The Southern Medical Journal (SMJ) is the official, peer-reviewed journal of the Southern Medical Association. It has a multidisciplinary and inter-professional focus that covers a broad range of topics relevant to physicians and other healthcare specialists.

SMJ // Article

Case Report

Diagnostic Challenges in Creutzfeldt-Jakob Disease: Case Report

Authors: Lal K. Tanwani, MD, Christian D. Furman, MD, Christine S. Ritchie, MD, MSPH

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.

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