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. (copyright) 2011 Moody et al; licensee BioMed Central Ltd.
CITATION STYLE
K.M., M., L.B., S., R.A., M., W.-Q., Z., L., C., & I., C. (2011). Sporadic fatal insomnia in a young woman: A diagnostic challenge: Case Report. BMC Neurology, 11. Retrieved from http://www.embase.com/search/results?subaction=viewrecord&from=export&id=L51696098
Mendeley helps you to discover research relevant for your work.