Raghad Alhajaji, Hamza O Dhafar, Muslim Mohammed Al Saadi, Ahmed S BaHammam
{"title":"Resilience Story of Managing Severe Obstructive Sleep Apnea With Hypoventilation Secondary to SELENON (SEPN1)-Related Myopathy.","authors":"Raghad Alhajaji, Hamza O Dhafar, Muslim Mohammed Al Saadi, Ahmed S BaHammam","doi":"10.1002/rcr2.70327","DOIUrl":null,"url":null,"abstract":"<p><p>SELENON-related myopathy is a rare autosomal recessive disorder characterised predominantly by muscle weakness; sleep-disordered breathing and respiratory failure are frequent complications. We report a 15-year-old male with genetically confirmed SELENON-RM and a 12-year history of progressive sleep-related breathing disorders, managed with overnight volume-targeted pressure support (VtPS) positive airway pressure (PAP) plus supplemental oxygen. Longitudinal polysomnography (PSG) revealed evolution from mild REM-predominant hypopneas to severe obstructive sleep apnea (OSA) with hypoventilation. Despite the elimination of apneas and hypopneas on bilevel positive airway pressure with spontaneous-timed mode (BPAP-ST), persistent desaturation occurred during REM sleep. Transitioning to VtPS nocturnal PAP combined with oxygen-corrected hypoventilation normalised oxygen saturation across all sleep stages and abolished respiratory events.</p>","PeriodicalId":45846,"journal":{"name":"Respirology Case Reports","volume":"13 8","pages":"e70327"},"PeriodicalIF":0.8000,"publicationDate":"2025-08-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12381645/pdf/","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Respirology Case Reports","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1002/rcr2.70327","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2025/8/1 0:00:00","PubModel":"eCollection","JCR":"Q4","JCRName":"RESPIRATORY SYSTEM","Score":null,"Total":0}
引用次数: 0
Abstract
SELENON-related myopathy is a rare autosomal recessive disorder characterised predominantly by muscle weakness; sleep-disordered breathing and respiratory failure are frequent complications. We report a 15-year-old male with genetically confirmed SELENON-RM and a 12-year history of progressive sleep-related breathing disorders, managed with overnight volume-targeted pressure support (VtPS) positive airway pressure (PAP) plus supplemental oxygen. Longitudinal polysomnography (PSG) revealed evolution from mild REM-predominant hypopneas to severe obstructive sleep apnea (OSA) with hypoventilation. Despite the elimination of apneas and hypopneas on bilevel positive airway pressure with spontaneous-timed mode (BPAP-ST), persistent desaturation occurred during REM sleep. Transitioning to VtPS nocturnal PAP combined with oxygen-corrected hypoventilation normalised oxygen saturation across all sleep stages and abolished respiratory events.
期刊介绍：
Respirology Case Reports is an open-access online journal dedicated to the publication of original clinical case reports, case series, clinical images and clinical videos in all fields of respiratory medicine. The Journal encourages the international exchange between clinicians and researchers of experiences in diagnosing and treating uncommon diseases or diseases with unusual presentations. All manuscripts are peer-reviewed through a streamlined process that aims at providing a rapid turnaround time from submission to publication.
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