Creutzfeldt-Jakob Disease presenting with visual signs a case report

Abstract

Creutzfeldt-Jakob disease (CJD) is a rare and progressive neurodegenerative disease. Heidenhain variant of CJD presents with isolated visual sypmtoms which persists without any cognitive decline for a few weeks. Therefore it often causes misdiagnosis or delay in diagnosis. We report a case of Creutzfeldt-Jakob disease (CJD) with visual disturbances as the initial manifestation. Blurred vision, macropsia and homonymous hemianopia were the first symptoms/signs of the disease. Patient was consulted to the neurology department and diagnosed with the Heidenhain variant of CJD based on the clinical course and confirmed by positive assays of the cerebrospinal fluid for the 14-3-3 protein. In addition, the diagnosis was confirmed by the findings of diffusion-weighted magnetic resonance imaging. Although there is no effective treatment in CJD, early diagnosis is significant.