Department of Neuropathology, Beaumont Hospital, Dublin 9, Ireland.
Department of Neuroradiology, Beaumont Hospital, Dublin 9, Ireland.
Ir J Med Sci. 2023 Jun;192(3):1349-1354. doi: 10.1007/s11845-022-03070-2. Epub 2022 Jul 15.
Creutzfeldt-Jakob disease (CJD) is a rapidly progressive, neurodegenerative disease. In Ireland, clinical diagnostics and laboratory testing remain the responsibility of the managing clinician and the Neuropathology Department at the Beaumont Hospital, respectively. Centralized review of individual cases is not undertaken.
To determine how diagnostic processes for CJD could be improved in Ireland and to outline the structure and referral process for a new CJD review panel at the Beaumont Hospital.
We surveyed Irish neurologists' experiences on the management of CJD in Ireland. We measured turnaround times (TAT) for CSF samples referred for diagnostic CJD testing. Finally, we retrospectively reviewed imaging of autopsy-proven CJD cases to compare with initial reports.
Ninety-three percent of neurologists supported a national central review of suspect CJD cases. A second clinical opinion was considered to be of likely benefit by 79%. Additionally, 93% reported that a centralized review of neuroradiology would be useful. All respondents felt that expediting turnaround of CSF analysis would be of benefit. The average TAT for CSF testing was 35.4 days. In retrospective review of imaging, all patients demonstrated MRI findings consistent with CJD. However, in only one of these cases were the initial pre-autopsy radiological findings reported as being consistent with CJD.
These findings support the need for improvements to the Irish National CJD Surveillance Unit to maximize antemortem diagnostic accuracy. On foot of this, a clinical CJD Multidisciplinary Team (CJD MDT) has been established to provide a second opinion on (i) the patient's clinical history, (ii) neuroradiology and (iii) and neurophysiology reports (where available).
克雅氏病（CJD）是一种快速进展的神经退行性疾病。在爱尔兰，临床诊断和实验室检测分别由主治临床医生和 Beaumont 医院神经病理学部门负责。未对个别病例进行集中审查。
确定如何改进爱尔兰的 CJD 诊断流程，并概述 Beaumont 医院新的 CJD 审查小组的结构和转介流程。
我们调查了爱尔兰神经病学家在爱尔兰管理 CJD 的经验。我们测量了 CSF 样本转介进行诊断性 CJD 检测的周转时间（TAT）。最后，我们回顾性地审查了尸检证实的 CJD 病例的影像学，以与初始报告进行比较。
93%的神经病学家支持对疑似 CJD 病例进行国家集中审查。79%的人认为第二次临床意见可能有益。此外，93%的人报告说，对神经放射学进行集中审查将是有用的。所有受访者都认为加快 CSF 分析的周转时间将是有益的。CSF 检测的平均 TAT 为 35.4 天。在对影像学的回顾性审查中，所有患者的 MRI 表现均与 CJD 一致。然而，在这些病例中，只有一例报告的初始术前放射学结果与 CJD 一致。
这些发现支持对爱尔兰国家 CJD 监测单位进行改进，以最大限度地提高生前诊断准确性。在此基础上，成立了临床 CJD 多学科小组（CJD MDT），为（i）患者的临床病史、（ii）神经放射学和（iii）神经生理学报告（如有）提供第二次意见。
