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Central hypoventilation with PHOX2B expansion mutation presenting in adulthood

Department of Respiratory Medicine, Bristol Royal Infirmary, Bristol, UK

Correspondence to:
Correspondence to:
Dr A T Whittle
Department of Respiratory Medicine, Bristol Royal Infirmary, Bristol BS2 8HW, UK; adam.whittle{at}ubht.nhs.uk

Congenital central hypoventilation syndrome most commonly presents in neonates with sleep related hypoventilation; late onset cases have occurred up to the age of 10 years. It is associated with mutations in the PHOX2B gene, encoding a transcription factor involved in autonomic nervous system development. The case history is described of an adult who presented with chronic respiratory failure due to PHOX2B mutation-associated central hypoventilation and an impaired response to hypercapnia.

Abbreviations: ANS, autonomic nervous system; CCHS, congenital central hypoventilation syndrome; LOCHS, late onset central hypoventilation syndrome; NIV, non-invasive ventilation; SpO₂, oxygen saturation