Article Text

Rare disease
Central hypoventilation with PHOX2B expansion mutation presenting in adulthood
  1. Shaney Barratt,
  2. Adrian Kendrick,
  3. Fiona Buchanan,
  4. Adam Whittle
  1. Bristol Royal Infirmary, Respiratory Medicine, Upper Maudlin Street, Bristol, BS2 8HW, UK
  1. adam.whittle{at}


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.

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  • Competing interests: None.