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Internal medicine journal · Apr 2022
Case ReportsCan insomnia be fatal? An Australian case of fatal familial insomnia.
- Daniel Habteslassie, Marcus McMahon, and Hari Wimaleswaran.
- Department of Respiratory and Sleep Medicine, Austin Health, Melbourne, Victoria, Australia.
- Intern Med J. 2022 Apr 1; 52 (4): 667-670.
AbstractFatal familial insomnia (FFI) is a rare prion disease with autosomal dominant inheritance. Currently, there is only one published case study of FFI in Australia. FFI is universally fatal, with the disease duration ranging from 8 to 72 months. Clinically, it manifests with disordered sleep-wake cycle, dysautonomia, motor disturbances and neuropsychiatric disorders. We describe a case of FFI detailing the investigative process, including the importance of sleep assessment and polysomnography in obtaining a diagnosis.© 2022 Royal Australasian College of Physicians.
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