Sporadic fatal insomnia in a young woman: A diagnostic challenge: Case Report
1 Texas Department of State Health Services, 1100 West 49th Street, Austin, Texas 78756-3199, USA
2 Centers for Disease Control and Prevention, Atlanta, Georgia, USA
3 National Prion Disease Surveillance Center, Case Western Reserve University, Cleveland, Ohio 44106-7288, USA
BMC Neurology 2011, 11:136 doi:10.1186/1471-2377-11-136Published: 31 October 2011
Sporadic fatal insomnia (sFI) and fatal familial insomnia (FFI) are rare human prion diseases.
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.
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.