title: 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, 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.
authors.affiliation: 1Department of Cell Biology and Neurosciences, Istituto Superiore di Sanità, Rome, Italy.
authors.forename: Alessandra
authors.initials: A
authors.lastname: Scontrini
authors.forename: Carlo
authors.initials: C
authors.lastname: Di Bonaventura
authors.forename: Marco
authors.initials: M
authors.lastname: Fiorelli
authors.forename: Dorina
authors.initials: D
authors.lastname: Tiple
authors.forename: Elisa
authors.initials: E
authors.lastname: Colaizzo
authors.forename: Anna
authors.initials: A
authors.lastname: Ladogana
authors.forename: Piero
authors.initials: P
authors.lastname: Parchi
authors.forename: Maurizio
authors.initials: M
authors.lastname: Pocchiari
mesh_terms: D006259:Craniocerebral Trauma / Q000503:physiopathology*; D007562:Creutzfeldt-Jakob Syndrome / Q000175:diagnosis* / Q000503:physiopathology*; D005260:Female; D006527:Hepatolenticular Degeneration / Q000503:physiopathology*; D006801:Humans; D008279:Magnetic Resonance Imaging; D008875:Middle Aged; D011328:Prions / Q000378:metabolism
chemical_list: D011328:Prions
keywords: Creutzfeldt–Jakob disease; Wilson's disease; head injury; neurodegenerative disorders