SHM Converge Scientific Abstract ePoster Gallery-Perplexing Prion

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This case describes a 62-year-old woman with no major medical history who developed a rapidly progressive neurologic syndrome over 3 to 4 weeks, including generalized weakness, word-finding difficulty, blurred vision, left-sided weakness, and slurred speech. On exam, she had wide-based ataxic gait and sensory loss in both feet, but initial cranial nerve and motor testing were otherwise largely normal.<br /><br />Extensive early workup was unrevealing. CT angiography of the brain, neck, and cervical spine, as well as an initial brain MRI with and without contrast, were normal. As her condition worsened, she developed low-grade fever, dysphagia, became nonverbal, and had myoclonic jerking. Because the presentation could mimic infection, autoimmune disease, metabolic encephalopathy, or stroke, she underwent broad testing. Studies for infectious causes, autoimmune encephalopathy, metabolic deficiencies, endocrine disorders, and drug exposure were negative.<br /><br />Given the combination of rapidly progressive dementia, myoclonus, and continued decline, prion disease was considered. Repeat cerebrospinal fluid testing was strongly supportive, showing 14-3-3 protein positivity, RT-QuIC positivity, and markedly elevated T-tau (20,000 pg/mL), indicating a 98% likelihood of prion disease. A repeat MRI later showed faint cortical hyperintensity consistent with subacute spongiform encephalopathy (Creutzfeldt-Jakob disease). EEG also demonstrated lateralized periodic discharges.<br /><br />Despite diagnostic progression, the patient deteriorated clinically and was transitioned to hospice before prion results returned. She died shortly thereafter, and no autopsy was performed.<br /><br />The report highlights that Creutzfeldt-Jakob disease is the most common human prion disorder, typically presenting with rapidly progressive dementia, ataxia, and myoclonus. It emphasizes the importance of suspecting prion disease when standard evaluations fail to identify an explanation for rapidly worsening neurologic symptoms.

Asset Subtitle

Zachary Lahr

Meta Tag

Author List Pranali S. Pachika, Tissa Bijoy George, Vikas Singh, Zachary Lahr

Category Clinical Vignettes

Concept Creutzfeldt-Jakob Disease

Concept Rapidly Progressive Dementia

Concept Prion Disease

Concept PrPSc

Concept Ataxia

Distinguished Non-Finalist

Presenter Organization Upmc McKeesport

Presenting Author Zachary Lahr

Track Adult

Keywords

Creutzfeldt-Jakob disease

prion disease

rapidly progressive dementia

myoclonus

ataxia

14-3-3 protein

RT-QuIC

elevated T-tau

EEG periodic discharges

neurologic syndrome

Creutzfeldt-Jakob Disease

Rapidly Progressive Dementia

Prion Disease

PrPSc

Ataxia