Sporadic Creutzfeldt–Jakob disease with extremely long 14‐year survival period

Background and purpose Sporadic Creutzfeldt–Jakob disease is a rapidly progressing and highly variable neurodegenerative disease with heterogeneous clinical presentation and a median survival time from diagnosis to death of 4–6 months. Methods We report a rare case of a 61‐year‐old woman with a history of initially rapidly progressive dementia, with subsequent development of pyramidal and extrapyramidal signs and with an unusually long survival period of 14 years. Initial magnetic resonance imaging evaluation, single‐photon emission computed tomography, and electroencephalogram did not show relevant alterations. Results The postmortem examination of the brain showed diffuse spongiform change, gliosis, and neuronal loss along with abnormal immunostaining of prion protein in the grey matter, especially in the cerebellum. Indirect PRNP genetic analysis was negative. Conclusions This case is, to our knowledge, the sporadic Creutzfeldt–Jakob disease patient with the longest survival period ever documented. This surprisingly long duration highlights the importance of histopathological confirmation with brain autopsies for suspected cases, as the disease can easily be misdiagnosed in such slowly progressing cases. Definitive evidence of sporadic Creutzfeldt‐Jakob disease in the patient with the longest survival ever reported. Photomicrographs of prion protein (PrP) accumulation in parahippocampal gyrus (a) and cerebellum (b). Staining with 3F4 anti‐prion protein monoclonal antibody.