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Congenital Central Hypoventilation syndrome
What are the symptoms?
Some babies do not breathe at birth and need assisted ventilation in the delivery room and on the neonatal or special care baby unit. Many of these infants may not breathe at all during the first few months of life, but may mature to a better pattern of breathing when awake, with under-breathing or stopping breathing persisting during sleep. Sometimes it is thought that babies may have a congenital heart problem when they first present, because the low oxygen levels caused by inadequate breathing in CCHS leads to high blood pressure in the lungs, which places strain on the heart which may lead to heart failure.
Some infants present solely because of an observation by a parent or health professional that the baby appears to often stop breathing. If this is severe, needing vigorous stimulation or resuscitation to bring recovery, this is termed an 'apparent life threatening event'. It is known that some children may not present until a few months or years of age, because they have a very mild form of the condition.
Children with CCHS may also present with:
Rarely, Neuroblastomas and ganglioneuromas - abnormal growths of nerve cells alongside the spine - may present. These need surgery and treatment if malignant.
Background
| How is it diagnosed? 
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