Bekiesińska-Figatowska Monika, Kuczyńska-Zardzewiały Arleta, Pomianowska Barbara, Kajdana Katarzyna, Szpak Grażyna M, Iwanowska Beata, Mądzik Jarosław
Department of Diagnostic Imaging, Institute of Mother and Child, Warsaw, Poland.
Pol J Radiol. 2012 Jan;77(1):63-7. doi: 10.12659/pjr.882584.
Creutzfeldt-Jakob disease (CJD) is a rare progressive neurodegenerative disorder, caused by the deposition of the pathological isoform of prion protein PrPsc in the central nervous system. The classic triad of symptoms consists of: rapidly progressive dementia, myoclonus and typical electroencephalographic findings (intermittent rhythmic delta activity and periodic sharp wave complexes). Detection of 14-3-3 protein in the cerebrospinal fluid plays an important diagnostic role as well. Magnetic resonance (MR) images of the brain have been recently incorporated into the diagnostic criteria of sporadic Creutzfeldt-Jakob disease.
MR examinations were performed in a 65-year-old man and a 54-year-old woman with delusional disorder and cognitive dysfunction, respectively. Diffusion restriction (hyperintense signal in DWI) was shown in the cortex of the left parietal and occipital lobe in the first patient and symmetrically in the cortex of both cerebral hemispheres except for precentral gyri in the second one. In both cases, the first examinations were misread, with the suspicion of ischemic infarcts as the first differential diagnosis. Consultations and subsequent MR examinations in which lesions in subcortical nuclei appeared allowed for a diagnosis of probable CJD. In the first case it was confirmed by clinical picture, EEG and finally - autopsy. In the second case, EEG was not typical for CJD but the clinical course of the disease confirmed that diagnosis.
The authors present the cases of two patients with characteristic MR images that allowed early diagnosis of probable Creutzfeldt-Jakob disease before the characteristic clinical picture appeared. Early diagnosis is nowadays important for the prevention of disease transmission and in the future - hopefully - for early treatment.
克雅氏病（CJD）是一种罕见的进行性神经退行性疾病，由朊病毒蛋白PrPsc的病理异构体在中枢神经系统中的沉积引起。经典的三联征症状包括：快速进展性痴呆、肌阵挛和典型的脑电图表现（间歇性节律性δ活动和周期性尖波复合波）。脑脊液中14-3-3蛋白的检测也起着重要的诊断作用。脑部磁共振（MR）图像最近已被纳入散发性克雅氏病的诊断标准。
分别对一名65岁患有妄想障碍和认知功能障碍的男性以及一名54岁女性进行了MR检查。首例患者左侧顶叶和枕叶皮质出现弥散受限（DWI高信号），第二例患者除中央前回外，双侧大脑半球皮质对称出现弥散受限。在这两例中，首次检查均被误诊，最初的鉴别诊断怀疑为缺血性梗死。经会诊及随后的MR检查发现皮质下核团有病变，从而诊断为可能的CJD。第一例通过临床表现、脑电图最终经尸检得以确诊。第二例脑电图不符合CJD的典型表现，但疾病的临床过程证实了该诊断。
作者介绍了两名患者的病例，其特征性的MR图像使得在典型临床表现出现之前就早期诊断出可能的克雅氏病。如今，早期诊断对于预防疾病传播很重要，并且在未来有望实现早期治疗。
