SHM Converge Scientific Abstract ePoster Gallery-Case Report of Creutzfeldt-Jakob Disease: Approach to Diagnosis and Management

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This case report describes Creutzfeldt-Jakob disease (CJD), a rare, fatal prion disorder that causes rapidly progressive dementia and death, often within a year of symptom onset. The patient was a 53-year-old man with chronic alcohol abuse, liver disease, anemia, prior intracranial hemorrhage, pancreatitis, and encephalopathy. He initially presented with alcohol intoxication, fatigue, hyperglycemia, and poor appetite, but during hospitalization developed memory loss, incoherent speech, incontinence, confabulation, and seizure-like episodes.<br /><br />Because his presentation could be explained by multiple hepatic and neurologic conditions, a broad differential diagnosis was considered. EEG showed bihemispheric dysfunction. Brain MRI demonstrated cortical ribboning in the left parietal region and increased FLAIR signal in the basal ganglia and thalamus, findings concerning for CJD. Lumbar puncture was performed, with CSF testing for 14-3-3 protein and RT-QuIC. RT-QuIC was indeterminate, but elevated 14-3-3 supported the diagnosis of CJD. His antiepileptic therapy was adjusted, and hospice/palliative care was initiated.<br /><br />The discussion reviews CJD pathophysiology and classification. Sporadic CJD is the most common form, while familial CJD is linked to PRNP gene mutations and variant CJD is associated with exposure to infected beef products and tends to occur in younger patients. Diagnostic support comes from MRI, CSF biomarkers such as 14-3-3 and RT-QuIC, and EEG, although brain biopsy is confirmatory but rarely necessary.<br /><br />The report emphasizes that CJD is often difficult to recognize because it can mimic more common neurologic and metabolic illnesses. Early suspicion, targeted testing, and timely transition to comfort-focused care are essential given the disease’s poor prognosis.

Asset Subtitle

Swati Gupta

Meta Tag

Author List Aman Sharma, Bruce Mayerson, Robert Courgi, Swati Gupta

Category Clinical Vignettes

Concept Creutzfeldt-Jakob Disease

Concept Prion Protein

Concept Spongiform Degeneration

Concept Rapidly Progressive Dementia

Concept Protein Misfolding

Distinguished Non-Finalist

Presenter Organization New York Institute of Technology College of Osteopathic Medicine

Presenting Author Swati Gupta

Track Adult

Keywords

Creutzfeldt-Jakob disease

prion disorder

rapidly progressive dementia

cortical ribboning

MRI basal ganglia

14-3-3 protein

RT-QuIC

EEG dysfunction

sporadic CJD

palliative care

Creutzfeldt-Jakob Disease

Prion Protein

Spongiform Degeneration

Rapidly Progressive Dementia

Protein Misfolding