Obstructive sleep apnoea and hypoventilation in an adult with congenital myasthenic syndrome. (14th November 2018)

• Record Type: Journal Article
• Authors: Younas, Haris; Roda, Ricardo; Jun, Jonathan
• Is Part Of: BMJ case reports. Volume 2018
• Publication Date: 2018-11-14
• Subjects: mechanical ventilation -- respiratory system -- neuromuscular disease; Medicine -- Case studies -- Periodicals; 610.5
• DOI: 10.1136/bcr-2018-226534
• Languages: English
• ISSNs: 1757-790X

Abstract

Abstract : In this case report, we describe an adult male with congenital myasthenic syndrome due to mutations in muscle-specific receptor tyrosine kinase ( MuSK, c.79+2 T>G; IVS1 +2 T>G, c.2368 G>A, Val790Met) presenting with sleep apnoea and hypercapnic respiratory failure. In the intensive care unit, he required intubation followed by tracheostomy which resolved obstructive sleep apnoea. Later, due to persistent sleep-associated hypoventilation, he required nocturnal mechanical ventilation. His case illustrates how respiratory muscle weakness due to mutations in MuSK can lead to various forms of sleep disordered breathing.