@article{7771edba19d147b6826de97e1399bdb4,
title = "Chronic hypercapnic respiratory failure in an adult patient with silver-russell syndrome",
abstract = "A 31-year-old woman who was clinically diagnosed with Silver-Russell syndrome (SRS) in childhood was admitted with complaints of dyspnea. She had hypercapnic respiratory failure accompanied by nocturnal hypoventilation. Computed tomography revealed systemic muscle atrophy and superior mesenteric artery syndrome; however, the bilateral lung fields were normal. She was treated with nocturnal noninvasive positive pressure ventilation and showed improvement of respiratory failure. In this case, loss of methylation on chromosome 11p15 and maternal uniparental disomy of chromosome 7, which are the common causes of SRS, were not detected. This is a rare case of adult SRS manifesting as chronic hypercapnic respiratory failure.",
keywords = "Hypercapnic respiratory failure, Nocturnal hypoventilation, Noninvasive positive pressure ventilation, Silver-Russell syndrome, Superior mesenteric artery syndrome",
author = "Mariko Hakamata and Satoshi Hokari and Yasuyoshi Ohshima and Masayo Kagami and Sakae Saito and Motoike, {Ikuko N.} and Taiki Abe and Nobumasa Aoki and Masachika Hayashi and Satoshi Watanabe and Toshiyuki Koya and Toshiaki Kikuchi",
note = "Funding Information: This work was supported by a KAKENHI Grant-in-Aid for Young Scientists [17K15824] from the Japan Society for the Promotion of Science (JSPS; to YO). Publisher Copyright: {\textcopyright} 2021 The Japanese Society of Internal Medicine.",
year = "2021",
doi = "10.2169/internalmedicine.5479-20",
language = "English",
volume = "60",
pages = "1921--1926",
journal = "Internal Medicine",
issn = "0918-2918",
publisher = "Japanese Society of Internal Medicine",
number = "12",
}