SHM Converge Scientific Abstract ePoster Gallery-Unraveling the Diagnostic Dilemma: Creutzfeldt Jakob Disease Complicated by Concurrent Neurosyphilis

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This case report describes a 48-year-old man with encephalopathy whose diagnosis was complicated by concurrent neurosyphilis and ultimately confirmed Creutzfeldt-Jakob disease (CJD). The patient, with a history of schizophrenia, bipolar disorder, and methamphetamine use, was found unconscious with urinary incontinence and initially treated for toxic-metabolic encephalopathy due to sepsis from a urinary tract infection and multifocal pneumonia. However, his mental status worsened despite treatment.<br /><br />On exam, he developed expressive aphasia, Argyll Robertson pupils, and hyperreflexia. Infectious testing showed a positive RPR (1:64, later 1:128) and positive treponemal antibody, while CSF testing was positive for FTA-ABS, supporting neurosyphilis. He was treated with IV penicillin G, but his cognition did not improve.<br /><br />Brain MRI showed diffuse cortical ribboning and caudate diffusion abnormalities, findings concerning for CJD. Although EEG was unremarkable and RT-QuIC was indeterminate, CSF biomarkers were strongly supportive of prion disease, with markedly elevated 14-3-3 and tau protein. Based on the persistent rapid cognitive decline, MRI findings, and biomarker profile, CJD was diagnosed.<br /><br />The report emphasizes the diagnostic challenge of encephalopathy and the overlap between neurosyphilis and other neurologic disorders. Neurosyphilis can mimic many conditions, while CJD is a rare but fatal prion disease characterized by rapidly progressive dementia, myoclonus, and akinetic mutism. This case highlights the importance of a thorough, multidisciplinary workup when evaluating unexplained encephalopathy, especially when one diagnosis may confound recognition of another.

Asset Subtitle

Milvin Shroff

Meta Tag

Author List Catherine Wastella, Jachrise Sibblis, Milvin Shroff

Category Clinical Vignettes

Concept Creutzfeldt-Jakob Disease

Concept Progressive Dementia

Concept Neurosyphilis

Concept Myoclonus

Concept Akinetic Mutism

Distinguished Non-Finalist

Presenter Organization Cooper University Hospital

Presenting Author Milvin Shroff

Track Adult

Keywords

encephalopathy

neurosyphilis

Creutzfeldt-Jakob disease

CJD

rapidly progressive dementia

cortical ribboning

CSF biomarkers

14-3-3 protein

tau protein

prion disease

Creutzfeldt-Jakob Disease

Progressive Dementia

Neurosyphilis

Myoclonus

Akinetic Mutism