Cureus. 2026 Aug 9;18(8):e114217. doi: 10.7759/cureus.114217. eCollection 2026 Aug.
ABSTRACT
Creutzfeldt-Jakob disease (CJD) is a rare, rapidly progressive, and invariably fatal prion disease whose early clinical features often overlap with more common neurological conditions, leading to diagnostic delay. The following case describes a 53-year-old man with a history of hyperlipidemia and hypothyroidism who presented with a two-day history of right-sided facial and extremity numbness, right lower extremity weakness, and myoclonus of the right upper extremity. Initial stroke workup, including computed tomography (CT) and magnetic resonance imaging (MRI) of the brain, was unremarkable. Cervical spine imaging revealed moderate-to-severe stenosis at C5-C6, raising concern for a structural etiology. Neurosurgical evaluation determined that the degree of cervical stenosis was unlikely to fully account for the patient's diffuse neurological symptoms. Nevertheless, the patient was discharged on corticosteroids with plans for close outpatient follow-up and further evaluation. Approximately two weeks later, he returned with progressive right-sided weakness, spasticity, dysarthria, and new-onset cognitive decline. Repeat neuroimaging remained unremarkable, and electroencephalography demonstrated nonspecific diffuse slowing. The patient subsequently underwent cervical decompression surgery without clinical improvement. His condition rapidly deteriorated, with worsening encephalopathy, prominent myoclonus, and complete loss of speech. Cerebrospinal fluid (CSF) analysis subsequently revealed positive real-time quaking-induced conversion (RT-QuIC), markedly elevated tau protein (>20,000 pg/mL), and elevated 14-3-3 protein, establishing a diagnosis of probable sporadic CJD. The patient continued to decline and expired following transition to comfort care. This case highlights the diagnostic challenge posed by CJD when confounding structural abnormalities are present and underscores the importance of early consideration of prion disease in the setting of rapidly progressive neurological decline with cognitive impairment.
PMID:42713555 | PMC:PMC13552816 | DOI:10.7759/cureus.114217