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首页> 外文期刊>International Journal of Neuroscience >Creutzfeldt-Jakob disease masked by head trauma and features of Wilson's disease
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Creutzfeldt-Jakob disease masked by head trauma and features of Wilson's disease

机译：头部外伤掩盖的克雅氏病和威尔逊氏病的特征

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摘要

Creutzfeldt-Jakob disease (CJD) is a fatal neurodegenerative disorder typically characterized by progressive dementia associated with myoclonus, cerebellar and other focal neurological signs. Electroencephalogram, brain MRI and cerebrospinal fluid (CSF) analyses are helpful diagnostic tools, but diagnosis in patients with atypical presenting neurological signs is often difficult to make. A 55-year-old woman developed disorientation, drowsiness and focal motor signs after a traumatic brain injury due to an accidental fall. In two weeks, her symptoms worsened in spite of a brain MRI showed an improvement of traumatic lesions, but the presence of bilateral hyperintensity in the basal nuclei was suggestive of a metabolic or prion encephalopathy. The high 24-h urinary copper level and reduction of ceruloplasmin initially supported the diagnosis of Wilson's disease, but the absence of Kayser-Fleischer rings, and the positivity of 14-3-3 protein test and elevated tau concentrations in the CSF oriented toward a diagnosis of CJD. She died 5 months after the onset, and the postmortem examination of the brain revealed immunochemical features of CJD. This case exemplifies the difficulty of a timely diagnosis when rapid progressive dementia is masked by concomitant factors (i.e., head trauma) and neurological signs are associated with unclear laboratory findings.
机译：克雅氏病（CJD）是一种致命的神经退行性疾病，典型特征是与肌阵挛，小脑和其他局灶性神经系统症状有关的进行性痴呆。脑电图，脑MRI和脑脊液（CSF）分析是有用的诊断工具，但通常很难对具有非典型神经症状的患者进行诊断。一名55岁的妇女因意外跌倒导致脑部受伤后出现迷失方向，嗜睡和局灶性运动体征。在两周内，尽管进行了脑部MRI检查，她的症状仍然恶化，但创伤性病变有所改善，但是基底核中双侧高信号提示存在新陈代谢或病毒性脑病。高24小时尿铜水平和铜蓝蛋白的减少最初支持了威尔逊氏病的诊断，但缺乏Kayser-Fleischer环，CSF中14-3-3蛋白试验阳性和tau浓度升高的倾向克雅氏病的诊断。她在发病5个月后死亡，脑部验尸显示CJD的免疫化学特征。当快速进行性痴呆被伴随的因素（即头部外伤）掩盖并且神经系统症状与实验室发现不明确相关时，这种情况说明了及时诊断的困难。

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