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BMC Neurology
Published in: BMC Neurology 1/2011

Open Access 01-12-2011 | Case report

Sporadic fatal insomnia in a young woman: A diagnostic challenge: Case Report

Authors: Karen M Moody, Lawrence B Schonberger, Ryan A Maddox, Wen-Quan Zou, Laura Cracco, Ignazio Cali

Published in: BMC Neurology | Issue 1/2011

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Abstract

Background

Sporadic fatal insomnia (sFI) and fatal familial insomnia (FFI) are rare human prion diseases.

Case Presentation

We report a case of a 33-year-old female who died of a prion disease for whom the diagnosis of sFI or FFI was not considered clinically. Following death of this patient, an interview with a close family member indicated the patient's illness included a major change in her sleep pattern, corroborating the reported autopsy diagnosis of sFI. Genetic tests identified no prion protein (PrP) gene mutation, but neuropathological examination and molecular study showed protease-resistant PrP (PrPres) in several brain regions and severe atrophy of the anterior-ventral and medial-dorsal thalamic nuclei similar to that described in FFI.

Conclusions

In patients with suspected prion disease, a characteristic change in sleep pattern can be an important clinical clue for identifying sFI or FFI; polysomnography (PSG), genetic analysis, and nuclear imaging may aid in diagnosis.
Appendix
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Metadata
Title
Sporadic fatal insomnia in a young woman: A diagnostic challenge: Case Report
Authors
Karen M Moody
Lawrence B Schonberger
Ryan A Maddox
Wen-Quan Zou
Laura Cracco
Ignazio Cali
Publication date
01-12-2011
Publisher
BioMed Central
Published in
BMC Neurology / Issue 1/2011
Electronic ISSN: 1471-2377
DOI
https://doi.org/10.1186/1471-2377-11-136

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