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).

  • SomeoneElse@lemmy.world
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    1 year ago

    Alzheimer’s is awful but piron diseases (including CJD) are a different level of fucking terrifying imo.