title: Sporadic fatal insomnia in a young woman: a diagnostic challenge: case report.
abstract: BACKGROUND
  Sporadic fatal insomnia (sFI) and fatal familial insomnia (FFI) are rare human prion diseases.
  
  
  METHODS
  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.
authors: Texas Department of State Health Services, Austin, TX 78756-3199, USA. karen.moody@dshs.state.tx.us
authors: Karen M
authors: KM
authors: Moody
authors: Lawrence B
authors: LB
authors: Schonberger
authors: Ryan A
authors: RA
authors: Maddox
authors: Wen-Quan
authors: WQ
authors: Zou
authors: Laura
authors: L
authors: Cracco
authors: Ignazio
authors: I
authors: Cali
mesh_terms: D000328:Adult; D001284:Atrophy / Q000473:pathology; D001921:Brain / Q000378:metabolism / Q000473:pathology*; D005260:Female; D006801:Humans; D034062:Insomnia, Fatal Familial / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism / Q000473:pathology*; D009154:Mutation; D018620:PrPSc Proteins / Q000378:metabolism*; D011328:Prions / Q000235:genetics / Q000378:metabolism; D013787:Thalamic Nuclei / Q000473:pathology*
chemical_list: D018620:PrPSc Proteins; D011328:Prions