To report a case of the Heidenhain variant of sporadic Creutzfeldt-Jakob disease (CJD), predominantly characterized by visual impairment at onset.

History-taking, ophthalmologic examination, neurologic examination, cerebrospinal fluid examination including 14-3-3 protein analysis, and brain MRI were performed in a 48-year-old man with progressive visual loss and a visual field defect. These symptoms were accompanied by visual illusion and macropsia. Neurologic examination revealed relatively rapidly progressing cognitive impairment, ataxia, aphasia, and myoclonus. The 14-3-3 protein was detectable in otherwise normal CSF samples. The diffusion weighted brain MRI showed increased signal intensity in both occipital lobes, the basal ganglia, the temporal and frontal lobes. He was clinically diagnosed as having a Heidenhain variant of sporadic CJD.

In a patient with a rapidly progressive visual loss, visual field defects, visual illusion, and neurologic abnormalities including progressive dementia, ataxia, aphasia, and myoclonus, the Heidenhain variant of CJD should be considered. Because prions, a cause of CJD, exhibit unusual resistance to conventional chemical and physical decontamination methods, it is necessary to have an appropriate management scheme to prevent the spread of infection.