Atypical features of dementia in a patient with Creutzfeldt-Jakob disease.

BACKGROUND: This article describes a Polish patient (female, right-handed, age 68 at onset) diagnosed with the Heidenhain variant of Creutzfeldt-Jakob Disease (HvCJD), characterized clinically by isolated visual disturbances with no ocular dysfunction prior to the development of myoclonus and other symptoms of CJD. CASE REPORT: Nothing in the history pointed to iatrogenic or acquired CJD, and genetic testing ruled out familial CJD. The neuroradiological picture (MRI) showed non-specific features of cerebral atrophy (cortical and subcortical). An EEG revealed periodic triphasic sharp waves, particularly in the occipital lobes, and myoclonus occurring synchronically with generalized periodic epileptiform discharges. Comprehensive neuropsychological testing documented rapidly progressive dementia, with dysgraphia and aphasia deteriorating to organic mutism. Post-mortem neuropathological examination confirmed spongiform encephalopathy, especially in occipital cortex, with amyloid plaques but without neurofibrillary tangles.
CONCLUSIONS: Over the crucial 6-week period the patient went from "Mild Cognitive Impairment" to a status resembling the final stages of Alzheimer's disease, without any evidence of a CVA. The only aspect of this case that does not fit the usual criteria for the Heidenhain variant is the fact that the patient survived over a year in a persistent vegetative state. Ophthalmologists and family physicians should be aware of the possibility of HvCJD in any patient over 60 presenting with otherwise inexplicable visual disturbances in the absence of significant ocular pathology, even when other symptoms of dementia may not be immediately noticeable.