SHM Converge Scientific Abstract ePoster Gallery-A Little Protein on the Brain: Case of Creutzfeldt-Jakob Disease

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This case report describes a 66-year-old woman with rapid cognitive decline who was ultimately diagnosed with Creutzfeldt-Jakob disease (CJD), a rare, fatal prion disorder. Her symptoms began with forgetfulness and progressed quickly to confusion, disorientation, impaired activities of daily living, naming difficulty, echolalia, perseveration, and subclinical seizures. Initial evaluation was unrevealing, including basic labs, thyroid studies, RPR, and SARS-CoV-2 testing. Brain MRI showed bilateral cortical diffusion restriction and FLAIR abnormalities. CSF studies were normal for cell count, protein, and glucose, but 14-3-3 protein was positive, tau was markedly elevated, and RT-QuIC was positive, supporting the diagnosis of CJD.<br /><br />The report reviews key features of CJD: it is caused by abnormal prion proteins that accumulate in neurons, leading to neuronal death and spongiform (vacuolar) brain changes without classic inflammation. CJD typically presents with rapidly progressive dementia, myoclonus, and seizures, and death usually occurs within a year. Worldwide incidence is about 1–1.5 per million people annually. Most cases are sporadic (about 85%), with smaller proportions being familial, variant, or iatrogenic.<br /><br />The authors also note evidence suggesting a possible association between certain surgical interventions and CJD transmission, though no direct causal link was established in this patient. She had a prior dental bone graft, which was mentioned as a potential historical exposure of interest.<br /><br />Because no disease-modifying treatment exists, management is supportive. The patient deteriorated rapidly despite antiepileptic therapy, was transitioned to hospice, and died less than three months after symptom onset. The case emphasizes the importance of considering CJD in patients with rapidly progressive dementia, as diagnosis can help guide prognosis and goals-of-care discussions.

Asset Subtitle

Yoo Mee Shin

Meta Tag

Author List Bashir Geer, Erica J. Han, Noble M. Maleque, Yoo Mee Shin

Category Clinical Vignettes

Concept Creutzfeldt-Jakob Disease

Concept Rapidly Progressive Dementia

Concept Prion Disease

Concept Myoclonus

Concept RT-QuIC

Distinguished Non-Finalist

Presenter Organization Emory University School of Medicine

Presenting Author Yoo Mee Shin

Track Adult

Keywords

Creutzfeldt-Jakob disease

rapidly progressive dementia

prion disorder

cortical diffusion restriction

14-3-3 protein

RT-QuIC

subclinical seizures

spongiform changes

dental bone graft

hospice care

Creutzfeldt-Jakob Disease

Rapidly Progressive Dementia

Prion Disease

Myoclonus

RT-QuIC