Signs and Symptoms
- Respiratory arrests during sleep
- Darkening of skin color due to inadequate oxygen
- Drowsiness, fatigue, headaches, and insomnia
- Sensitivity to sedatives and narcotics, making respiration more difficult
Causes
- Congenital disorder, but can also result from severe brain or spinal trauma
- Associated with neurodegenerative conditions like Parkinson's disease or multiple sclerosis
- Some cases linked to chronic alcoholism
- Involvement of the PHOX2B gene in the development of neurons
- Formerly classified as a neurocristopathy, but now considered a disease of the neural tube
Diagnosis
- Life-threatening episodes of apnea with cyanosis in infants
- Impaired responses to hypercapnia and hypoxia
- Polysomnography shows hypoventilation during slow-wave sleep
- Some patients at high risk for developing neuroblastoma
- Genetic mutations in the PHOX2B gene found in a French cohort
Treatment
- Tracheostomy and lifetime mechanical ventilation required for survival
- Biphasic cuirass ventilation as an alternative to tracheotomy
- Oxygen therapy and respiratory stimulant medication may be used
- Extended use of ventilators can lead to infections and pneumonia
- Diaphragm pacing as an alternative to mechanical ventilation
Prognosis
- Most people with CCHS do not survive infancy without ventilatory assistance
- Late Onset CCHS has a different prognosis
- Prognosis improved with early diagnosis and management
- Prognosis varies depending on the severity and associated complications
Central hypoventilation syndrome (CHS) is a sleep-related breathing disorder that causes ineffective breathing, apnea, or respiratory arrest during sleep (and during wakefulness in severe cases). CHS can either be congenital (CCHS) or acquired (ACHS) later in life. The condition can be fatal if untreated. CCHS was once known as Ondine's curse.
| Central hypoventilation syndrome | |
|---|---|
| Other names | Ondine's curse, primary alveolar hypoventilation, alveolar hypoventilation secondary to neurologic disease, idiopathic acquired central hypoventilation syndrome |
 | |
| Ondine by John William Waterhouse (1849–1917) | |
| Specialty | Neurology  |
ACHS can develop as a result of severe injury or trauma to the brain or brainstem. Congenital cases are very rare and involve a failure of autonomic control of breathing. In 2006, there were only about 200 known cases worldwide. As of 2008, only 1000 total cases were known. The diagnosis may be delayed because of variations in the severity of the manifestations or lack of awareness in the medical community, particularly in milder cases. However, as there have been cases where asymptomatic family members also were found to have CCHS, it may be that these figures only reflect those found to require mechanical ventilation. In all cases, episodes of apnea occur in sleep, but in a few patients, at the most severe end of the spectrum, apnea also occurs while awake.
Although rare, cases of long-term untreated CCHS have been reported and are termed late onset CCHS (LO-CCHS). There have, however, even been cases of LO-CCHS where family members found to have it have been asymptomatic. Again, lack of awareness in the medical community may cause such a delay. CCHS susceptibility is not known to be affected by sex or race.
