SHM Converge Scientific Abstract ePoster Gallery-A Progressive and Puzzling Predicament of Dementia and Ataxia? Prions, Perhaps

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This case describes a 60-year-old woman with rheumatoid arthritis, depression, and hypothyroidism who developed progressive memory loss over four months, starting with minor forgetfulness and advancing to forgetting entire conversations. On neurologic exam, she had multidirectional nystagmus, bilateral dysmetria, impaired rapid alternating movements, a fine tremor, and a wide-based gait with swaying, suggesting cerebellar involvement.<br /><br />Her workup supported Creutzfeldt-Jakob disease (CJD), a rare prion disorder that typically causes rapidly progressive dementia. EEG showed nonspecific diffuse encephalopathy. MRI brain demonstrated diffusion abnormalities in the bilateral basal ganglia and right frontal cortex, with a classic “hockey-stick sign” involving the pulvinar and medial thalamus. CSF studies were negative for infection and syphilis, but 14-3-3 and total tau were markedly elevated, and RT-QuIC was positive, confirming prion disease.<br /><br />CJD often presents with rapidly progressive neuropsychiatric decline, cerebellar symptoms, extrapyramidal signs, and sometimes myoclonus. Most cases are sporadic, while a smaller proportion are inherited or transmissible. Prognosis is poor, with many patients dying within 12 months of symptom onset.<br /><br />The key takeaway is that hospitalists should consider CJD in patients with rapidly progressive dementia and neurologic deficits. Recommended evaluation includes neurology consultation, EEG, MRI with diffusion-weighted imaging, and lumbar puncture for CSF biomarkers including 14-3-3, tau, and RT-QuIC. Early recognition is important even though no cure exists, because timely diagnosis allows for supportive care and planning.

Asset Subtitle

Meghan Sebasky

Meta Tag

Author List Leah J. Howitt, Meghan Sebasky, Sandeep Segar

Category Clinical Vignettes

Concept Sporadic Creutzfeldt-Jakob Disease

Concept Rapidly Progressive Dementia

Concept Myoclonus

Concept RT-QuIC

Concept Prion Disease

Distinguished Non-Finalist

Presenter Organization UC San Diego

Presenting Author Meghan Sebasky

Track Adult

Keywords

Creutzfeldt-Jakob disease

rapidly progressive dementia

prion disorder

cerebellar signs

multidirectional nystagmus

basal ganglia MRI

pulvinar sign

CSF 14-3-3

RT-QuIC

neurology consultation

Sporadic Creutzfeldt-Jakob Disease

Rapidly Progressive Dementia

Myoclonus

RT-QuIC

Prion Disease