Sporadic Creutzfeldt-Jakob disease (sCJD) is characterised by progressive dementia, ataxia and myoclonus. As clinical signs may overlap with other dementing or neurodegenerative disease, other criteria are used in diagnosis of CJD. ELectroencephalogram (EEG) and 14-3-3 protein immunoassay in cerebrospinal fluid (CSF) are highly sensitive and specific diagnostic criteria for probable sCJD disease premortem. Hyperintensities in basal ganglia is common finding in CJD, but of questioned specificity and sensitivity. Autopsy proven sporadic CJD presented by progressive dementia, ataxia and myoclonus is described. Negative 14-3-3 immunoassay along with nonspecific initial EEG which disclosed a bihemispheric slowly high-voltage spiky waves had strongly supported an alternative diagnosis to CJD. MRI has shown mild cortical atrophy, diffuse high signal intensity over white matter, periventricular abnormality and mild cortical atrophy, diffuse high signal intensity of basal ganglia. MR spectroscopy (MRS) are conductive to massive neuronal death. Phospho-tau/total-tau ratio separated CJD from other dementing or neurodegenerative illnesses. Results of the postmortem neuropathologic analysis, along with immunohistochemical verification of the diagnosis by an European center are presented. Described case suggest that rapidly progressive dementia with negative 14-3-3 test and non-specific initial EEG and MRI must still be considered in the differential diagnosis of sporadic CJD. By characteristic findings, we conclude that serial MRI and MRS studies in paralel phospho-tau/total-tau ratio is helpfull in differentiating CJD from other dementing illnesses.

Temeljne medicinske znanosti