Figure 3. Diffuse slowing of background activity. Bilateral periodic polyphasic sharp wave complexes, dominating in right frontal-temporal area.
The patient was diagnosed with probable sporadic CJD as she met the Centers for Disease Control and Prevention Diagnostic Criteria for probable sporadic Creutzfeldt-Jakob disease based on: 1) rapidly progressive dementia followed by development of myoclonus (hyperekplexia), extrapyramidal signs and akinetic mutism; 2) typical EEG findings of periodic sharp wave complexes; 3) brain MRI findings of diffusion restriction in multiple cortical regions (best seen in the right parietal and left parieto-occipital cortices), bilateral caudate nuclei, and anterior putamina; alternative diagnoses were excluded.
The patient was transferred to the palliative care unit 35 days following admission. Three months later she died of pulmonary embolism. Autopsy was carried out, and immunohistochemical examination demonstrated abnormal prion protein deposition in the acquired grey matter specimens (brainstem). The abnormal prion protein deposition was in the form of synaptic diffuse labelling without any micro-plaques or larger plaque-like deposits or filamentous labelling in the white matter. Histopathological changes were compatible with prion disease, confirming the diagnosis of definite CJD. For exclusion of a genetic form, genetic testing for mutations in the PRNP gene were warranted, but unfortunately could not be performed.