Disclosures: Eugene Palatulan, MD: No financial relationships or conflicts of interest

Case Description: A 65-year-old man with hypertension presented with progressive functional decline for two months with subacute paranoia, abulia, ataxia and myoclonus. Initial workup was unrevealing for autoimmune encephalitis or post-infectious cerebellitis. MRI revealed bilateral diffusion restriction and FLAIR hyperintensities in bilateral caudate, putamen, and pulvinar nuclei. Pan CT scan showed no malignancy. Patient was admitted to Acute Inpatient Rehabilitation (AIR) with impaired mobility notably max assistance x2 for bed transfers, ambulated 5 feet with extensive cueing limited by truncal ataxia. Neurological workup completed revealed positive lumbar puncture for 14-3-3 proteins and real-time quakin-induced conversion (Rt-QuIC) study making diagnosis of sporadic Creutzfeldt-Jakob disease (CJD) overwhelmingly positive. Patient’s rehab goal was modified to caregiver training/education (mechanical lift operation, etc.) with focus on maximizing quality of life through family involvement for functional mobility/ADLs. Rehabilitation medicine also played crucial role in facilitating interdisciplinary meetings with Neurology re-involvement and Palliative Care recruitment to discuss prognosis, advanced directives and goals of care.

Setting: Inpatient rehabilitation

Patient: see case description Assessment/

Results: see case description

Discussion: Creutzfeldt-Jakob disease is a neurodegenerative disorder under the umbrella of prion diseases with long incubation periods and progress inexorably once symptoms appear. CJD is extremely rare, approximately 1 case of sporadic CJD per 1,000,000 population per year detected by Rt-QuIC test. Prognosis is poor and there is no known effective treatment. Rehabilitation medicine plays crucial role in ensuring highest quality of life and function that patients get at their preferred discharge setting.

Conclusion: CJD is a rare neurodegenerative disease. It results in devastating outcome of mental deterioration, hypokinesia, myoclonus and cerebellar signs of nystagmus and ataxia. From onset of symptom to end is unrelenting and renders a fully functional and independent person to total dependence. Rehabilitation medicine plays crucial role in ensuring the highest quality of life and function for the patient through caregiver training and family education.

Level of Evidence: Level V

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PM&R Meeting Abstracts - https://pmrjabstracts.org/abstract/rehabilitation-of-a-patient-with-prions-disease/