Shetty Dhruv, Brahmbhatt Sneh, Desai Amit, Bathla Girish, Mohan Suyash, Gupta Vivek, Soni Neetu, Vibhute Prasanna, Agarwal Amit
From the Department of Radiology (D.S., S.B., A.D., G.B., V.G., N.S., P.V., A.A.), Mayo Clinic, Jacksonville, Florida.
Department of Radiology, Perelman School of Medicine (S.M), University of Pennsylvania, Philadelphia, Pennsylvania.
AJNR Am J Neuroradiol. 2024 Oct 3;45(10):1394-1402. doi: 10.3174/ajnr.A8236.
Glial fibrillary acidic protein (GFAP) astrocytopathy is a recently described autoimmune inflammatory disorder of the CNS characterized by the presence of specific antibodies targeting the intracellular filament protein in mature astrocytes. The pathogenesis is heterogeneous and poorly understood, with around 20%-34% of cases occurring as a paraneoplastic syndrome, most frequently associated with ovarian teratomas. It presents clinically as acute or subacute encephalomyelitis, and the diagnosis relies on imaging and detection of GFAP-Immunoglobulin (GFAP-IgG) in the CSF. Characteristic imaging findings include linear perivascular enhancement in the white matter extending in a radial pattern. Other imaging findings include periependymal enhancement, longitudinally extensive cord signal changes, intramedullary enhancement, optic neuritis, and papillitis. There is significant imaging overlap with other neuroinflammatory diseases like neuromyelitis optica spectrum disorder and lymphoproliferative conditions. GFAP astrocytopathy is characteristically responsive to steroids with, however, a significant rate of relapse. Currently, literature on this novel entity is limited with no established diagnostic criteria or standard treatment regimen. This comprehensive review explores the clinical, radiographic, and histopathologic aspects of GFAP astrocytopathy, shedding light on its complex nature and potential diagnostic challenges. The paper highlights the neuroimaging findings with a focus on differentiating GFAP astrocytopathy from other neuroinflammatory disorders.
胶质纤维酸性蛋白(GFAP)星形细胞病是一种最近被描述的中枢神经系统自身免疫性炎症性疾病,其特征是存在针对成熟星形细胞内丝状蛋白的特异性抗体。其发病机制具有异质性且了解甚少,约20%-34%的病例作为副肿瘤综合征出现,最常与卵巢畸胎瘤相关。临床上表现为急性或亚急性脑脊髓炎,诊断依赖于脑脊液中GFAP免疫球蛋白(GFAP-IgG)的影像学检查和检测。特征性影像学表现包括白质中呈放射状延伸的线性血管周围强化。其他影像学表现包括室管膜周围强化、纵向广泛的脊髓信号改变、髓内强化、视神经炎和视乳头炎。与视神经脊髓炎谱系障碍和淋巴增殖性疾病等其他神经炎症性疾病存在明显的影像学重叠。GFAP星形细胞病通常对类固醇有反应,然而,复发率较高。目前,关于这个新实体的文献有限,没有既定的诊断标准或标准治疗方案。这篇综述探讨了GFAP星形细胞病的临床、影像学和组织病理学方面,揭示了其复杂的性质和潜在的诊断挑战。本文重点介绍了神经影像学表现,着重于将GFAP星形细胞病与其他神经炎症性疾病区分开来。