Differential diagnosis of Jakob-Creutzfeldt disease.

Authors:
Ross W Paterson
Ross W Paterson
Institute of Neurology
United Kingdom
Charles C Torres-Chae
Charles C Torres-Chae
University of California
Elizabeth A Nguyen
Elizabeth A Nguyen
University of California
Katherine Wong
Katherine Wong
The Queen Elizabeth Hospital NHS Foundation Trust
Stephen J Dearmond
Stephen J Dearmond
University of California San Francisco

Arch Neurol 2012 Dec;69(12):1578-82

Objectives: To identify the misdiagnoses of patients with sporadic Jakob-Creutzfeldt disease (sCJD) during the course of their disease and determine which medical specialties saw patients with sCJD prior to the correct diagnosis being made and at what point in the disease course a correct diagnosis was made.

Design: Retrospective medical record review.

Setting: A specialty referral center of a tertiary academic medical center.

Participants: One hundred sixty-three serial patients over a 5.5-year period who ultimately had pathologically proven sCJD. The study used the subset of 97 patients for whom we had adequate medical records.

Main Outcome Measures: Other diagnoses considered in the differential diagnosis and types of medical specialties assessing patients with sCJD.

Results: Ninety-seven subjects' records were used in the final analysis. The most common disease categories of misdiagnosis were neurodegenerative, autoimmune/paraneoplastic, infectious, and toxic/metabolic disorders. The most common individual misdiagnoses were viral encephalitis, paraneoplastic disorder, depression, vertigo, Alzheimer disease, stroke, unspecified dementia, central nervous system vasculitis, peripheral neuropathy, and Hashimoto encephalopathy. The physicians who most commonly made these misdiagnoses were primary care physicians and neurologists; in the 18% of patients who were diagnosed correctly at their first assessment, the diagnosis was almost always by a neurologist. The mean time from onset to diagnosis was 7.9 months, an average of two-thirds of the way through their disease course.

Conclusions: Diagnosis of sCJD is quite delayed. When evaluating patients with rapidly progressive dementia with suspected neurodegenerative, autoimmune, infectious, or toxic/metabolic etiology, sCJD should also be included in the differential diagnosis, and appropriate diagnostic tests, such as diffusion brain magnetic resonance imaging, should be considered. Primary care physicians and neurologists need improved training in sCJD diagnosis.

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Source
http://dx.doi.org/10.1001/2013.jamaneurol.79DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4401069PMC

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December 2012
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