Department of Neurology, University of Alabama at Birmingham Birmingham, Alabama.
Brain Behav. 2012 Nov;2(6):838-43. doi: 10.1002/brb3.97. Epub 2012 Oct 1.
Whipple disease (WD) is usually a systemic infectious disease that can have central nervous system (CNS) involvement. WD confined to the CNS is extremely rare and difficult to diagnose, but can be fatal if not treated in a timely fashion. We present the case of a 42-year-old man with a subacute dementia accompanied by a movement disorder consisting of progressive supranuclear gaze palsy, myoclonus, and ataxia. Our patient lacked the typical magnetic resonance imaging (MRI) findings reported with isolated CNS WD and had a false-positive cerebrospinal fluid (CSF) 14-3-3 protein. The patient expired, and definitive diagnosis of isolated CNS WD was made by autopsy with characteristic macrophage accumulations found in the brain but not in the gastrointestinal tract. We examine the literature on isolated CNS WD and discuss how these previously unreported findings make a rare diagnosis even more challenging. The reported patient is the first in the literature with tissue diagnosis of isolated CNS WD in the setting of normal brain MRI and positive CSF 14-3-3 protein. Isolated CNS WD should be added to the list of considerations for a false-positive CSF 14-3-3 protein. Even in the absence of typical MRI lesions, a patient with subacute progressive dementia, supranuclear gaze palsy, and other various neurologic abnormalities should have the diagnosis of isolated CNS WD considered.
惠普尔病（WD）通常是一种全身性传染病，可累及中枢神经系统（CNS）。局限于 CNS 的 WD 极为罕见且难以诊断，但如果不及时治疗，可能致命。我们报告了一例 42 岁男性亚急性痴呆伴运动障碍，表现为进行性核上性眼球运动障碍、肌阵挛和共济失调。我们的患者缺乏孤立性 CNS WD 报道的典型磁共振成像（MRI）表现，且脑脊液（CSF）14-3-3 蛋白呈假阳性。患者死亡，尸检证实为孤立性 CNS WD 的明确诊断，大脑中存在特征性巨噬细胞聚集，但胃肠道中没有。我们检查了孤立性 CNS WD 的文献，并讨论了这些以前未报道的发现如何使罕见诊断更加困难。报告的患者是文献中首例在正常脑 MRI 和 CSF 14-3-3 蛋白阳性的情况下，经组织学诊断为孤立性 CNS WD 的患者。孤立性 CNS WD 应添加到假阳性 CSF 14-3-3 蛋白的考虑因素列表中。即使没有典型的 MRI 病变，对于亚急性进行性痴呆、核上性眼球运动障碍和其他各种神经异常的患者，也应考虑孤立性 CNS WD 的诊断。
