Open AccessObstructive sleep apnoea and hypoventilation in an adult with congenital myasthenic syndrome
Author(s) -
Haris Younas,
Ricardo H. Roda,
Jonathan C. Jun
Publication year - 2018
Publication title -
bmj case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.231
H-Index - 26
ISSN - 1757-790X
DOI - 10.1136/bcr-2018-226534
Subject(s) - medicine , hypoventilation , sleep (system call) , neurology , pediatrics , myasthenia gravis , congenital central hypoventilation syndrome , respiratory system , psychiatry , computer science , operating system
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.