SHM Converge Scientific Abstract ePoster Gallery-A Case of Sporadic Creutzfeldt-Jakob Disease Presenting With Vision Loss

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This case report describes a 63-year-old man who presented with two months of progressive vision loss followed by one month of diffuse myalgias, agitation, and behavioral changes. His history included diabetes, hypertension, and significant wildlife exposure through hunting and butchering rabbits and deer. Because of his outdoor exposures, the initial differential diagnosis focused on infectious, autoimmune, and toxic causes.<br /><br />Early evaluation was unrevealing. CT, MRI, EEG, and lumbar puncture were initially negative, and extensive testing for Lyme disease, HIV, tick-borne illnesses, arboviruses, meningitis/encephalitis, rabies, autoimmune encephalitis, heavy metals, and other infections was also negative. Clinically, his condition worsened with increasing agitation, aspiration, respiratory failure, and later myoclonic jerking. Repeat EEGs eventually showed periodic discharges, increasing suspicion for a prion disease despite the negative MRI.<br /><br />Ultimately, cerebrospinal fluid prion studies confirmed sporadic Creutzfeldt-Jakob disease (CJD). RT-QuIC, T-tau, and 14-3-3 gamma supported the diagnosis, with a high probability of prion disease. The case highlights that CJD can present with nonspecific symptoms, including prominent early visual symptoms consistent with the rare Heidenhain variant.<br /><br />The report emphasizes that although RT-QuIC has improved diagnostic accuracy, its turnaround time can delay diagnosis and lead to treatment of alternate causes while clinicians continue searching for explanations. CJD should remain in the differential diagnosis for patients with unexplained, rapidly progressive neurologic decline, even when early imaging and EEG are negative.

Asset Subtitle

Dustin Runzo

Meta Tag

Author List Amy Cecchini, Cayleigh Blumrick, Dustin Runzo, FNU Ayesha, John Bishop, Suna Horie, Tinatin Narsia, Will Colthorpe, Xian Qiao

Category Clinical Vignettes

Concept Sporadic Creutzfeldt-Jakob Disease

Concept Prion Disease

Concept RT-QuIC

Concept Rapid Progression

Concept Clinical Feature

Distinguished Non-Finalist

Presenter Organization Evms

Presenting Author Dustin Runzo

Track Adult

Keywords

Creutzfeldt-Jakob disease

sporadic CJD

Heidenhain variant

progressive vision loss

myalgias

agitation

behavioral changes

RT-QuIC

periodic EEG discharges

prion disease

Sporadic Creutzfeldt-Jakob Disease

Prion Disease

RT-QuIC

Rapid Progression

Clinical Feature