The Great Imitator Meets the Rapid Terminator: Coexistence of Neurosyphilis and Creutzfeldt-Jakob Disease Presenting as Rapidly Progressive Dementia
Nishtha Gupta1, Michael Hehir2, Khalil Ali3
1University of Vermont Medical Center, 2Larner College of Medicine at the University of Vermont, 3Central Vermont Medical Center
Objective:
Present a rare case of simultaneous neurosyphilis and Creutzfeldt-Jakob disease (CJD)
Background:
Rapidly progressive dementia is defined as cognitive deterioration within months to years. While neurosyphilis is a treatable cause, often presenting decades after initial infection with general paresis or tabes dorsalis, CJD is a prion disease characterized by rapid decline, myoclonus, and death within one year of onset. Co-existing neurosyphilis and CJD is exceptionally rare, with only a handful of cases reported in the literature.
Results:
A 60-year-old male with history of alcohol use disorder presented nine years after initial penile lesion. He experienced seven months of prodromal symptoms with lightheadedness, nausea, fatigue, and brain fog. Two months prior to presentation, he experienced acute decline (severe cognitive decline, dysarthria, weight loss, and ataxia). Initially treated as Wernicke’s encephalopathy. At time of presentation, he exhibited episodic rhythmic right-hand flexion and involuntary saccades to the right, perseveration, aphasia, horizontal nystagmus, Argyll Robertson pupils, broad-based gait, and startle myoclonus.
MRI demonstrated asymmetric cortical ribboning along the left hemisphere on diffusion-weighted imaging. EEG revealed lateralized periodic discharges, maximally over the left frontocentral region (F3>F7>C3). Lumbar puncture showed lymphocytic pleocytosis. Syphilis serology was positive in serum (RPR titer 1:256) and CSF (VDRL 1:32, IgG index 8). Five days later, CSF RT-QuIC returned positive (t-Tau/p-Tau ratio 220, total-Tau 4198), supporting a diagnosis of CJD. Limited improvement after five days of intravenous penicillin G. He was discharged to hospice, passing away four days later. Pending autopsy.
Conclusions:
To our knowledge, only two to three other similar cases with co-existing neurosyphilis and CJD have been reported, with diagnostic uncertainty in most. This rare case confirms both diagnoses with definitive biomarkers (CSF VDRL 1:32, RT-QuIC positive) and classic CJD imaging. This case highlights avoiding diagnostic anchoring, as one diagnosis does not exclude co-existing pathologies.
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