Konno Shingo, Murata Mayumi, Toda Takahiro, Yoshii Yasuhiro, Nakazora Hiroshi, Nomoto Nobuatsu, Sugimoto Hideki, Nemoto Hiroshi, Wakata Nobuo, Fujioka Toshiki, Kurihara Teruyuki
Division of Neurology, Department of Internal Medicine, Toho University Ohashi Medical Center, Tokyo.
Intern Med. 2008;47(1):65-7. doi: 10.2169/internalmedicine.47.0307. Epub 2008 Jan 1.
The clinical features of familial Creutzfeldt-Jakob disease with a codon 200 point mutation [fCJD (E200K)] are similar to those of sporadic CJD (sCJD). MRI diffusion-weighted imaging (MRI-DWI) has been reported to be useful for the early diagnosis of CJD. We describe a Japanese fCJD (E200K) case in which thalamic symptoms were the initial manifestations. On admission, electroencephalography (ECG) showed no periodic synchronous discharge (PSD), and MRI showed no abnormalities. However, single photon emission computed tomography (SPECT) using (99m)Tc-ethyl cysteinate dimer ((99m)Tc-ECD) revealed hypoperfusion in the right thalamus. We conclude that the thalamic form of CJD tends to show no high-intensity area (HIA) by MRI-DWI, and that SPECT may be more useful for visualizing the affected area responsible for the thalamic symptoms at an early stage.
具有密码子200点突变的家族性克雅氏病[fCJD (E200K)]的临床特征与散发性克雅氏病(sCJD)相似。据报道，磁共振成像扩散加权成像(MRI-DWI)对克雅氏病的早期诊断有用。我们描述了一例日本fCJD (E200K)病例，该病例以丘脑症状为首发表现。入院时，脑电图(ECG)未显示周期性同步放电(PSD)，MRI也未显示异常。然而，使用(99m)Tc-乙基半胱氨酸二聚体((99m)Tc-ECD)的单光子发射计算机断层扫描(SPECT)显示右侧丘脑灌注不足。我们得出结论，丘脑型克雅氏病通过MRI-DWI往往不显示高强度区域(HIA)，而SPECT可能更有助于在早期可视化导致丘脑症状的受累区域。
