Med Int (Lond). 2025 Dec 1;6(1):4. doi: 10.3892/mi.2025.288. eCollection 2026 Jan-Feb.
ABSTRACT
Creutzfeldt-Jakob Disease (CJD) is a rare, rapidly progressive and fatal prion encephalopathy characterized by cognitive deterioration, motor dysfunction and myoclonus. The present study describes the case of a 55-year-old female patient with a history of controlled hypertension who presented with subacute cognitive decline, memory impairment, executive dysfunction and behavioral changes. Within weeks, her condition worsened with gait instability, upper limb dysmetria, ataxia and myoclonus, progressing to global dementia. An electroencephalography revealed periodic triphasic complexes at 1-2 Hz, brain magnetic resonance imaging revealed bilateral parieto-occipital cortical hyperintensities, and cerebrospinal fluid (CSF) analysis was positive for 14-3-3 protein, supporting the diagnosis of sporadic CJD (sCJD). The present case report illustrates a classical presentation of sCJD with a rapidly evolving clinical course. The integration of clinical features with electroencephalographic, neuroimaging and CSF biomarkers enabled a strong presumptive diagnosis. Despite the absence of curative treatment, early recognition remains essential to guide supportive management and avoid unnecessary interventions. Differential diagnosis with entities, such as autoimmune encephalitis and metabolic encephalopathies should be considered. In the case described herein, collaboration between psychiatry, neurology and palliative care ensured timely diagnosis and support.
PMID:41384000 | PMC:PMC12690276 | DOI:10.3892/mi.2025.288