SHM Converge Scientific Abstract ePoster Gallery-When Hoofbeats Are Zebras: A Case-Report of Creutzfeldt Jakob Disease

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This case report describes a 61-year-old woman with a one-month history of progressive gait instability, confusion, erratic behavior, memory loss, hallucinations, and worsening motor symptoms. She initially presented after minor head trauma and was diagnosed with post-concussive syndrome, but her condition rapidly declined over the following weeks.<br /><br />Her exam showed ataxia, agitation, confabulation, bradykinesia, dystonia, and cogwheel rigidity, without focal neurologic deficits. Early workup, including CT imaging and broad laboratory testing for infectious, metabolic, toxic, and psychiatric causes, was unrevealing. An initial MRI was limited by motion artifact and appeared normal, and EEG could not be obtained. She was treated empirically for possible alcohol withdrawal and Wernicke encephalopathy.<br /><br />As her symptoms progressed, repeat MRI revealed diffuse T2 FLAIR hyperintensities and diffusion restriction in the caudate nuclei, putamen, insular cortex, mesial temporal lobes, medial thalami, and left precuneus—findings concerning for prion disease. CSF studies later showed markedly elevated T-tau, elevated 14-3-3 gamma, and a positive RT-QuIC, supporting a diagnosis of probable Creutzfeldt-Jakob disease (CJD). She became increasingly somnolent, lost eye tracking, developed urinary retention, and died in hospice about two months after initial emergency department presentation.<br /><br />The report emphasizes that CJD is a rare, rapidly progressive, and fatal neurodegenerative prion disease that often presents with nonspecific neurologic or psychiatric symptoms and is commonly a diagnosis of exclusion before death. It can mimic stroke, encephalitis, dementia, or metabolic/toxic encephalopathies. Key diagnostic tools include MRI, CSF biomarkers such as 14-3-3 and tau, and especially RT-QuIC, which has high sensitivity and specificity for prion disease.

Asset Subtitle

Cara E. Pearson

Meta Tag

Author List Bao Sciscent, Cara E. Pearson, Kayla Fresco, Ritesh Neupane

Category Clinical Vignettes

Concept Creutzfeldt-Jakob Disease

Concept Dementia

Concept Prion Disease

Concept Myoclonus

Concept MRI Cortical Diffusion Restriction

Distinguished Non-Finalist

Presenter Organization Penn State College of Medicine

Presenting Author Cara E. Pearson

Track Adult

Keywords

Creutzfeldt-Jakob disease

prion disease

rapidly progressive dementia

MRI diffusion restriction

CSF biomarkers

RT-QuIC

14-3-3 protein

elevated tau

ataxia and hallucinations

neurodegenerative disorder

Creutzfeldt-Jakob Disease

Dementia

Prion Disease

Myoclonus

MRI Cortical Diffusion Restriction