Obstructive sleep apnoea and hypoventilation in an adult with congenital myasthenic syndrome.
| Autor: | Younas H; School of Medicine, Johns Hopkins Hospital and Health System, Baltimore, Maryland, USA., Roda R; Johns Hopkins Hospital and Health System, Baltimore, Maryland, USA., Jun J; Johns Hopkins Hospital and Health System, Baltimore, Maryland, USA. |
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| Jazyk: | angličtina |
| Zdroj: | BMJ case reports [BMJ Case Rep] 2018 Nov 14; Vol. 2018. Date of Electronic Publication: 2018 Nov 14. |
| DOI: | 10.1136/bcr-2018-226534 |
| Abstrakt: | 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. Competing Interests: Competing interests: None declared. (© BMJ Publishing Group Limited 2018. No commercial re-use. See rights and permissions. Published by BMJ.) |
| Databáze: | MEDLINE |
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