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.