抗Sez6l2脑炎的影像学特征与预后：一项纵向队列研究及文献综述。
完整摘要 · 中文译文
抗癫痫相关6同源物样2（Sez6l2）脑炎是一种罕见的自身免疫性疾病，以小脑性共济失调和认知障碍为特征。我们系统分析中纳入的先前报道的13例病例集中于成人，在儿童人群 demographics、纵向多模态影像标志物以及难治性病例的有效管理方面留下了空白。本研究旨在扩展临床谱系，评估多模态影像在定位神经炎症/监测反应中的作用，并评估一线联合二线免疫治疗的疗效。我们分析了一个由5例Sez6l2抗体阳性患者（年龄15-72岁）组成的纵向队列，并结合系统综述（N = 18）。临床严重程度（mRS、CASE、MMSE、MoCA）、结构MRI和18F-DPA714 PET/MRI用于定位神经炎症并监测治疗反应。我们的队列包括首例有文献记录的青少年病例。全部5例患者均表现为共济失调和认知缺陷。虽然MRI显示3例患者存在小脑萎缩，但18F-DPA714 PET/MRI检测到小脑（n = 4）和双侧内侧颞叶（n = 1）的小胶质细胞激活，与临床表型精确对应。纵向观察中，病例1的临床改善与小脑示踪剂摄取降低7%-8%相平行。接受一线联合二线免疫治疗（efgartigimod、ofatumumab；n = 3）的患者实现了显著的认知和精神症状恢复。相反，在66岁已存在萎缩的患者中，仅一线治疗疗效有限，而青少年患者则表现出更fav 可治性反应。该系统评价（N = 18）证实普遍存在共济失调（100%）、频繁出现认知障碍（72%）以及显著残留残疾（中位mRS 4）。本研究将Sez6l2脑炎的人群谱扩展至青少年，并提供基于队列的证据，支持多模态影像在定位神经炎症/监测反应中的作用，强调联合免疫抑制剂可能是新的治疗选择。
完整摘要 · 英文原文
Anti-Seizure-Related 6 Homolog Like 2 (Sez6l2) encephalitis is a rare autoimmune disorder characterized by cerebellar ataxia and cognitive impairment. The 13 previously reported cases included in our systematic analysis focus on adults, leaving gaps in pediatric demographics, longitudinal multimodal imaging markers, and effective management of refractory cases. This study aimed to expand the clinical spectrum, evaluate multimodal imaging in localizing neuroinflammation/monitoring response, and assess the efficacy of combined first- and second-line immunotherapy. We analyzed a longitudinal cohort of five Sez6l2-antibody-positive patients (aged 15-72 years) alongside a systematic review (N = 18). Clinical severity (mRS, CASE, MMSE, MoCA), structural MRI, and 18F-DPA714 PET/MRI mapped neuroinflammation and monitored therapeutic response. Our cohort features the first documented adolescent case. All five patients presented with ataxia and cognitive deficits. While MRI revealed cerebellar atrophy in three patients, 18F-DPA714 PET/MRI detected microglial activation in the cerebellum (n = 4) and bilateral mesial temporal lobes (n = 1), mapping precisely to clinical phenotypes. Longitudinally, clinical improvement paralleled a 7%-8% reduction in cerebellar tracer uptake in Case 1. Patients receiving combined first- and second-line immunotherapy (efgartigimod, ofatumumab; n = 3) achieved pronounced cognitive and psychiatric recovery. Conversely, first-line therapy alone yielded limited efficacy in the 66-year-old patient with established atrophy, while the adolescent showed more favorable responsiveness. The systematic review (N = 18) confirmed universal ataxia (100%), frequent cognitive impairment (72%), and significant residual disability (median mRS 4). This study expands the demographic spectrum of Sez6l2 encephalitis to adolescents and provides cohort-based evidence for multimodal imaging in localizing neuroinflammation/monitoring response, highlighting combined immunosuppressants as possible new therapeutic options.