Juneja Pallavi, Swor Dionne
Department of Neurology, Columbia University Irving Medical Center, New York, New York, USA.
Department of Neurology, Wake Forest University Baptist Medical Center, Winston-Salem, North Carolina, USA.
Case Rep Neurol. 2022 Jan 17;14(1):5-11. doi: 10.1159/000519947. eCollection 2022 Jan-Apr.
New-onset refractory status epilepticus (NORSE) is a rare clinical diagnosis. Autoimmune encephalitis and paraneoplastic encephalitis are the most common identifiable etiologies of NORSE; of the known autoimmune encephalitides, <200 cases of GAD65-related epilepsy have been reported in the literature. We describe a case of a 24-year-old female who presented with confusion and myoclonus. Electroencephalogram revealed NORSE that evolved into super-refractory status epilepticus. Her CSF showed a mild lymphocytic pleocytosis, and her MRI demonstrated changes in the bilateral temporal lobes. She was ultimately diagnosed with GAD65 autoimmune encephalitis and treated with immune-modulating therapy. This case highlights the complex diagnostic workup of patients with NORSE and the utility of validated prediction models for diagnosis and prognosis. While maintaining a broad differential, the patient's Antibody Prevalence in Epilepsy (APE) score was a helpful clinical tool to support the pursuit of an autoimmune etiology. We also underline the need to concomitantly treat patients quickly during diagnostic workup because earlier treatment increases the Response to Immunotherapy in Epilepsy (RITE) score, indicating a more favorable prognosis.
新发难治性癫痫持续状态（NORSE）是一种罕见的临床诊断。自身免疫性脑炎和副肿瘤性脑炎是NORSE最常见的可识别病因；在已知的自身免疫性脑炎中，文献报道的与GAD65相关的癫痫病例不足200例。我们描述了一例24岁女性，表现为意识模糊和肌阵挛。脑电图显示为NORSE，并演变为超难治性癫痫持续状态。她的脑脊液显示轻度淋巴细胞增多，磁共振成像显示双侧颞叶有改变。她最终被诊断为GAD65自身免疫性脑炎，并接受了免疫调节治疗。该病例突出了NORSE患者复杂的诊断检查以及经过验证的预测模型在诊断和预后方面的作用。在保持广泛鉴别诊断的同时，患者的癫痫抗体患病率（APE）评分是支持寻找自身免疫病因的有用临床工具。我们还强调在诊断检查期间需要同时迅速治疗患者，因为早期治疗会提高癫痫免疫治疗反应（RITE）评分，表明预后更有利。
