Schimmel M, Bien C G, Vincent A, Schenk W, Penzien J
Department of Paediatrics, Klinikum Augsburg, Stenglinstrasse 2, Augsburg, Germany.
Arch Dis Child. 2009 Apr;94(4):314-6. doi: 10.1136/adc.2008.149021.
The case of a 12-year-old girl with the typical clinical symptoms of the recently described anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis is reported. Within 6 weeks the full clinical spectrum of this condition presented with seizures, agitation, stupor, autonomic instability, dysphagia and hypoventilation leading to a diagnosis of pernicious catatonia. MRI and CSF glucose, protein and lactate were repeatedly normal. EEG revealed rhythmical slowing. No teratoma was detected. Recognition of the unique pattern of the clinical symptoms led to early consideration of this disease which was confirmed by detection of anti-NMDAR antibodies. After high dose prednisolone without clinical improvement, plasmapheresis was followed by a rapid reduction in antibodies and recovery within a few weeks. To our knowledge this is the youngest patient with anti-NMDAR encephalitis to have been described to date. We speculate that NMDAR antibodies may be directly involved in the pathogenesis of this disease.
报告了一例12岁女孩,其具有最近描述的抗N-甲基-D-天冬氨酸受体(NMDAR)脑炎的典型临床症状。在6周内,该疾病的全部临床症状表现为癫痫发作、烦躁不安、昏迷、自主神经功能不稳定、吞咽困难和通气不足,导致诊断为恶性紧张症。MRI以及脑脊液葡萄糖、蛋白质和乳酸水平多次正常。脑电图显示节律性减慢。未检测到畸胎瘤。对独特临床症状模式的识别促使早期考虑该疾病,抗NMDAR抗体的检测证实了这一诊断。在高剂量泼尼松龙治疗后临床症状无改善,血浆置换后抗体迅速减少,并在几周内康复。据我们所知,这是迄今为止描述的最年轻的抗NMDAR脑炎患者。我们推测NMDAR抗体可能直接参与了该疾病的发病机制。