进行性核上性眼肌麻痹7例及文献复习

Progressive supranuclear palsy:A report of 7 cases and literature review

目的探讨进行性核上性眼肌麻痹（progressive supranuclear palsy,PSP）的临床和脑MRI特征,以提高临床医生对PSP的认识。方法回顾性分析7例PSP患者的临床及影像学资料并复习相关文献。结果7例中男6例,女1例;发病年龄47~68岁。均隐匿起病,缓慢进展。从发病到就诊的时间为0~5年,从就诊到诊断PSP的时间为1~12年。均为散发病例。4例以动作变慢、步态不稳为首发症状;2例以眼部症状起病;1例首先出现双手抖动。所有患者均有核上性眼肌麻痹和反复跌倒,6例有轴性肌张力增高和假性延髓性麻痹,4例出现sitting en bloc征,2例有认知障碍。7例MR均显示＂蜂鸟征＂和＂鼠耳征＂。对照NINDS-SPSP诊断标准,2例拟诊,5例疑诊。结论 PSP主要发生于中老年人,以反复跌倒、躯干肌肌强直、垂直性核上性凝视麻痹为临床特征;脑MR矢状位显示中脑被盖部＂蜂鸟征＂,轴位显示中脑＂鼠耳征＂是其影像学特征。PSP的诊断主要依据临床表现及神经影像学检查,早期易误诊。

Objective To improve the recognition of progressive supranuclear palsy （PSP）, the clinical and neuroimaging features of PSP were analyzed. Methods The clinical data of 7 cases with PSP were analyzed retrospectively, and the related literatures of PSP were reviewed. Results Among the 7 cases, 6 were male, and 1 was female. The age of onset was 47-68 years. The onset of all the patients was insidious and the disease slowly progressed. The duration between the onset and office visiting was 0-5 years, the intermission from office visiting to establishment of diagnosis of PSP was 1 12 years. All the patients were sporadic. The initial symptoms of PSP were postural instability （4/7）, symptoms of eyes （2/7）, and tremor of hands （1/7）. Supranuclear gaze palsy and falls presented in all of our cases, 6 patients showed axial dystonia and pseudobulbar palsy, 4 patients showed sitting en bloc sign, and 2 patients showed mild cognitive impairment. Hummingbird sign and mouse ears sign on MRI were observed in all of them. According to the diagnostic criteria of NINDS- SPSP, 2 patients were probable PSP and 5 were possible PSP. Conclusions PSP is a rare neurodegenerative disease occurring in elderly people. The clinical features of PSP are postural instability, falls, supranuclear gaze palsy, axial dystonia, pseudobulbar palsy, and dementia. The hummingbird sign and mouse ears sign on MR1 are the characteristic manifestations. It is usually misdiagnosed in the early stage. The diagnosis of PSP depends on the clinical features and the manifestations of MRI.