title: Creutzfeldt-Jakob disease: an emergency department presentation of a rare disease.
abstract: Creutzfeldt-Jakob Disease (CJD) is one of a group of neurodegenerative disorders causing spongiform encephalopathies. CJD is the most common human transmissible spongiform encephalopathy, or prion disease, but has an annual incidence of only 0.4-1.8 cases per million population worldwide. The prognosis for this disease is very poor and there is currently no cure. Patients typically present with non-specific neurological or psychiatric complaints and often have multiple physician visits before diagnosis, which requires histological examination of brain tissue. This patient had serial presentations to our Emergency Department, with progressive symptoms and multiple laboratory and radiological tests as well as consults, but her diagnosis remained unclear until her disease rapidly progressed and a brain biopsy was performed. With increasing concerns about prion diseases such as bovine spongiform encephalopathy (BSE)-or mad cow disease-and CJD, awareness of the symptoms and diagnostic challenges associated with these diseases will be helpful to emergency physicians.
authors.affiliation: Department of Emergency Medicine, SUNY Upstate Medical University, Syracuse, New York 13210, USA.
authors.forename: Louise A
authors.initials: LA
authors.lastname: Prince
authors.forename: Deborah
authors.initials: D
authors.lastname: Mann
authors.forename: Tracey
authors.initials: T
authors.lastname: Reilly
mesh_terms: D007562:Creutzfeldt-Jakob Syndrome / Q000175:diagnosis*; D003937:Diagnosis, Differential; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D018810:Magnetic Resonance Angiography; D008279:Magnetic Resonance Imaging; D008875:Middle Aged