SHM Converge Scientific Abstract ePoster Gallery-A Quic Stop of the Music

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This case describes a 70-year-old man with HIV and chronic kidney disease who developed rapidly progressive right-sided weakness, tremor, slurred speech, and cerebellar signs over three weeks. Initial CT head, labs, and toxicology were unrevealing, but his symptoms quickly worsened to confusion, dysphagia, multifocal myoclonus, and progressive weakness.<br /><br />The presentation raised concern for Creutzfeldt-Jakob disease (CJD), a rare, fatal prion disorder caused by misfolded proteins. CJD should be suspected in patients with rapidly progressive dementia or neurologic decline, especially when accompanied by movement abnormalities such as ataxia, tremor, myoclonus, or weakness. Sporadic CJD is the most common form, usually affecting adults aged 45–75.<br /><br />MRI and EEG are important in evaluation. MRI in CJD often shows cortical ribboning, though similar findings can occur with prolonged seizures, making EEG useful to exclude seizure activity. CSF testing may show elevated 14-3-3 protein, though it is not fully specific. RT-QuIC is a highly useful test because it has high specificity and strong sensitivity for detecting prion disease.<br /><br />In this case, CSF showed elevated neuron-specific enolase, and RT-QuIC returned positive. MRI demonstrated cortical ribboning, and EEG showed periodic complexes without seizure activity. Based on the rapid clinical course and positive RT-QuIC, he met criteria for probable sporadic CJD. He deteriorated rapidly, was transitioned to comfort care, and died shortly thereafter. Brain autopsy confirmed sporadic CJD.<br /><br />Key teaching points: consider CJD in rapidly progressive neurologic syndromes, obtain a careful family history to assess for genetic prion disease, and use MRI, EEG, and CSF testing—especially RT-QuIC—to support diagnosis. There is currently no effective treatment, and most patients die within one year.

Asset Subtitle

Tianyu Chen

Meta Tag

Author List Tianyu Chen

Category Clinical Vignettes

Concept Creutzfeldt-Jakob Disease

Concept Rapidly Progressive Dementia

Concept Myoclonus

Concept Cortical Ribboning

Concept 14-3-3 Protein Assay

Distinguished Non-Finalist

Presenter Organization Ucsf

Presenting Author Tianyu Chen

Track Adult

Keywords

Creutzfeldt-Jakob disease

prion disorder

rapidly progressive dementia

cortical ribboning

RT-QuIC

myoclonus

cerebellar signs

MRI

EEG

sporadic CJD

Creutzfeldt-Jakob Disease

Rapidly Progressive Dementia

Myoclonus

Cortical Ribboning

14-3-3 Protein Assay