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BMC Neurol. 2011 Oct 31;11:136. doi: 10.1186/1471-2377-11-136.

Sporadic fatal insomnia in a young woman: a diagnostic challenge: case report.

Author information

  • 1Texas Department of State Health Services, Austin, TX 78756-3199, USA. karen.moody@dshs.state.tx.us

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.

PMID:
22040318
[PubMed - indexed for MEDLINE]
PMCID:
PMC3214133
Free PMC Article

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