title: Central hypoventilation with PHOX2B expansion mutation presenting in adulthood.
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.
authors.affiliation: Bristol Royal Infirmary, Respiratory Medicine, Upper Maudlin Street, Bristol, BS2 8HW, UK.
authors.forename: Shaney
authors.initials: S
authors.lastname: Barratt
authors.forename: Adrian
authors.initials: A
authors.lastname: Kendrick
authors.forename: Fiona
authors.initials: F
authors.lastname: Buchanan
authors.forename: Adam
authors.initials: A
authors.lastname: Whittle