Case report reveals successful management of severe obstructive sleep apnea with hypoventilation in a young patient, highlighting the role of polysomnography and positive airway pressure.
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.
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Alhajaji et al. (2025) studied this question.
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