Department of Neurology, University of California, San Francisco, San Francisco, California, USA.
Curr Opin Neurol. 2020 Jun;33(3):372-380. doi: 10.1097/WCO.0000000000000814.
To systematically review the clinical features, diagnosis, and management of anti-gamma-aminobutyric acid receptor Type A (GABAA) autoimmune encephalitis with a focus on recent data.
In a review of published reports, we identified 50 cases of anti-GABAA receptor encephalitis with clinical features reported. The median age at presentation was 47 years old (range, 2.5 months-88 years old), 64% were adults, 36% were children and it occurred in both males and females. Eight-two percent (41/50) presented with seizures, 72% (36/50) with encephalopathy, and 58% (29/50) with both. Of those presenting with seizures, 42% developed status epilepticus during their disease course. Ninety-six percent (48/50) had MRI results reported, with 83% of these cases having abnormal findings, most commonly multifocal/diffuse cortical and subcortical T2/FLAIR hyperintense lesions without associated gadolinium enhancement. Almost one-third, 28% (14/50), had an associated malignancy detected by the time of diagnosis, 64% (9/14) of which was thymoma. Of 44 patients with outcomes reported, 80% had partial or complete recovery, whereas 20% had poor outcomes including 11% (5/44) who died. Of the 42 patients with type of treatment(s) and outcomes reported, 54% (23/42) received only first-line immunotherapy and 31% (13/42) received first-line and second-line immunotherapy. Receiving a combination of first-line and second-line immunotherapy may be associated with higher likelihood of complete recovery. When follow-up MRIs were reported, all showed improvement, and sometimes complete resolution, of T2/FLAIR hyperintensities.
Anti-GABAA receptor encephalitis can present across the age spectrum and should be considered in patients who present with rapidly progressive encephalopathy and/or seizures. Brain MRI often shows a distinctive pattern of multifocal cortical and subcortical T2/FLAIR hyperintense lesions, generally not typical of other known central nervous system autoantibody associated encephalitis syndromes. High clinical suspicion and early diagnosis are important given the potential for clinical improvement with immunotherapy.
系统回顾抗γ-氨基丁酸 A 型（GABAA）受体自身免疫性脑炎的临床特征、诊断和治疗，重点关注近期数据。
在对已发表报告的回顾中，我们确定了 50 例有临床特征报道的抗 GABAA 受体脑炎病例。发病时的中位年龄为 47 岁（范围，2.5 个月至 88 岁），64%为成年人，36%为儿童，男女均可发病。82%（41/50）表现为癫痫发作，72%（36/50）表现为脑病，58%（29/50）同时存在这两种情况。在出现癫痫发作的患者中，42%在疾病过程中发展为癫痫持续状态。96%（48/50）报告了 MRI 结果，其中 83%的病例存在异常，最常见的是多灶性/弥漫性皮质和皮质下 T2/FLAIR 高信号病变，无相关钆增强。将近三分之一，28%（14/50），在诊断时发现了相关恶性肿瘤，其中 64%（9/14）为胸腺瘤。在报告了结局的 44 名患者中，80%有部分或完全恢复，而 20%的结局较差，包括 11%（5/44）死亡。在报告了治疗类型和结局的 42 名患者中，54%（23/42）仅接受一线免疫治疗，31%（13/42）接受一线和二线免疫治疗。接受一线和二线免疫治疗联合治疗可能与更高的完全恢复可能性相关。当报告了随访 MRI 时，所有患者的 T2/FLAIR 高信号均有改善，有时甚至完全缓解。
抗 GABAA 受体脑炎可发生于整个年龄谱，对于出现快速进展性脑病和/或癫痫发作的患者，应考虑该疾病。脑 MRI 通常显示出独特的多灶性皮质和皮质下 T2/FLAIR 高信号病变模式，通常与其他已知的中枢神经系统自身抗体相关脑炎综合征不同。鉴于免疫治疗可能改善临床症状，因此高度的临床怀疑和早期诊断非常重要。
