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

We describe a patient who died of suspected heavy metal poisoning after a n ine-month history of rapidly worsening dementia. Autopsy at a forensic-path ological institute established the postmortem diagnosis of sporadic Creutzf eldt-Jakob disease (CJD) based on demonstration of the proteinase-resistant prion protein (PrPSc) in Western-Blot on native brain tissue. Microscopic examination of the macroscopically largely inconspicuous brain revealed mar ked spongiform changes in the gray matter-mainly affecting the cerebral cor tex, nucleus caudatus, and putamen-with confluent vacuoles. Patchy or periv acuolar deposits of PrPSc were found as well as granular PrPSc deposits. Th e cerebellum contained focal PrPSc deposits. There was an astrogliosis in t he white matter and a proliferation of microglia in the gray matter with a simultaneous clear reduction in neuronal elements. The differential diagnos is is discussed, as is the potential risk to those performing autopsy on fo rensic cases with a clinical picture of rapidly progressing dementia, espec ially in cases where a prion disease is not initially suspected.