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Congenital Central Hypoventilation syndrome

Also known as: Central Hypoventilation syndrome, Ondine's

Background

Congenital central hypoventilation syndrome (CCHS) is a rare genetic condition which results in an abnormal development of the body's autonomic nervous system (which controls automatic functions like breathing) in early foetal life. The main consequence is a failure to automatically control breathing during sleep, and sometimes while awake.

Credits

Last updated July 2017 by Dr M Samuels, Consultant Respiratory Paediatrician, University Hospital of North Midlands, Stoke-on-Trent, and Great Ormond Street Hospital, London, UK.

Although great care has been taken in the compilation and preparation of all entries to ensure accuracy, we cannot accept responsibility for any errors or omissions. Any medical information is provided is for education/information purposes and is not designed to replace medical advice by a qualified medical professional.

What are the symptoms?

The main symptom is the person's inability to detect breathlessness and increase their breathing effort appropriately. The condition ranges in severity with some people being mildly affected during sleep and with normal breathing when awake, to others who have under-breathing both during sleep and when awake.

Children with CCHS may also have:

  • Hirschsprung's disease
  • 'blue-breath holding' episodes - where no breathing occurs for a time and the skin turns blueish
  • fainting episodes
  • epileptic or absence seizures (see entry Epilepsy)
  • heart rhythm disorders (see entry Heart Defects)
  • swallowing difficulties
  • learning difficulties (see entry Learning Disability)
  • eye problems, such as squints
  • unusual responses to anaesthestic
  • poor temperature control.

What are the causes?

CCHS is caused by a mutation (a change) in the PHOX2B gene. This mutation ultimately affects the autonomic nervous system, which is responsible for involuntary processes such as breathing and heart rhythm.

How is it diagnosed?

The diagnosis of CCHS is confirmed in over 90% of cases by finding the genetic change. In others, it relies on recording under-breathing from sensors that measure levels of oxygen and carbon dioxide (the body's waste gas).

How is it treated?

Treatment of CCHS involves providing assisted (mechanical) ventilation when the individual breathes inadequately on their own. No medication has been shown to sufficiently stimulate the breathing enough. The usual ventilator devices blow air into the lungs, through either a tracheostomy (a surgically created hole in the front of the neck), or a mask.  In cases needing ventilation during both the day and night, this is given through the tracheostomy or by surgically implanted breathing pacemakers (small devices delivering an electrical stimulus) that stimulate the nerves to the diaphragm, the main muscle involved in breathing.

Individuals with CCHS need regular monitoring of their oxygen levels with a sats monitor (pulse oximeter) and sometimes with a carbon dioxide monitor to identify inadequate ventilation. Giving additional oxygen alone would be inadequate treatment. Parents can be trained to look after a child's ventilation at home.

As children grow, their need for ventilation may change and so regular review is required. The condition is life-long, but most children do well, attend school and have a normal life while awake. Some children need bowel surgery or heart pacemakers for associated complications.

Inheritance patterns and prenatal diagnosis

Inheritance patterns
The mutation in the PHOX2B gene is passed to children in an autosomal dominant manner.

Prenatal diagnosis
This is possible if a PHOX2B mutation has been found in one of the parents. Samples of cells from a fetus can be collected during the pregnancy and tested for the mutation in the PHOX2B gene.

Is there support?

CCHS Support Group

Tel: 01362 696 509
Email: linda@cchssupport.co.uk
www.cchssupport.co.uk

The Group provides support for families affected by Congenital Central Hypoventilation Syndrome throughout the UK. It organises conferences for families to meet up and share experiences. These events are also an opportunity to invite CCHS physicians and researchers to share their insight on research and treatments. 

Group details last reviewed August 2017.

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