Central hypoventilation with PHOX2B expansion mutation presenting in adulthood

AUTOR(ES)

Barratt, S

FONTE

BMJ Group

RESUMO

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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