleep disturbance, prolonged mutism, and a remarkably delayed recovery (time to full recovery between 5 and 18mo) with an overall good outcome, and its association with anti-N-methyl-d-aspartate (anti-NMDA) receptor antibodies.MethodWe reviewed the four cases retrospectively and we also reviewed the literature.ResultsAnti-NMDA receptor antibodies (without ovarian teratoma detected so far) were found in the two children tested in this study.InterpretationThe clinical features are similar to those first reported in 1992 by Sebire et al., 1 and rarely recognized since. Sleep disturbance was not emphasized as part of the disorder, but appears to be an important feature, whereas coma is less certain and difficult to evaluate in this setting. The combination of symptoms, evolution (mainly seizures at onset), severity, paucity of abnormal laboratory findings, very slow recovery, and difficult management justify its recognition as a specific entity. The neuropathological substrate may be anatomically close to that involved in encephalitis lethargica, in which the same target functions (sleep and movement) are affected but in reverse, with hypersomnolence and bradykinesia. This syndrome closely resembles anti-NMDA receptor encephalitis, which has been reported in adults and is often paraneoplastic.