Open AccessSleep‐related breathing disorders associated with the characteristics of underlying congenital rare diseases of Moebius syndrome and Poland syndrome
Author(s) -
Sugiyama Ai Inagaki,
Shiota Satomi,
Yamada Tomoko,
Ito Jun,
Suzuki Kazuhiro,
Takahashi Kazuhisa
Publication year - 2020
Publication title -
respirology case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.304
H-Index - 9
ISSN - 2051-3380
DOI - 10.1002/rcr2.579
Subject(s) - medicine , hypoventilation , positive airway pressure , paralysis , ventilation (architecture) , pediatrics , airway , sleep (system call) , obstructive sleep apnea , anesthesia , respiratory system , surgery , mechanical engineering , engineering , computer science , operating system
Abstract A 24‐year‐old woman was referred to us with daytime sleepiness. She has two congenital intractable and rare diseases, namely, Moebius syndrome and Poland syndrome. Physiological examinations and a detailed usage analysis under a ventilation device helped to conclude that hypoglossal nerve paralysis and thoracic deformity from her two underlying diseases were associated closely with her final diagnosis of obstructive sleep apnoea and sleep‐related hypoventilation due to medical disorders. Bilevel positive pressure ventilation with auto‐titrating expiratory positive airway pressure was effective. This is the first report that describes in detail the causal interactions between underlying two intractable and rare diseases and sleep‐related breathing disorders.