Department of Diagnostic Imaging, National University Hospital.
Neurology (SGH Campus), National Neuroscience Institute, Singapore.
Clin Nucl Med. 2018 Aug;43(8):e274-e275. doi: 10.1097/RLU.0000000000002152.
A 57-year-old woman presented with a 3-month history of cognitive impairment, daytime somnolence, and violent sleep behavior. Her first- and second-degree relatives had similar symptoms prior to their premature deaths. Her MRI scan of the brain showed no significant abnormality. Electroencephalogram showed loss of slow-wave activity. Functional brain imaging performed with F-FDG PET was fused with her MRI scans. This demonstrated profound hypometabolism in bilateral thalami and the posterior cingulate cortex, which is pathognomonic for familial fatal insomnia. Hypometabolism in the temporal lobes suggests a long-standing course of the disease. Genetic testing confirmed a mutation of the prion-protein gene (PRNP).
一位 57 岁女性因认知障碍、白天嗜睡和睡眠行为异常就诊，这些症状已经持续了 3 个月。她的一级和二级亲属在早逝前也有类似的症状。她的脑部 MRI 扫描未见明显异常。脑电图显示慢波活动缺失。用 F-FDG PET 进行的功能性脑成像与她的 MRI 扫描融合。结果显示双侧丘脑和后扣带回代谢明显降低，这是家族性致死性失眠症的特征性表现。颞叶代谢降低提示疾病的长期病程。基因检测证实朊病毒蛋白基因 (PRNP) 发生突变。
