Aristotle University, 1st Neurology clinic, AHEPA Hospital, Thessaloniki, Greece.
University of Thessaly, Volos, Greece.
Virol J. 2020 Mar 13;17(1):35. doi: 10.1186/s12985-020-01309-x.
To the best of our knowledgedd, there is currently no case in the literature reporting the comorbidity of Wilson's and Creutzfeldt-Jakob disease (CJD), linked through copper.
A 44-year-old male with a history of inherited Wilson's disease (hepatolenticular degeneration), which manifested as mild liver injury and psychiatric symptoms, was admitted to our department due to speech and cognitive disturbances. Upon his admission, he had motor aphasia as well as psychomotor retardation with an otherwise normal neurological examination. Laboratory tests, including liver enzymes, copper and serum ammonia were all within normal range. The brain MRI showed increased T2 signal in the caudate nuclei, attributed to copper deposition in the context of Wilson's disease. In the electroencephalogram, periodic sharp discharges were eminent, initially unilateral and then generalized. The positive 14-3-3 protein in the cerebrospinal fluid (CSF) and the new brain MRI, that demonstrated elevated DWI signal not only in the basal ganglia but also in parts of the cerebral cortex (cortical ribbon sign), all supportive of a possible CJD diagnosis. The detection of PrP in the patient's CSF, using the RT-QuIC method, which has a 99.4-100% specificity for CJD, made the diagnosis of CJD highly probable.
This is the first report of Wilson's and Creutzfeldt-Jakob diseases co-morbidity in the literature, which could evoke a possible role of copper in the pathogenesis of CJD.
据我们所知，目前尚无文献报道威尔逊病（肝豆状核变性）和克雅氏病（CJD）合并存在的病例，且两者与铜有关。
一名 44 岁男性，有遗传性威尔逊病（肝豆状核变性）病史，表现为轻度肝损伤和精神症状，因言语和认知障碍入住我科。入院时，他表现为运动性失语和精神运动迟缓，神经检查正常。实验室检查，包括肝酶、铜和血清氨均在正常范围内。脑部 MRI 显示尾状核 T2 信号增高，提示威尔逊病时铜沉积。脑电图显示周期性尖波放电明显，最初为单侧，然后为全身性。脑脊液（CSF）中存在阳性 14-3-3 蛋白，新的脑部 MRI 显示不仅基底节而且部分大脑皮层（皮质带状征）的 DWI 信号升高，所有这些都支持可能的 CJD 诊断。使用 RT-QuIC 方法检测患者 CSF 中的 PrP，该方法对 CJD 的特异性为 99.4-100%，使 CJD 的诊断极有可能。
这是文献中首次报道威尔逊病和克雅氏病合并存在的病例，这可能提示铜在 CJD 的发病机制中起可能的作用。
