When DLB, PD, and PSP masquerade as MSA: an autopsy study of 134 patients.
When DLB, PD, and PSP masquerade as MSA: an autopsy study of 134 patients.
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DOI：
10.1212/wnl.0000000000001807
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发表时间：
2015-08-04
期刊：
影响因子：
9.9
通讯作者：
Dickson DW
中科院分区：
文献类型：
--
作者：
Koga S;Aoki N;Uitti RJ;van Gerpen JA;Cheshire WP;Josephs KA;Wszolek ZK;Langston JW;Dickson DW
为了确定提高多系统萎缩症 (MSA) 诊断准确性的方法，我们通过比较被证明患有 MSA 的患者和未患有 MSA 的患者之间的临床和病理特征，评估了尸检时诊断为 MSA 的患者的诊断过程。我们关注误诊的可能解释。这是对 134 名死前临床诊断为 MSA 的连续患者的回顾性研究，这些患者进行尸检并对大脑进行神经病理学评估。在 134 名患者中，125 名有足够的医疗记录可供审查。比较了尸检确诊的 MSA 患者与其他病理诊断患者的临床和病理特征，包括路易体痴呆 (DLB)、帕金森病 (PD) 和进行性核上性麻痹 (PSP)。在 134 名临床诊断为 MSA 的患者中，83 名（62%）在尸检时诊断正确。病理证实的 DLB 是最常见的误诊，其次是 PSP 和 PD。尽管符合中度至高度 DLB 可能性的病理标准，但一些 DLB 患者并未患有痴呆，并且没有人具有明显的阿尔茨海默型病理。自主神经功能衰竭是DLB和PD误诊的主要原因，小脑性共济失调是PSP误诊的主要原因。在这项尸检研究中，MSA 的诊断准确性并不理想。病理证实的 DLB、PD 和 PSP 是伪装成 MSA 的最常见疾病。这不仅对患者护理具有重要意义，而且对未经病理证实的多发性硬化症病例的研究也具有重要意义。
To determine ways to improve diagnostic accuracy of multiple system atrophy (MSA), we assessed the diagnostic process in patients who came to autopsy with antemortem diagnosis of MSA by comparing clinical and pathologic features between those who proved to have MSA and those who did not. We focus on likely explanations for misdiagnosis. This is a retrospective review of 134 consecutive patients with an antemortem clinical diagnosis of MSA who came to autopsy with neuropathologic evaluation of the brain. Of the 134 patients, 125 had adequate medical records for review. Clinical and pathologic features were compared between patients with autopsy-confirmed MSA and those with other pathologic diagnoses, including dementia with Lewy bodies (DLB), Parkinson disease (PD), and progressive supranuclear palsy (PSP). Of the 134 patients with clinically diagnosed MSA, 83 (62%) had the correct diagnosis at autopsy. Pathologically confirmed DLB was the most common misdiagnosis, followed by PSP and PD. Despite meeting pathologic criteria for intermediate to high likelihood of DLB, several patients with DLB did not have dementia and none had significant Alzheimer-type pathology. Autonomic failure was the leading cause of misdiagnosis in DLB and PD, and cerebellar ataxia was the leading cause of misdiagnosis in PSP. The diagnostic accuracy for MSA was suboptimal in this autopsy study. Pathologically confirmed DLB, PD, and PSP were the most common diseases to masquerade as MSA. This has significant implications not only for patient care, but also for research studies in MSA cases that do not have pathologic confirmation.