Sporadic fatal insomnia in a young woman: A diagnostic challenge: Case Report


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.

DOI: 10.1186/1471-2377-11-136

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@inproceedings{Moody2011SporadicFI, title={Sporadic fatal insomnia in a young woman: A diagnostic challenge: Case Report}, author={Karen M Moody and Lawrence B. Schonberger and Ryan A. Maddox and Wen-Quan Zou and Laura Cracco and Ignazio Cali}, booktitle={BMC neurology}, year={2011} }