Lockhart Andrew, Heffernan Josephine, Kennedy Ann, Walsh Andrea, Heeney Ciara, Cheung Rosa, Howley Rachel, Cryan Jane, Beausang Alan, Farrell Michael, Brett Francesca
Clin Neuropathol. 2023 May-Jun;42(3):93-99. doi: 10.5414/NP301517.
There are no international guidelines for brain biopsy in neurological disease of unknown etiology, yet most practicing neurologists will encounter difficult cases in which biopsy is considered. This patient cohort is heterogenous, and it is unclear in which circumstances biopsy is most useful. We performed an audit of brain biopsies reviewed in our neuropathology department from 2010 to 2021. Of 9,488 biopsies, 331 biopsies undertaken for an undiagnosed neurological disease were identified. Where documented, the commonest symptoms were hemorrhage, encephalopathy, and dementia. 29% of biopsies were non-diagnostic. The most common clinically relevant findings on biopsy were infection, cerebral amyloid angiopathy with or without angiitis, and demyelination. Rarer conditions included CNS vasculitis, non-infectious encephalitis, and Creutzfeldt Jakob Disease. We highlight the value of brain biopsy in the workup of cryptogenic neurological disease despite recent advances in less invasive diagnostics.
对于病因不明的神经系统疾病，目前尚无国际脑活检指南，但大多数执业神经科医生都会遇到需要考虑进行活检的疑难病例。这一患者群体具有异质性，尚不清楚在哪些情况下活检最有用。我们对2010年至2021年在我们神经病理科进行检查的脑活检进行了一次审核。在9488例活检中，确定有331例是针对未确诊的神经系统疾病进行的。如有记录，最常见的症状是出血、脑病和痴呆。29%的活检未能得出诊断结果。活检中最常见的具有临床相关性的发现是感染、伴有或不伴有血管炎的脑淀粉样血管病以及脱髓鞘。较罕见的疾病包括中枢神经系统血管炎、非感染性脑炎和克雅氏病。尽管最近在侵入性较小的诊断方法方面取得了进展，但我们强调了脑活检在隐匿性神经系统疾病检查中的价值。
