Creutzfeldt-Jakob disease (CJD) in a case of suspected chronic heavy metal poisoning

We describe a patient who died of suspected heavy metal poisoning after a nine-month history of rapidly worsening dementia. Autopsy at a forensic-pathological institute established the postmortem diagnosis of sporadic Creutzfeldt-Jakob disease (CGD) based on demonstration of the proteinase-resistant prion protein (PrP^Sc) in Western-Blot on native brain tissue. Microscopic examination of the macroscopically largely inconspicuous brain revealed marked spongiform changes in the gray matter - mainly affecting the cerebral cortex, nucleus caudatus, and putamen - with confluent vacuoles. Patchy or perivacuolar deposits of PrP^Sc were found as well as granular PrP^Sc deposits. The cerebellum contained focal PrP^Sc deposits. There was an astrogliosis in the white matter and a proliferation of microglia in the gray matter with a simultaneous clear reduction in neuronal elements. The differential diagnosis is discussed, as is the potential risk to those performing autopsy on forensic cases with a clinical picture of rapidly progressing dementia, especially in cases where a prion disease is not initially suspected.