First Case of Creutzfeldt-Jakob Disease in Ghana: Diagnostic Challenge in a Resource-Limited Setting

Introduction: Creutzfeldt-Jakob Disease (CJD) is a rare, but invariably fatal neurodegenerative disorder with multiple subtypes, region-specific prevalence patterns and significant underreporting, particularly in resource-limited settings due to lack of diagnostic infrastructure and surveillance capacity. We report the first documented case of Creutzfeldt-Jakob disease (CJD) in Ghana. This case highlights the importance of recognizing atypical neurodegenerative presentations and the critical role of neuroimaging in environs where access to advanced diagnostic tools is limited. Case Presentation: The patient was a 47-year-old previously healthy Ghanaian woman who developed sub-acute rapidly progressive global cognitive decline, motor incoordination, visual hallucinations, myoclonus, and eventually akinetic mutism over a four-month period. Initial evaluations, including routine metabolic and infectious panels, led to a misdiagnosis and treatment for acute ischemic stroke and neurosyphilis based on a positive syphilis test. Subsequent brain magnetic resonance imaging showed cortical ribboning and hyperintensity in the caudate nuclei, consistent with the pulvinar sign. Electroencephalography revealed periodic sharp wave complexes and frontal intermittent rhythmic delta activity. Cerebrospinal fluid analysis was normal with negative viral testing. The overall clinical progression and diagnostic findings were consistent with a diagnosis of sporadic Creutzfeldt-Jakob disease. Conclusion: This case emphasizes the critical diagnostic role of brain imaging in suspected prion diseases, particularly in resource-limited settings where access to specialized assays such as real-time quaking-induced conversion and 14-3-3 protein marker testing is largely unavailable. It also brings attention to the broader need for increased clinical awareness and improved diagnostic infrastructure to facilitate early detection and management of rare, rapidly progressive neurodegenerative disorders in low-resource regions.