Tsuboi Yoshio, Baba Yasuhiko, Doh-ura Katsumi, Imamura Akiko, Fujioka Shinsuke, Yamada Tatsuo
Fifth Department of Internal Medicine, Fukuoka University School of Medicine, 7-45-1 Nanakuma, Fukuoka 814-0180, Japan.
J Neurol Sci. 2005 May 15;232(1-2):45-9. doi: 10.1016/j.jns.2005.01.006.
Magnetic resonance imaging (MRI) with diffusion-weighted imaging (DWI) has been reported to be a useful tool for early diagnosis of sporadic Creutzfeldt-Jakob disease (CJD). We report MRI findings with DWI, as well as with fluid-attenuated inversion recovery (FLAIR) and T1-weighted imaging (T1WI), in a case of familial CJD with a mutation at codon 200 of the prion protein gene. DWI in this patient showed high signal intensity in the basal ganglia and the cerebral cortex, similar to findings in sporadic CJD. In addition, T1WI showed areas of high signal intensity bilaterally in the globus pallidus. Despite the clinical diversity and atypical laboratory findings seen in familial CJD with the codon 200 mutation, these neuroimaging studies suggest that common regional distributions and a common pathogenesis might underlie the clinical progression both in sporadic CJD and in familial CJD with the codon 200 mutation in the prion protein gene. DWI abnormalities may be characteristic features that should be considered in the diagnosis of familial as well as of sporadic CJD.
据报道，磁共振成像（MRI）结合弥散加权成像（DWI）是散发性克雅氏病（CJD）早期诊断的有用工具。我们报告了1例朊蛋白基因第200密码子发生突变的家族性CJD患者的MRI表现，包括DWI以及液体衰减反转恢复序列（FLAIR）和T1加权成像（T1WI）的表现。该患者的DWI显示基底节和大脑皮质呈高信号强度，与散发性CJD的表现相似。此外，T1WI显示双侧苍白球呈高信号强度区域。尽管在朊蛋白基因第200密码子突变的家族性CJD中存在临床多样性和非典型实验室检查结果，但这些神经影像学研究表明，散发性CJD和朊蛋白基因第200密码子突变的家族性CJD的临床进展可能具有共同的区域分布和共同的发病机制。DWI异常可能是家族性和散发性CJD诊断中应考虑的特征性表现。
