Tsuji Yoshihisa, Kanamori Hiroshi, Murakami Gaku, Yokode Masayuki, Mezaki Takahiro, Doh-ura Katsumi, Taniguchi Ken, Matsubayashi Kozo, Fukuyama Hidenao, Kita Toru, Tanaka Makoto
Department of Geriatric Medicine, Graduate School of Medicine, Kyoto University, 54 Shogoin Kawahara-cho, Sakyo-ku, Kyoto 606-8507, Japan.
J Neuroimaging. 2004 Jan;14(1):63-6.
Creutzfeldt-Jakob disease (CJD) is characterized by rapidly progressive dementia with a variety of neurological disorders and a fatal outcome. The authors present a case with visual disturbance as a leading symptom and rapid deterioration in global cognitive functions. The cerebrospinal fluid was positive for 14-3-3 protein, and diffusion-weighted magnetic resonance imaging (MRI) showed marked hyperintensity in the parieto-occipital cortices, where hypometabolism was clearly detected on positron emission tomography (PET). Pattern-reversal visual evoked potentials showed prolonged P100 latencies and increased N/5/P100 amplitudes. All these findings supported a diagnosis of the Heidenhain variant of CJD, whereas a long clinical course, a lack of myoclonus, and an absence of periodic synchronous discharges on electroencephalography were atypical. Diffusion-weighted MRI and PE1 in combination with visual evoked potential recording and 14-3-3 protein detection may be useful for the early diagnosis of CJD.
克雅氏病（CJD）的特征是快速进展的痴呆症，并伴有多种神经系统疾病，最终导致死亡。作者报告了一例以视觉障碍为主要症状且整体认知功能迅速恶化的病例。脑脊液14-3-3蛋白检测呈阳性，弥散加权磁共振成像（MRI）显示顶枕叶皮质明显高信号，正电子发射断层扫描（PET）清楚地检测到该区域代谢减低。图形翻转视觉诱发电位显示P100潜伏期延长，N/5/P100波幅增加。所有这些发现均支持Heidenhain变异型CJD的诊断，然而，其较长的临床病程、无肌阵挛以及脑电图无周期性同步放电并不典型。弥散加权MRI和PET，结合视觉诱发电位记录和14-3-3蛋白检测，可能有助于CJD的早期诊断。
