Division of Neurology, The Children's Hospital of Philadelphia, Colket Translational Research Center, Philadelphia, Pennsylvania; Department of Neurology, The Hospital of the University of Pennsylvania, Philadelphia, Pennsylvania.
Department of Neurology, The Hospital of the University of Pennsylvania, Philadelphia, Pennsylvania; Department of Neurology, Erasmus Medical Center, Rotterdam, The Netherlands.
Pediatr Neurol. 2014 Feb;50(2):181-4. doi: 10.1016/j.pediatrneurol.2013.10.002. Epub 2013 Oct 14.
Anti-N-methyl-D-aspartate receptor encephalitis is an increasingly well-recognized inflammatory encephalitis in children and adults.
We report a previously healthy 21-month-old girl who presented with behavioral change, self-mutilatory behavior, and echolalia. Over the ensuing weeks, symptoms progressed to include unilateral upper extremity dystonia, gait impairment, dysphagia, and mutism. Magnetic resonance imaging of the brain showed a tiny area of signal abnormality in the subcortical white matter, but was otherwise normal. Continuous video electroencephalography showed slowing of the background rhythm, but was without epileptiform discharges. Lumbar puncture showed a mild pleocytosis of mixed cellularity; bacterial culture and testing for various viral encephalitides were negative. Serum and cerebrospinal fluid was positive for autoantibodies directed against the N-methyl-D-aspartate receptor, and she was diagnosed with anti-N-methyl-D-aspartate receptor encephalitis. The patient was successfully treated with a regimen of immunotherapy that included dexamethasone, intravenous immunoglobulin, and rituximab. One year after initial presentation, the patient remained symptom-free. We further review the clinical characteristics, results of diagnostic studies, treatment, and outcome of infants and toddlers diagnosed with anti-N-methyl-D-aspartate receptor encephalitis that have been previously reported in the literature.
Anti-N-methyl-D-aspartate receptor encephalitis is relatively common among infants and toddlers and often presents with a pattern of defining characteristics in this age group, particularly the absence of associated tumor.
抗 N-甲基-D-天冬氨酸受体脑炎是一种在儿童和成人中日益被认识到的炎症性脑炎。
我们报告了一例先前健康的 21 个月大女孩，其出现了行为改变、自残行为和模仿言语。在随后的几周内，症状进展为单侧上肢肌张力障碍、步态障碍、吞咽困难和缄默症。脑部磁共振成像显示皮质下白质有一小区域信号异常，但其他方面正常。连续视频脑电图显示背景节律减慢，但没有癫痫样放电。腰椎穿刺显示混合细胞轻度白细胞增多；细菌培养和各种病毒性脑炎检测均为阴性。血清和脑脊液中存在针对 N-甲基-D-天冬氨酸受体的自身抗体，诊断为抗 N-甲基-D-天冬氨酸受体脑炎。该患者经免疫治疗成功治疗，包括地塞米松、静脉注射免疫球蛋白和利妥昔单抗。初次发病 1 年后，患者无症状。我们进一步综述了文献中先前报道的婴儿和幼儿期抗 N-甲基-D-天冬氨酸受体脑炎的临床特征、诊断研究结果、治疗和结局。
抗 N-甲基-D-天冬氨酸受体脑炎在婴儿和幼儿中较为常见，常表现出该年龄段特有的特征模式，特别是无相关肿瘤。
