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  • Title: Sporadic fatal insomnia in a young woman: a diagnostic challenge: case report.
    Author: Moody KM, Schonberger LB, Maddox RA, Zou WQ, Cracco L, Cali I.
    Journal: BMC Neurol; 2011 Oct 31; 11():136. PubMed ID: 22040318.
    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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