Archives of Disease in Childhood - Fetal and Neonatal Edition 2008;93:F400-F403
LEADING ARTICLES
Mask ventilation in the early management of congenital central hypoventilation syndrome
Department of Paediatrics, University Hospital of North Staffordshire, Stoke on Trent, UK
Dr M Samuels, Department of Paediatrics, University Hospital of North Staffordshire, Stoke on Trent, Staffordshire ST4 6QG, UK; samuels@doctors.org.uk
Accepted 8 July 2008
| The first 150 words of the full text of this article appear below. |
Congenital central hypoventilation syndrome (CCHS) is a rare disorder of breathing which is due to abnormal autonomic control; it is characterised by alveolar hypoventilation that is most marked during non rapid eye movement sleep.1 This condition has been linked to autonomic nervous system dysregulation, and affected children may manifest other autonomic abnormalities such as Hirschsprung’s disease. It usually arises as a new genetic mutation, but an autosomal dominant inheritance has been suggested in some cases.2 Although the first case was reported as early as 1970,3 delays still occur in diagnosis because of its rarity and poor recognition by paediatricians.
The diagnosis is usually made for an infant who remains ventilator-dependent by exclusion of neuromuscular, lung and cardiac problems. More recently, polyalanine expansion mutation of paired-like homeobox 2B (PHOX2B) genes located on chromosome 4p12 has been identified in >90% of affected children.2 Traditionally, as soon as the diagnosis is made, affected
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