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

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 limited diagnostic infrastructure and surveillance capacity. We report what is, to the best of our knowledge, the first documented case of CJD in Ghana. This case highlights the importance of recognizing atypical neurodegenerative presentations and the critical role of neuroimaging in settings where access to advanced diagnostic tools is limited.

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 4-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. Electroencephalography revealed periodic sharp wave complexes and frontal intermittent rhythmic delta activity. Cerebrospinal fluid analysis was normal with negative viral testing. Based on clinical features and supportive investigations, a diagnosis of probable sporadic CJD was made in accordance with established diagnostic criteria.

This case highlights the diagnostic value of neuroimaging in suspected prion diseases and highlights the importance of recognizing probable CJD in resource-limited settings where access to confirmatory assays is limited. It also emphasizes the need for improved surveillance systems and diagnostic capacity, as additional unreported cases may exist.