Nitrini Ricardo, Areza-Fegyveres Renata, Martins Vilma R, Castro Rosa Maria R P S, Landemberger Michele C, Huang Nancy, Bacheschi Luiz A, Bacheschi Luiz E, Leite Cláudia C, Buchpiguel Carlos A, Rosemberg Sérgio
Hospital das Clínicas, School of Medicine, University of São Paulo, São Paulo, SP, Brazil.
Arq Neuropsiquiatr. 2005 Jun;63(2B):519-22. doi: 10.1590/s0004-282x2005000300028. Epub 2005 Jul 25.
High signal in the cerebral cortex and/or basal ganglia on diffusion-weighted magnetic resonance imaging (DW-MRI) has been described as a good diagnostic marker for sporadic Creutzfeldt-Jakob disease (sCJD). We report a case of sCJD with atypical clinical evolution and unusual DW-MRI findings. A 53-year-old man was seen with a 2-year history of a rapidly progressive dementia and cerebellar ataxia. Cerebrospinal fluid analysis, including the test for 14-3-3 protein, was normal. EEG did not show periodic activity. However, DW-MRI showed gyriform hyperintensity involving practically the entire cortical ribbon of the left hemisphere, whilst being limited to the posterior cingulate gyrus in the right hemisphere. DNA analysis showed no mutations or insertions in the prion protein gene, and homozigozity for methionine in codon 129. A subsequent brain biopsy confirmed the diagnosis of CJD. Thus, high signal on DW-MRI may be limited to the cerebral cortex and may present a very asymmetric distribution in sCJD.
扩散加权磁共振成像（DW-MRI）显示大脑皮质和/或基底神经节高信号已被描述为散发性克雅氏病（sCJD）的良好诊断标志物。我们报告一例具有非典型临床病程和不寻常DW-MRI表现的sCJD病例。一名53岁男性，有2年快速进展性痴呆和小脑共济失调病史。脑脊液分析，包括14-3-3蛋白检测，结果正常。脑电图未显示周期性活动。然而，DW-MRI显示脑回样高信号，几乎累及左半球整个皮质带，而右半球仅限于后扣带回。DNA分析显示朊蛋白基因无突变或插入，密码子129为甲硫氨酸纯合子。随后的脑活检确诊为CJD。因此，DW-MRI上的高信号可能仅限于大脑皮质，且在sCJD中可能呈现非常不对称的分布。
