Fatal familial insomnia presenting with agrypnia excitata and very low atonia index level: A case report and literature review
- Affiliated Author(s)
- 김근태
- Alternative Author(s)
- Kim, Keun Tae
- Journal Title
- Medicine
- ISSN
- 0025-7974
- Issued Date
- 2018
- Keyword
- agrypnia excitata; atonia index; fatal familial insomnia
- Abstract
- Rationale: Fatal familial insomnia (FFI) is a human prion disease that is characterized by sleep-wake cycle deterioration, loss of
slow-wave sleep, and motor overactivation over the daily 24-hour period.
Patient concerns: Here, we report the case of a 57-year-old man who had an irregular sleep-wake cycle and exhibited frequent
movements and vocalizations during sleep.
Diagnoses: Video-polysomnography showed disrupted sleep structure, rapid alternation between sleep stages, and an absence
of sleep spindles and slow-wave sleep. Moreover, body movements persisted throughout the entire sleep period, including rapid eye
movement (REM) sleep. The atonia index was very low (<0.025) during REM sleep. Genetic testing revealed a prion protein gene
mutation at codon 178, and the patient was diagnosed with FFI.
Interventions: We tried to treat with amantadine, doxycycline, and immunotherapies, but the disease progressed.
Outcomes: Sleep disturbance is the most frequent and essential symptom of FFI.
Lessons: FFI is difficult to diagnose due to the low sensitivity of diagnostic tools. Diagnoses can be further supported by better
knowledge of typical polysomnographic findings.
Abbreviations: EMG = electromyography, FDG-PET = 18F-fludeoxyglucose positron emission tomography, FFI = fatal familial
insomnia, NREM = nonrapid eye movement, PRNP = prion protein gene, RBD = REM sleep behavioral disorder, REM = rapid eye
movement, RWA = rapid eye movement sleep without atonia, VPSG = video-polysomnography
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