A Case of Creutzfeldt-Jakob Disease with Concomitant Neurosyphilis

A 48-year-old man with a history of schizophrenia, bipolar disorder, spinal cord lipoma resection, retinal artery occlusion, alcohol use disorder, and methamphetamine use presented to the hospital after being found unresponsive at his house. On initial evaluation, he was inattentive, but oriented to self, time, and location, and was able to follow commands, speak fluently in short sentences, and had no focal deficits, aside from chronic lower extremity weakness and sensory loss related to his spinal cord lipoma. He was treated for a urinary tract infection however continued to have neurologic decline. An extensive neurological workup was conducted, which included multiple CT scans, three days of electroencephalogram (EEG), lumbar puncture and Magnetic Resonance Imaging (MRI) brain with and without contrast. Brain MRI showed diffusion weighted imaging (DWI) hyperintensities along the cortical ribbon of the temporal, parietal, and frontal lobes with intrinsic T1 hyperintense changes but no true contrast enhancement, as well as prominent medial temporal lobe DWI and T2/FLAIR hyperintensities. He was found to have a positive serum RPR at a titer of 1:64, positive serum treponemal antibody, and positive CSF VDRL at a titer of 1:8. CSF had a lymphocytic pleocytosis. Following a full course of intravenous Penicillin G 24 million units daily for 2 weeks for treatment of neurosyphilis, the patient showed signs of improvement, specifically in cognitive domains of attention and comprehension. However, one week later, his mentation worsened again. He developed agitation, mood swings, confabulation, and intermittent unresponsiveness. A second lumbar puncture revealed elevated 14-3-3 protein levels (41,897), T-Tau >20,000, and a positive RT-QuIC test, consistent with prion disease. A repeat brain MRI showed progressive cortical ribboning (figure), also consistent with a diagnosis of CJD. In practice, when faced with rapidly progressive dementia, clinicians should consider treatable etiologies such as neurosyphilis first but remain vigilant for co-pathologies if deterioration persists.