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Congenital Central Hypoventilation Syndrome

Description

Congenital central hypoventilation syndrome (CCHS) is a lifelong condition characterized by a failure to automatically breathe while asleep. Essentially, the body “forgets” to breathe, especially when asleep. If the condition is not caught in time, the results are often fatal, and often mistaken for SIDS. Infants with CCHS may additionally have breathing problems while awake along with an obvious lack of respiration when asleep. When properly treated, there are often marked improvements throughout childhood, leading many children with CCHS to lead fairly normal, active lives.

Diagnosis

An infant with CCHS will either have poor breathing or a lack of spontaneous breathing while asleep. This problem cannot be due to any other lung disease, muscle dysfunction, or sleep disorder. In addition, the child may have abnormal pupils, and may develop Hirschsprung Disease and/or acid reflux.

Treatment

Early detection and diagnosis of this condition is important to prevent complications caused by lack of oxygen. A respirator is often used to assist breathing. In addition, an implant can sometimes be put in the diaphragm muscle to electronically stimulate breathing.

Source: Adapted from International Classification of Sleep Disorders Diagnostic & Coding Manual, American Academy of Sleep Medicine.