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

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Author(s): Moody Karen | Schonberger Lawrence | Maddox Ryan | Zou Wen-Quan | Cracco Laura | Cali Ignazio

Journal: BMC Neurology
ISSN 1471-2377

Volume: 11;
Issue: 1;
Start page: 136;
Date: 2011;
Original page

ABSTRACT
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.
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