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Congenital Central Alveolar Hypoventilation Syndrome

What is it?

This is a rare problem that affects infants. It occurs when they either take small breaths or simply don’t breathe at all. Some infants have this happen only from time to time. Others have this problem all the time. Some babies breathe well when awake but then take smaller breaths while sleeping. This may cause their oxygen level to be too low. The lack of oxygen can put the baby at risk of death.

Who gets it?

This problem is always seen in infancy. People in all places in the world can have it. There are equal numbers of boys and girls who suffer from this breathing problem. There is also a gene called PHOX2B that seems to cause this problem.

How do I know if I have it?

Babies who do not breathe when they are born or have times where they stop breathing are at highest risk for having this problem. The doctor is often able to identify the problem at the time a baby is born. He or she will see that the baby is born with weak breathing or is not breathing at all. Then the doctor will quickly figure out whether the baby has this problem.

Do I need to see a sleep specialist?

Yes. Infants with this problem require a breathing machine. This is especially needed at night while sleeping. This breathing machine is called a mechanical ventilator. It is a kind of life support system.

A sleep specialist may be able to help the infant sleep better at night. A lung specialist may also be needed to figure out what kind of help a baby needs to breathe at night. This kind of doctor is called a pulmonologist. Babies with this problem may also need to see a nerve specialist or neurologist. These doctors can see if there is a problem with the brain or nerves that is causing the irregular breathing.

What will the doctor need to know?

The doctor will need a complete sleep and breathing history. In particular, the doctor will need all the details of how the infant breathes at night or while asleep. This history should cover the period from birth to the present time.

It is very important for the doctor to know of any periods when the child’s breathing clearly changes while asleep. Also be sure to tell the doctor if there where ever times when the baby stopped breathing. These details are extremely important for the doctor to know.

Will I need to take any tests?

Yes. The doctor may use a brain scan to look for any problem with the brain that might explain why the baby does not take breaths. This is called a CAT scan. The doctor may need a blood specimen from an artery to look at oxygen and carbon dioxide levels in the blood. This is called an arterial blood gas.

A sleep study may be done overnight while the baby sleeps. This will find any more information about abnormal breathing at night that might help explain the problem.

How is it treated?

The main treatment is a breathing machine called a mechanical ventilator. It breathes for a person and is a form of life support. Most infants with this problem require the breathing machine when they sleep. Without the breathing machine these people have very low oxygen levels, especially when sleeping.

Some babies with this problem need a breathing machine even when they are awake. During an illness as minor as diarrhea, infants with this problem may start breathing even worse. This may cause them to need a breathing machine even more than usual.

By David A. Kristo, MD
Updated November 28, 2005


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