Guo Yu, Hao Hongjun, Sun Yunchuang
Department of Neurology, Peking University First Hospital, Xicheng District, Beijing, China.
Beijing Key Laboratory of Neurovascular Disease Discovery, Beijing, China.
Neurol Sci. 2025 Jun 30. doi: 10.1007/s10072-025-08331-3.
We report a rare case of autoimmune glial fibrillary acidic protein astrocytopathy (GFAP-A) presenting with generalized cortical encephalitis. A 51-year-old woman developed subacute cognitive decline and seizure. Brain MRI revealed diffuse cortical T2-FLAIR hyperintensities, sulcal effacement, cerebral edema, and diffuse leptomeningeal enhancement. Anti-GFAP antibody was detected in both serum and cerebrospinal fluid. The patient responded well to immunotherapy, with significant clinical and radiological improvement. This case further expands the phenotypic spectrum of GFAP-A and suggests potential heterogeneity in its underlying pathogenesis.
我们报告了一例罕见的自身免疫性胶质纤维酸性蛋白星形细胞病（GFAP-A），表现为弥漫性皮质脑炎。一名51岁女性出现亚急性认知功能减退和癫痫发作。脑部MRI显示弥漫性皮质T2-FLAIR高信号、脑沟变浅、脑水肿和弥漫性软脑膜强化。血清和脑脊液中均检测到抗GFAP抗体。该患者对免疫治疗反应良好，临床和影像学均有显著改善。此病例进一步扩展了GFAP-A的表型谱，并提示其潜在发病机制存在异质性。
