Central hypoventilation with PHOX2B expansion mutation presenting in adulthood

Shaney Barratt, Adrian Kendrick, Fiona Buchanan, Adam Whittle

Research output: Contribution to journalArticle (Academic Journal)peer-review

Abstract

The case history is described of a 41 year old male who presented with acute-on-chronic respiratory failure due to PHOX2B mutation-associated central hypoventilation with a quantified impaired response to hypercapnia. He was successfully treated with non-invasive ventilation, which has been continued nocturnally at home.

Original languageEnglish
JournalBMJ Case Reports
Volume2009
DOIs
Publication statusPublished - 2009

Fingerprint Dive into the research topics of 'Central hypoventilation with PHOX2B expansion mutation presenting in adulthood'. Together they form a unique fingerprint.

Cite this