Shosha Eslam, Connolly Colleen, Budhram Adrian
Neurology Division, Department of Medicine, McMaster University, Hamilton Health Science Center, Hamilton, ON, Canada.
Department of Clinical Neurological Sciences, Western University, London Health Science Center, London, ON, Canada.
Front Neurol. 2024 Apr 18;15:1366263. doi: 10.3389/fneur.2024.1366263. eCollection 2024.
Autoimmune glial fibrillary acidic protein (GFAP) astrocytopathy is a recently emerging autoimmune disease of the central nervous system (CNS); GFAP astrocytopathy is characterized by optic neuritis and meningoencephalomyelitis. We report the case of a 55-year-old man, otherwise healthy, who presented with isolated headaches for three months, without other features of meningoencephalitis or myelitis. His neurological examination and fundoscopy were unremarkable. Gadolinium-enhanced brain MRI demonstrated increased T2 hyperintensity within the right sub-lenticular basal ganglia, with additional leptomeningeal enhancement along the bilateral perisylvian regions and mesial temporal lobes. Cerebrospinal fluid (CSF) analysis showed lymphocytic pleocytosis, elevated protein, matching oligoclonal bands, and a negative infectious and cytological workup. Cell-based assays for anti-aquaporin-4, anti-myelin oligodendrocyte glycoprotein, autoimmune encephalitis panel, and vasculitis workup were all negative, except for CSF positivity for GFAP α antibody. Oncological screening, including CT of the chest, abdomen, pelvis, and scrotal US, was unremarkable. Immunotherapy with high-dose intravenous steroids for five days and subsequent single four-weekly doses resulted in the resolution of both clinical and radiographic features, with a maintained status 24 months after onset. This case highlights isolated headache and basal ganglia, mesial temporal lobe involvement as a rare presentation of autoimmune GFAP astrocytopathy.
自身免疫性胶质纤维酸性蛋白（GFAP）星形细胞病是一种最近出现的中枢神经系统（CNS）自身免疫性疾病；GFAP星形细胞病的特征是视神经炎和脑膜脑脊髓炎。我们报告了一例55岁的男性病例，他身体健康，出现孤立性头痛3个月，无脑膜脑炎或脊髓炎的其他特征。他的神经系统检查和眼底检查均无异常。钆增强脑MRI显示右侧豆状核下基底节内T2高信号增强，双侧外侧裂周围区域和颞叶内侧软脑膜也有强化。脑脊液（CSF）分析显示淋巴细胞增多、蛋白升高、寡克隆带匹配，感染和细胞学检查均为阴性。基于细胞的抗水通道蛋白4、抗髓鞘少突胶质细胞糖蛋白、自身免疫性脑炎检测组和血管炎检查均为阴性，除了CSF中GFAPα抗体呈阳性。包括胸部、腹部、骨盆CT和阴囊超声在内的肿瘤筛查均无异常。给予高剂量静脉注射类固醇免疫治疗5天，随后每四周单次给药，临床和影像学特征均得到缓解，发病后24个月病情维持稳定。该病例突出了孤立性头痛以及基底节、颞叶内侧受累作为自身免疫性GFAP星形细胞病的一种罕见表现。
