Creutzfeldt-Jakob disease

Case contributed by Ryan Thibodeau
Diagnosis certain

Presentation

Patient with progressive dementia and discoordination.

Patient Data

Age: 50 years
Gender: Female
mri

Diffusion-weighted imaging is notable for symmetric hyperintensity involving the corpus striatum including the caudate nucleus, lentiform nucleus, and globus pallidus.

Case Discussion

This is a case of Creutzfeldt-Jakob disease (CJD). There is restricted diffusion primarily of the corpus striatum. Clinically, the symptoms were suggestive of CJD, including rapidly progressive dementia. A lumbar puncture was performed and CSF was sent for analysis. Serology was positive for T tau protein (>4000 pg/mL; reference range 0-1149 pg/mL) and 14-3-3. Given these results, the estimated probability of prion disease was >98%.

Co-author:
Alannah McCann

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