title: Diagnostic challenges in Creutzfeldt-Jakob disease: case report.
abstract: Sporadic Creutzfeldt-Jakob disease (CJD) is the most common prion disease. The diagnosis can be confirmed only by histological examination of brain tissue obtained at biopsy or at autopsy. Because of the transmissible nature of the disease, autopsy or brain biopsy cannot be performed at many institutions, which poses numerous challenges in confirming the diagnosis. We report the case of a patient with CJD in which autopsy to confirm the diagnosis was performed after overcoming numerous obstacles and advocating with hospital leadership. This case illustrates the numerous challenges that exist in achieving a definitive diagnosis of CJD and in postmortem disposition of the body, and we provide recommendations to clinicians who face similar challenges.
mesh_terms: D000368:Aged; D001259:Ataxia / Q000209:etiology; D001344:Autopsy; D001706:Biopsy; D002555:Cerebrospinal Fluid / Q000737:chemistry; D003072:Cognition Disorders / Q000209:etiology; D003142:Communication; D007562:Creutzfeldt-Jakob Syndrome / Q000150:complications / Q000175:diagnosis* / Q000517:prevention & control / Q000635:transmission; D004569:Electroencephalography; D004615:Embalming; D005190:Family / Q000523:psychology; D017809:Fatal Outcome; D005260:Female; D006261:Headache / Q000209:etiology; D006801:Humans; D007118:Immunoassay; D017053:Infection Control; D008279:Magnetic Resonance Imaging; D011368:Professional-Family Relations; D016079:Refusal to Treat; D014012:Tinnitus / Q000209:etiology; D014055:Tomography, Emission-Computed; D014057:Tomography, X-Ray Computed