Oakland University William Beaumont School of Medicine, Rochester, Michigan, USA
Neurology, William Beaumont Hospital, Royal Oak, Michigan, USA.
BMJ Case Rep. 2022 Jun 28;15(6):e249126. doi: 10.1136/bcr-2022-249126.
Anti--methyl-d-aspartate (NMDA) receptor encephalitis is a progressively debilitating, frequently fatal disease caused by autoantibodies against the NMDA receptor. Risk of delayed treatment is high due to variable presentations, lack of awareness and potential false negative diagnostic studies. In this case report, a woman in her 20s presented with psychiatric manifestations and rapidly declined. Dyskinetic movements and dysautonomia were observed. Initial cerebrospinal fluid and serum anti-NMDA receptor antibodies were negative. MRI was inconclusive. Electroencephalography demonstrated extreme delta brush. Pelvic CT revealed an adnexal teratoma. She remained refractory to treatment until day 126 when, after two cycles of cyclophosphamide, she started to improve. She participated in rehabilitation with eventual discharge home on day 269. Recognising the variable presentations of anti-NMDA receptor encephalitis is important in avoiding misdiagnosis and delayed treatment. If clinical suspicion remains high despite negative results, repeat testing should be pursued. Clinical response should guide treatment decisions in refractory cases.
抗 N-甲基-D-天冬氨酸（NMDA）受体脑炎是一种进行性衰弱、常致命的疾病，由针对 NMDA 受体的自身抗体引起。由于表现多样、缺乏认识和潜在的假阴性诊断研究，治疗延迟的风险很高。在本病例报告中，一名 20 多岁的女性表现出精神症状，并迅速恶化。观察到不自主运动和自主神经功能障碍。最初的脑脊液和血清抗 NMDA 受体抗体检测为阴性。MRI 结果不确定。脑电图显示极度 δ 刷。盆腔 CT 显示附件畸胎瘤。她对治疗一直没有反应，直到第 126 天，接受了两个周期的环磷酰胺治疗后，她开始好转。她接受了康复治疗，最终在第 269 天出院回家。认识到抗 NMDA 受体脑炎的多种表现对于避免误诊和治疗延迟很重要。如果尽管结果为阴性，但临床怀疑仍然很高，则应进行重复检测。在难治性病例中，临床反应应指导治疗决策。
