Rare disease
Central hypoventilation with PHOX2B expansion mutation presenting in adulthood
Bristol Royal Infirmary, Respiratory Medicine, Upper Maudlin Street, Bristol, BS2 8HW, UK
Correspondence to:
adam.whittle{at}UHBristol.nhs.uk
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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