Neuropsychological features of rapidly progressive dementia in a patient with an atypical presentation of Creutzfeldt-Jakob Disease.

BACKGROUND

Creutzfeldt-Jakob Disease (CJD) is a degenerative disease of the brain, characterized by rapid and irreversible decline, with dementia, ataxia, myoclonus, and other neurological and neurobehavioral disorders associated with rapidly progressive spongiform encephalopathy. The mode of transmission and basic pathomechanism remain unclear. The clinical picture of CJD is highly diverse, producing a number of variants.

MATERIAL AND METHODS

The patient to be described is a 68-year-old Polish female, JR, clinically diagnosed with CJD. The article presents the case history in detail, with particular emphasis on neuropsychological testing, which was initiated when the patient was still lucid and capable of cooperation. The first presenting symptom was agraphia, followed by hemianopsia and other vision disorders, culminating in visual hallucinations. As the progress of the disease accelerated there was rapidly progressive dementia, aphasia developing to organic mutism, myoclonus, hyperkinesia, ultimately loss of all verbal contact or voluntary movement.

RESULTS

JR's neuropsychological parameters declined in a period of less than 3 months from near normal to levels characteristic of severe dementia.

CONCLUSIONS

The clinical picture here presented is consistent with that of the Heidenhain variant of CJD, with spongiform encephalopathy beginning in the right occipital lobe. Several features of the case remain atypical, however, including the absence of the most common genetic mutation and the patient's long survival after onset.