Creutzfeldt-Jakob disease masked by head trauma and features of Wilson's disease

Abstract Creutzfeldt-Jakob disease (CJD) is a fatal neurodegenerative disorder typically characterized by progressive dementia associated with myoclonus, cerebellar and other focal neurological signs. Electroencephalogram (EEG), brain MRI, and 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 despite 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-hour urinary copper level and the 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 towards a diagnosis of CJD. She died 5 months after the onset and 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 to unclear laboratory findings.