Clinical communication
Creutzfeldt-Jakob disease: An emergency department presentation of a rare disease

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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.

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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