Creutzfeldt-Jakob disease is a rare, fatal neurodegenerative disease, with an average annual mortality of all sporadic, genetic, and infectious acquired forms together in Canada is 1.47 per million per year (last 5 years).

While mostly gross brain abnormalities in CJD are minimal, and white matter abnormalities are hardly ever seen, panencephalopathic CJD (pCJD) is a very rare form of CJD where there is substantial atrophy with brain weights below 1,000 gram, and where white matter pathology is easily found.

Over the course of only 2 years 5 cases of pCJD were recognized within the Canadian CJD surveillance.

Currently there have been 47 cases of pCJD reported in literature. pCJD cases with a sporadic, genetic and iatrogenic background have all been described. Many of the patients in literature are of Japanese background, but not all. The only significant differences between these cases and other CJD cases are the relatively long disease duration (mean 24.5 month, compared to 6 month in all CJD cases) and the morphological findings. As yet there is no explanation for the occurrence of these cases in general, nor for this time-cluster in Canada.

These cases reinforce the message that MRI findings of severe brain atrophy and/or white matter pathology in patients with rapidly progressive neurological disease do not exclude CJD as diagnosis.

Conflictsof Interest:

None.