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Case presentation:

A 57-year-old woman with breast carcinoma history, alcohol use disorder, and depression presented with paranoid delusions, memory impairment, and disorganized thinking. Initially admitted for psychosis, delirium tremens, and Wernicke-Korsakoff syndrome, her condition worsened, leading to a seizure. MRI showed abnormal diffusion in the brain, with continuous epileptiform discharges on EEG. Despite treatment attempts, including valproic acid and glycosamide, her symptoms persisted. Malignancy workup was negative, and suspicion turned to autoimmune encephalitis, but steroids yielded no improvement. Lumbar puncture ruled out other conditions. CSF samples sent to the National Prion Disease Pathology Surveillance Center, revealed RT—QuIC positivity, elevated T-tau (9114 pg/ml), and 14-3-3 protein, indicating a prion disease likelihood exceeding 98%.
With limited treatment options, care transitioned to comfort. Regrettably, the patient passed away one week later.

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CJD exhibits clinical heterogeneity, with rapid neuropsychiatric decline being the most common feature. It can be categorized as sporadic (the most prevalent form), genetic, or acquired. In this specific case, the patient, who was adopted, had a biological mother diagnosed with an unidentified psychiatric illness and committed to a long-term psychiatric facility. The specific type of CJD that our patient developed remains unclear. Magnetic resonance imaging (MRI) typically reveals hyperintense signals on DWI, FLAIR, and T2 images, affecting the cerebral cortex. The characteristic EEG pattern consists of bi/triphasic periodic sharp wave complexes. CSF testing for 14-3-3 protein & RT-QuIC (Real-Time Quaking-Induced Conversion) can aid in the diagnosis. Unfortunately, there is no medication proven to alter the course of the disease.

→Consider CJD as a possible diagnosis in patients exhibiting rapid neuropsychiatric decline, including paranoid delusions, memory impairment &  disorganized thinking.
→Utilize imaging tools like MRI with DWI, FLAIR, and T2 sequences to identify distinct patterns in the cerebral cortex.