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. © 2011 Moody et al; licensee BioMed Central Ltd.
CITATION STYLE
Moody, K. M., Schonberger, L. B., Maddox, R. A., Zou, W. Q., Cracco, L., & Cali, I. (2011). Sporadic fatal insomnia in a young woman: A diagnostic challenge: Case Report. BMC Neurology, 11. https://doi.org/10.1186/1471-2377-11-136
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