Congenital Central Hypoventilation Syndrome

Congenital central hypoventilation syndrome (CCHS) is a rare and serious condition related to central sleep apnea, that can lead to respiratory arrest and death if left untreated. CCHS is sometimes also called Ondine’s Curse. This disorder is congenital and linked to the gene PHOX2B. In rare cases, this disorder could develop through serious brain or spinal trauma suffered later in life.

The disorder is extremely rare, affecting about 1 in 200,000 children born worldwide. The symptoms of this condition will likely be detected upon a typical examination after birth, but due to its rarity, often goes misdiagnosed. If the condition is misdiagnosed, and the child is not immediately placed on a respirator to facilitate breathing while asleep, the child will often not survive infancy. CCHS is considered a significant leading factor in many cases of sudden infant death syndrome.

Hypoventilation refers to an inadequate supply of ventilation needed for gas exchange, which leads to a build up of carbon dioxide in the blood stream and respiratory acidosis. It is extremely dangerous when coupled with sleep apnea, as it is in CCHS. Apneas are cases of stoppages in breathing, either through physical resistance, or in the case of CCHS, a lack of effort to breath. This is caused by the brain reacting slowly to changes in the levels of oxygen and carbon dioxide in the blood stream, leading to consistent under and over compensation in the form of short, quick breaths and stretches of no breathing at all. These long intervals without oxygen intake, which can last as long as 20 seconds, but in infants often last less than 10, lead to a build up of carbon dioxide, which can be fatal in conjunction with hypoventilation.

If irregular breathing or stoppages of breathing are detected in a child, doctors should be consulted immediately. If a sleep diary has been maintained for the child, this information will be important for the doctor to come to a diagnosis. The child will likely be put through a sleep study so breathing can be fully monitored as well as oxygen and carbon dioxide levels. A CAT scan may also be needed, which can look for abnormalities in the brain that may be causing the apneas. CCHS could also be caused by nerve damage, in which case a neurological specialist may also need to be consulted.

Patients may require tracheotomies and mechanical ventilation through a respirator to ensure survival, though rare cases of long undiagnosed and untreated CCHS survivors have been reported. This condition can also cause apneas while awake, and in some subjects, ventilation will be required at all times, not just while asleep.

Reviewed September, 2007

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