66 year old with progressive cognitive and neurological decline, becoming catatonic within 2 months.
MRI DWI [1, 2, 3] shows cortical ribboning (cortex diffusion restriction [1]), and diffusion restriction in the deep gray nuclei and insula [2, 3] in a symmetric fashion.
MRI FLAIR [4] shows abnormal bright signal at the sites of diffusion restriction.
MRI postcontrast T1 [5] and SWI [6] are normal.
Based on the above findings, there was a strong suspicion this was something bad. A lumbar puncture was performed under appropriate infection control guidelines. Results showed positive CSF results for 14-3-3, T-tau protein, and RT-QuIC. The patient had already been discharged to a nursing facility when these results came back, so the nursing facility was notified as well as the public health department. The patient was placed on comfort care.
Final diagnosis: sporadic Creutzfeldt-Jakob disease (CJD).
https://www.msdmanuals.com/en-nz/home/brain,-spinal-cord,-and-nerve-disorders/prion-diseases/overview-of-prion-diseases