Children with CCHS develop life-threatening episodes of apnea with cyanosis, usually in the first months of life. Medical evaluation excludes lesions of the brain, heart, and lungs but demonstrates impaired responses to build-up of carbon dioxide (hypercapnia) and decreases of oxygen in the circulation (hypoxia), the two strongest stimuli to increase breathing rate. Polysomnography shows that<unk>  is most marked during slow-wave sleep. In the most severe cases,<unk>  is present during other nonrapid eye movement sleep stages and even wakefulness. A subset of CCHS patients are at very high risk for developing malignant neural crest-derived tumors, such as neuroblastoma. The sequence of PHOX2B reveals mutations in 91% of the cases. As in many disorders that are very rare, an infant with this unusual form of sleep apnea suffers from the probability that their physician has most likely never seen another case and will not recognize the diagnosis. In some locations, such as France, optimal management of patients, once identified, has been aided by the creation of a national registry and the formation of a network of centers.
Central hypoventilation syndrome
Obesity hypoventilation syndrome
Hyperventilation syndrome
Upper airway resistance syndrome
Sleep apnea
Reactive airway disease
Central sleep apnea
Cardiac asthma