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Mask ventilation in the early management of congenital central hypoventilation syndrome
  1. Pavanasam Ramesh,
  2. Phillipa Boit,
  3. Martin Samuels
  1. Department of Paediatrics, University Hospital of North Staffordshire, Stoke on Trent, UK
  1. Dr M Samuels, Department of Paediatrics, University Hospital of North Staffordshire, Stoke on Trent, Staffordshire ST4 6QG, UK; samuels{at}

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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 infants undergo tracheostomy to facilitate long-term invasive ventilatory support.4 These children tend to stay in hospital for several months after the initial diagnosis in order to optimise ventilatory support and while awaiting organisation of appropriate community care. Home support includes provision of qualified nurses or trained carers to look after the children, especially those being invasively ventilated via tracheostomy. Children need life-long ventilatory support in the community, usually only at night, but in the most severe cases 24 h/day. The condition therefore has a considerable impact on resources.

The paediatric department at the University Hospital of North Staffordshire, Stoke on Trent has one of a small number of paediatric sleep study centres in the UK and manages children with a wide range of sleep-related breathing disorders, including CCHS. In recent years, 15 children with CCHS with a variety of ventilatory support systems such as intermittent …

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  • Competing interests: None.

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