Huang Huasheng, Wei Yizhi, Li Jie
Department of Neurology, Liuzhou People's Hospital Affiliated to Guangxi Medical University, No.8 Rd.wenchang Liuzhou, Liuzhou, Guangxi Province, 545000, China.
Liuzhou Key Laboratory of Epilepsy Prevention and Research, Liuzhou, 545000, China.
BMC Neurol. 2025 Mar 5;25(1):86. doi: 10.1186/s12883-025-04104-9.
Anti-IgLON5 disease is a relatively rare autoimmune disease of the nervous system. The clinical course of this disease is generally chronic and progressive, exhibiting heterogeneity in clinical presentation and the lack of specific imaging features. We now report a case of a Anti-IgLON5 antibody-positive patient demonstrated two distinctive features. Firstly, the onset was marked by acute encephalopathy symptoms, including fever, with consciousness disturbance as the initial manifestation. Secondly, imaging studies revealed multiple lesions within the meninges and intracranial regions, characterized by extensive thickening and enhancement of the dura mater.
A previously healthy 78-year-old male patient presented with impaired consciousness and was admitted to the hospital. Brain MRI demonstrated abnormal signal located in the bilateral basal ganglia, frontal and parietal lobes. Post-contrast enhancement demonstrated thickening and enhancement of the dura mater in the bilateral frontal regions, along with mild enhancementin the cortical areas of the bilateral temporal lobes. Cerebrospinal fluid (CSF) analysis indicated the presence of oligoclonal bands in both serum and CSF, with a higher count in the CSF compared to serum. IgG antibodies against IgLON5 were detected in serum and CSF at a titer of 1:100. CSF concentrations of total Tau protein (t-Tau) and phosphorylated Tau protein (p-Tau) were normal. In conjunction with a positive serum and CSF IgLON5 antibody and exclusion of other diseases, diagnosis of anti-IgLON5 disease was made. Symptoms resolved completely after intravenous methylprednisolone and immunoglobulin therapy were administered. At 3-week follow-up the small patchy abnormal signal in the bilateral basal ganglia, frontal and parietal lobes have resolved. Additionally, post-contrast imaging reveals the absence of the previously noted abnormal dural enhancement. and there was no recurrence 18 months after the onset of the disease.
Anti-IgLON5 disease is a heterogeneous disorder characterized by a wide spectrum of clinical manifestations. IgLON5 encephalopathy characterized mainly by symptoms of acute neurological symptoms and MRI evidence of meningeal enhancement has not been reported previously. The appropriate diagnostic strategy should encompass a thorough clinical evaluation, testing for anti-IgLON5 antibodies in both CSF and serum, as well as HLA genotyping. Timely diagnosis and early Intravenous methylprednisolone and/or IVIG therapy are beneficial in improving prognosis and preventing recurrence.
抗IgLON5病是一种相对罕见的神经系统自身免疫性疾病。该疾病的临床病程通常为慢性进行性，临床表现具有异质性且缺乏特异性影像学特征。我们现报告一例抗IgLON5抗体阳性患者，其表现出两个独特特征。首先，起病以急性脑病症状为特征，包括发热，最初表现为意识障碍。其次，影像学研究显示脑膜和颅内区域有多个病变，其特征为硬脑膜广泛增厚和强化。
一名既往健康的78岁男性患者出现意识障碍并入院。脑部MRI显示双侧基底节、额叶和顶叶有异常信号。增强扫描显示双侧额叶硬脑膜增厚并强化，双侧颞叶皮质区域有轻度强化。脑脊液（CSF）分析表明血清和脑脊液中均存在寡克隆带，脑脊液中的数量高于血清。血清和脑脊液中检测到抗IgLON5的IgG抗体，滴度为1:100。脑脊液中总 Tau 蛋白（t-Tau）和磷酸化 Tau 蛋白（p-Tau）浓度正常。结合血清和脑脊液中抗IgLON5抗体阳性以及排除其他疾病，诊断为抗IgLON5病。静脉注射甲泼尼龙和免疫球蛋白治疗后症状完全缓解。在3周的随访中，双侧基底节、额叶和顶叶的小片状异常信号已消失。此外，增强扫描显示先前 noted 的硬脑膜异常强化消失。并且在疾病发作18个月后没有复发。
抗IgLON5病是一种具有广泛临床表现的异质性疾病。以前尚未报道过主要以急性神经症状和脑膜强化的MRI证据为特征的IgLON5脑病。适当的诊断策略应包括全面的临床评估、脑脊液和血清中抗IgLON5抗体检测以及HLA基因分型。及时诊断并早期静脉注射甲泼尼龙和/或静脉注射免疫球蛋白治疗有利于改善预后并预防复发。
