계명대학교 의학도서관 Repository

Fatal familial insomnia presenting with agrypnia excitata and very low atonia index level: A case report and literature review

Metadata Downloads
Author(s)
Tae-Won YangByeongsu ParkKeun Tae KimJin-Sun JunYoung-Soo KimSoon-Tae LeeKeun-Hwa JungKon ChuSang Kun LeeKi-Young Jung
Keimyung Author(s)
Kim, Keun Tae
Department
Dept. of Neurology (신경과학)
Journal Title
Medicine
Issued Date
2018
Volume
97
Issue
18
Keyword
agrypnia excitataatonia indexfatal 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
Keimyung Author(s)(Kor)
김근태
Publisher
School of Medicine (의과대학)
Citation
Tae-Won Yang et al. (2018). Fatal familial insomnia presenting with agrypnia excitata and very low atonia index level: A case report and literature review. Medicine, 97(18), e0646–e0646. doi: 10.1097/MD.0000000000010646
Type
Article
ISSN
0025-7974
DOI
10.1097/MD.0000000000010646
URI
https://kumel.medlib.dsmc.or.kr/handle/2015.oak/41255
Appears in Collections:
1. School of Medicine (의과대학) > Dept. of Neurology (신경과학)
공개 및 라이선스
  • 공개 구분공개
파일 목록

Items in Repository are protected by copyright, with all rights reserved, unless otherwise indicated.