Chronic hypercapnic respiratory failure in an adult patient with silver-russell syndrome

Mariko Hakamata, Satoshi Hokari, Yasuyoshi Ohshima, Masayo Kagami, Sakae Saito, Ikuko N. Motoike, Taiki Abe, Nobumasa Aoki, Masachika Hayashi, Satoshi Watanabe, Toshiyuki Koya, Toshiaki Kikuchi

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)1921-1926
Number of pages6
JournalInternal Medicine
Volume60
Issue number12
DOIs
Publication statusPublished - 2021

Keywords

  • Hypercapnic respiratory failure
  • Nocturnal hypoventilation
  • Noninvasive positive pressure ventilation
  • Silver-Russell syndrome
  • Superior mesenteric artery syndrome

ASJC Scopus subject areas

  • Internal Medicine

Fingerprint

Dive into the research topics of 'Chronic hypercapnic respiratory failure in an adult patient with silver-russell syndrome'. Together they form a unique fingerprint.

Cite this