Probable Creutzfeldt-Jakob Disease in a Resource-Limited Setting: A Case Report and Diagnostic Challenges

Abstract

Creutzfeldt-Jakob disease is a rare, transmissible, and invariably fatal spongiform encephalopathy caused by the accumulation of abnormal prion proteins in the central nervous system. We report the case of a middle-aged female patient from eastern Bolivia who presented with a six-month history of diplopia, progressive ataxia, generalized myoclonus, and rapidly progressive cognitive decline. A comprehensive diagnostic workup excluded infectious, metabolic, and autoimmune etiologies. Electroencephalography revealed periodic triphasic complexes, while brain magnetic resonance imaging demonstrated bilateral hyperintensities in the basal ganglia and cortical involvement, findings highly suggestive of Creutzfeldt-Jakob disease. According to the 2018 diagnostic criteria of the National Creutzfeldt-Jakob Disease Research & Surveillance Unit, the case was classified as probable prion disease. Neuropathological confirmation was not feasible due to logistical constraints. This case highlights the importance of considering prion diseases in the differential diagnosis of rapidly progressive dementias, particularly in low-resource settings where clinical assessment and neuroimaging play a central diagnostic role.