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).
It's almost 90% sporadic/spontaneously happens (which means there's underlying genetic risk factors +/- environmental factors + random chance).
But once it happens, it's transmissible. There're case reports of people getting it because their organ transplants were infected, but that is super rare. Nevertheless, that is why the extreme cleaning requirements are in place, among other precautions.
Thanks. This is obviously not my field (I'm an engineer) but very interesting!
https://www.msdmanuals.com/en-nz/home/brain,-spinal-cord,-and-nerve-disorders/prion-diseases/overview-of-prion-diseases
https://www.msdmanuals.com/en-nz/professional/neurologic-disorders/prion-diseases/overview-of-prion-diseases