Department of Neurology, University of Texas Medical Branch, Galveston, TX, United States.
School of Medicine, University of Texas Medical Branch, Galveston, TX, United States.
Front Immunol. 2024 Sep 23;15:1459119. doi: 10.3389/fimmu.2024.1459119. eCollection 2024.
Focal onset seizures, characterized by localized neuronal hyperexcitability in the brain, can be related to various structural, immune, genetic, or metabolic abnormalities. Autoimmune epilepsies are increasingly recognized. Neurochondrin antibody has been reported in a variety of rare autoimmune neurological disorders. This article aims to highlight the relevance of anti-neurochondrin in autoimmune epilepsy.
This is a case presentation and literature review of autoimmune epilepsy associated with anti-neurochondrin antibody.
A 26-year-old African American right-handed man with a history of Sjogren's syndrome presented with near constant, rhythmic left-sided facial twitching movements, and one episode of generalized tonic clonic seizure. Magnetic resonance imaging (MRI) of the brain revealed borderline low volume right hippocampus. Cerebrospinal fluid (CSF) studies yielded elevated protein and mild lymphocytic pleocytosis. Antibody Prevalence in Epilepsy 2 (APE2) score was 6, and autoimmune workup was initiated. Anti-neurochondrin antibody returned positive in the CSF autoimmune encephalitis panel with a titer of 1:512 (Mayo Clinic TEST ID: ENC2). Seizures remained refractory to anti-seizure medications including divalproex, lacosamide, and oxcarbazepine. Immunotherapy with methylprednisolone and immunoglobulin improved his epileptic seizures.
This is the first reported case of refractory autoimmune epilepsy with positive CSF anti-neurochondrin antibody. This study contributes to the body of evidence supporting the role of neurochondrin antibody in epilepsy. Considering autoimmune testing in individuals with seizures having APE2 score > 4 can aid in timely diagnosis of immune-mediated epilepsy and initiation of immunotherapy, which can result in favorable clinical outcomes. Diagnosis of autoimmune epilepsy, in most cases, is based on clinical characteristics, MRI results, and CSF findings. In addition to the traditional antibody panel for autoimmune encephalitis, some novel antibodies, such as anti-neurochondrin, should also be considered.
局灶性起始发作的特征是大脑局部神经元过度兴奋，可能与各种结构、免疫、遗传或代谢异常有关。自身免疫性癫痫的认识越来越多。神经软骨素抗体已在多种罕见的自身免疫性神经疾病中报道。本文旨在强调神经软骨素抗体在自身免疫性癫痫中的相关性。
这是一例与神经软骨素抗体相关的自身免疫性癫痫的病例报告和文献复习。
一名 26 岁的非洲裔美国右利手男性，有干燥综合征病史，表现为持续不断的左侧面部抽搐，并有一次全身强直阵挛性发作。脑部磁共振成像（MRI）显示右侧海马体体积轻度减小。脑脊液（CSF）研究显示蛋白升高和轻度淋巴细胞增多。癫痫 2 抗体阳性率（Antibody Prevalence in Epilepsy 2，APE2）为 6，并开始进行自身免疫检查。CSF 自身免疫性脑炎检测试剂盒中的神经软骨素抗体呈阳性，滴度为 1:512（梅奥诊所测试 ID：ENC2）。抗癫痫药物（如丙戊酸钠、拉科酰胺和奥卡西平）对癫痫发作仍无反应。甲基强的松龙和免疫球蛋白免疫治疗改善了他的癫痫发作。
这是首例报道的难治性自身免疫性癫痫，CSF 中存在阳性抗神经软骨素抗体。这项研究为神经软骨素抗体在癫痫中的作用提供了更多证据。考虑到 APE2 评分>4 的癫痫患者进行自身免疫检测有助于及时诊断免疫介导性癫痫并开始免疫治疗，从而获得良好的临床结局。大多数情况下，自身免疫性癫痫的诊断基于临床特征、MRI 结果和 CSF 发现。除了传统的自身免疫性脑炎抗体检测试剂盒外，还应考虑一些新型抗体，如抗神经软骨素抗体。
