Goire Namraj, Buckland Michael, Cuganesan Ramesh, Saleem Sameer, Lea Vivienne, Beran Roy G
Neurology Department, Liverpool Hospital, Liverpool, NSW 2170, Australia.
Department of Pathology, Royal Prince Alfred Hospital, Sydney, NSW 2050, Australia.
Brain Sci. 2021 Sep 18;11(9):1238. doi: 10.3390/brainsci11091238.
This paper describes a case of bi-frontal vasogenic oedema associated with bilateral frontal lobe and left parietal lobe white matter lesions where extensive investigations, including brain biopsy, failed to establish a diagnosis.
A 67-year-old female presented with three weeks' history of memory loss, fatigue, insomnia, nausea, and occasional dysphasia. Physical examination was unremarkable, yet cerebral CT and MRI showed bilateral frontal lobe vasogenic oedema. Extensive investigations, including: biochemical; radiological; immunological; microbiological; haematological; histopathological; and cytological, failed to establish a confirmed diagnosis. A multidisciplinary team could not achieve a consensus for this atypical presentation. Brain biopsy was unusual, showing destructive inflammatory and subtly granulomatous disease, but an exhaustive list of auxiliary tests could not confirm a cause, and consensus favoured glial fibrillary acidic protein (GFAP) autoimmune encephalopathy.
A definitive diagnosis could not be established for this patient despite a gamut of investigations. Although some of the presenting features were consistent with GFAP astrocytopathy, initial staining of the patient's CSF for neuronal antibodies was negative. Her symptoms and radiological changes of brain imaging improved without any corticosteroid therapy.
Through this case report, the aim is to add to the repository of neurological sciences in the hope that future similar presentations could potentially lead to discovery of a new aetiology or contribute towards better understanding of an existing disease process.
本文描述了一例与双侧额叶和左侧顶叶白质病变相关的双额叶血管源性水肿病例,其中包括脑活检在内的广泛检查未能确诊。
一名67岁女性,有三周的记忆力减退、疲劳、失眠、恶心和偶尔言语困难病史。体格检查无异常,但脑部CT和MRI显示双侧额叶血管源性水肿。包括生化、放射学、免疫学、微生物学、血液学、组织病理学和细胞学在内的广泛检查未能确诊。多学科团队对这种非典型表现未能达成共识。脑活检结果不寻常,显示为破坏性炎症和细微的肉芽肿性疾病,但详尽的辅助检查清单无法确定病因,大家一致倾向于诊断为胶质纤维酸性蛋白(GFAP)自身免疫性脑病。
尽管进行了一系列检查,但该患者仍无法确诊。虽然一些临床表现与GFAP星形细胞病一致,但患者脑脊液中神经元抗体的初始染色为阴性。未经任何皮质类固醇治疗,她的症状和脑成像的放射学变化有所改善。
通过本病例报告,旨在丰富神经科学知识库,希望未来类似表现可能会促成新病因的发现,或有助于更好地理解现有疾病过程。