Central hypoventilation with PHOX2B expansion mutation presenting in adulthood

Barratt, S.; Kendrick, A. H.; Buchanan, F.; Whittle, A. T.
October 2007
Thorax;Oct2007, Vol. 62 Issue 10, p919
Academic Journal
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.


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