Clinical communicationCreutzfeldt-Jakob disease: An emergency department presentation of a rare disease
Introduction
Creutzfeldt-Jakob Disease (CJD) is the most common human transmissible spongiform encephalopathy but has an annual incidence of only 0.4–1.8 cases per million population worldwide (1). The disease occurs sporadically in up to 85% of cases with familial and acquired cases accounting for the remainder (2). The prognosis is dismal, with a mean of 8 months from onset to death. Due to the non-specific neurological and psychiatric complaints, the diagnosis is initially elusive. Recently, magnetic resonance imaging (MRI) has become a helpful adjunct in diagnosis; however, brain biopsy remains the definitive diagnostic test. This case report of a patient who presented to the Emergency Department (ED) on multiple occasions with progressive CJD details the symptoms, diagnostic testing, pathophysiology, and transmissibility of spongiform encephalopathies like bovine spongiform encephalopathy (BSE) and CJD.
Section snippets
Case report
A 46-year-old right-handed woman with no significant past medical history first presented to the ED for evaluation of a possible stroke. The patient had become ill one day earlier while traveling home from Florida, experiencing a sensation of floating, gait imbalance, and a general feeling of not being well. She had a vague sensation of numbness of both sides of her face and both hands, which was intermittent. On the morning of presentation, she developed difficulty with forming complex
Discussion
CJD is a universally fatal neurodegenerative disorder caused by prions (4). Prions are pathologically conformed proteins that are a product of partial physiologic proteolysis of cell membrane proteins. Abnormal isoforms of prions accumulate within neurons of the brain causing spongiform degeneration and disruption of function (5). Five human prion diseases have been described to date: kuru (a disease formerly transmitted through ritual cannibalism), Gerstmann-Straussler-Scheinker syndrome (a
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