许多中枢神经系统(CNS)Whipple病直到死后才被诊断出来。很少有中枢神经系统Whipple病的评论描述了神经系统检查异常的频率,脑脊液研究,神经影像学,和肠道活检研究.尚未提出诊断和治疗指南。在这篇综述中,我们介绍了3例新的CNSWhipple病病例,并总结了文献,以确定诊断测试中神经系统体征和异常的频率。我们提出了诊断筛查指南,选择活检,和治疗。回顾84例中枢神经系统Whipple病(文献中81例,3新)显示80%的患者有全身体征。认知变化频繁(71%),47%的认知改变患者也有精神病症状。眼-面部-骨骼肌节律,中枢神经系统Whipple病的病因学,存在于20%的患者中,并且总是伴有核上垂直凝视麻痹。组织活检是一种敏感的技术;进行活检的人中有89%的活检结果为阳性。明确的中枢神经系统Whipple病的诊断和治疗应基于病理体征的存在(眼肌性肌肉节律或眼面-骨骼肌肉节律)或阳性活检或聚合酶链反应结果。在不明原因的全身症状和神经系统体征(核上垂直凝视麻痹,有节奏的肌阵鸣,有精神症状的痴呆,或下丘脑表现)。那些可能患有中枢神经系统Whipple病的人应该接受小肠活检。
Many cases of central nervous system (CNS) Whipple\'s disease are not diagnosed until postmortem. Few reviews of CNS Whipple\'s disease have delineated the frequencies of abnormalities on neurological examination, cerebrospinal fluid studies, neuroimaging, and intestinal biopsy studies.
Guidelines for diagnosis and treatment have not been proposed. In this review we present 3 new cases of CNS Whipple\'s disease and summarize the literature to determine the frequencies of neurological signs and abnormalities on diagnostic testing. We propose
guidelines for diagnostic screening, selection for biopsy, and treatment. Review of the 84 cases of CNS Whipple\'s disease (81 in the literature, 3 new) revealed that 80% of the patients had systemic signs. Cognitive changes were frequent (71%), and 47% with cognitive changes also had psychiatric signs. Oculomasticatory myorhythmia and oculo-facial-skeletal myorhythmia, pathognomic for CNS Whipple\'s disease, were present in 20% of patients, and were always accompanied by a supranuclear vertical gaze palsy. Tissue biopsy was a sensitive technique; 89% of those who had biopsies had positive biopsy results. Diagnosis and treatment of definite CNS Whipple\'s disease should be based on the presence of pathognomic signs (oculomasticatory myorhythmia or oculo-facial-skeletal myorhythmia) or positive biopsy or polymerase chain reaction results. Possible CNS Whipple\'s disease should be diagnosed in the setting of unexplained systemic symptoms and neurological signs (supranuclear vertical gaze palsy, rhythmic myoclonus, dementia with psychiatric symptoms, or hypothalamic manifestations). Those with possible CNS Whipple\'s disease should undergo small-bowel biopsy.