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Do CCHS patients often develop tumours?
No, but a few of the CCHS patients can develop tumours, which do not necessarily need to be dangerous.
The cells that transform and may build the tumours derive from nervous system cells. These cell bundles are called the neural crest. These tumours tend to present in early childhood.
Since the finding of specific changes in the genes of the CCHS patients, it has been found that not all patients have a high risk ever to develop a neural crest tumour
Especially those patients with longer Polyalanine repeat expansion mutations, which means 20/28 to 20/33 and those with missence, nonsense or frameshift mutations, need to be assessed more closely. For further information please see the leafelet on genetic findings.

What are the symptoms?
Often the patient stays without symptoms in early stages, however later presentation depends mainly on the location of the tumour. In the abdomen, a tumour mass may cause a swollen belly or constipation or even chronic diarrhoea. In the chest a tumour may cause breathing problems. By pressing on the spinal cord a tumour may cause weakness and thus an inability to stand, crawl, or walk, or voiding problems

How to find tumours?
The tumours produce substances that can be found in the blood (like neurone specific enolase) or in the urine (catecholamine). Different imaging methods can also be very helpful.

Can these tumours be treated?
Yes, however the therapy of neural crest derived tumours varies acording to their type, grade and location.
Surgery often is a choice and / or chemotherapy may be helpful. The therapy usually will be specific for the patient.


update: 24/04/2011

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