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Can CCHS also affect other organ systems?

Yes, because CCHS involves the Autonomic Nervous System (ANS) which controls automatic functions such as breathing, circulation, heart rhythm, activity of the gut, body temperature and sweating. So problems can be expected in the gut, heart, and the eyes. And also certain tumors can occur more frequently.


What are the most common gut disorders?
The most common gut disorders are Hirschsprung's disease, gastroesophageal reflux disease and other motility disorders like diarrhoea without infection or swallowing problems.

What is Hirschsprung's Disease?
Hirschsprung's disease, also called congenital aganglionic megacolon is caused by defective bowel nerves, The length of the affected bowel varies.

What is Gastro-oesophageal Reflux Disease
Gastroesophageal reflux disease (GERD) in children with CCHS is due to incompetence of the lower oesophageal sphincter, a ring-like muscle that tightens to prevent the passage of the stomach's contents back up into the gullet (oesophagus). If the barrier between oesophagus and stomach is not competent, gastric acid and other stomach contents reflux (flow backwards). This allows acid to inflamme the oesophagus and the larynx (vocal cords) and even allow aspiration of food into the lungs.
Symptoms are variable, including repeated vomiting or respiratory symptoms like coughing. Affected individuals may also feel pain including heartburn or be irritable. Treatment is medication that reduces acid production and if this is ineffective, surgical intervention is possible.

What are Motility disorders?
Some of the children with CCHS suffer from motility disorders in absence of Hirschsprungs disease. Usually the food is moved through the digestive tract by rhythmic contractions (peristalsis).
In the presence of motility disorders these contractions don't occur in a coordinated fashion. Symptoms could be e.g. difficulty swallowing, vomiting, nausea, constipation and diarrhoea. Most of these symptoms could be treated by medication, special food and training. But in some cases, e.g. if the child isn't able to swallow it is necessary to use a feeding tube for a while. Most of the children will learn to swallow when they get older.

update: 24/04/2011

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