Congenital central hypoventilation syndrome and other causes of sleep-related hypoventilation in children
- Robert T Brouillette, MD
Robert T Brouillette, MD
- Professor and Associate Chair of Pediatrics
- McGill University, Montreal
Hypoventilation (ventilatory insufficiency) can result from disorders of the brain, spinal cord, nerves, muscles, heart, lungs, or airway. Sleep-related hypoventilation is a clinical pattern in which the ventilatory insufficiency occurs primarily during sleep. Affected individuals are at risk for hypoxemia and bradycardia because of the hypoventilation, and require continuous monitoring during sleep to monitor for these problems.
In children, the most common cause of hypoventilation during sleep is obstructive sleep apnea (OSA), which is discussed in separate topic reviews. (See "Evaluation of suspected obstructive sleep apnea in children" and "Management of obstructive sleep apnea in children".)
Non-obstructive sleep-related hypoventilation is much less common, and is usually due to one of several rare genetic or neurologic disorders of ventilatory control, especially congenital central hypoventilation syndrome (CCHS), late onset central hypoventilation syndrome (LO-CHS), or rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD) syndrome. These disorders will be discussed in this topic review.
●Hypoventilation refers to a mismatch between elimination of carbon dioxide (CO2) by the ventilatory apparatus and metabolic production of CO2. Conventionally, hypoventilation is defined as arterial blood gas partial pressure of CO2 (pCO2) above the normal levels of 35 to 45 mmHg in an awake patient. Hypoventilation is often, but not always, accompanied by hypoxemia. Clinicians may suspect hypoventilation on the basis of capillary or venous blood gas with unexplained elevations of CO2 (>50 mmHg) and bicarbonate (>25 mEq/L), or pulse oximetry with a baseline oxygen saturation <96 percent at rest.
●Sleep-related hypoventilation refers to hypoventilation that worsens or exclusively occurs during sleep. Because the hypoventilation tends to occur during daytime naps as well as during nocturnal sleep, the term "sleep-related hypoventilation" is preferred over "nocturnal hypoventilation." During sleep, withdrawal of the wakefulness drive to breathe allows a rise in pCO2 in the arterial blood (PaCO2) to as high as 50 mmHg in healthy individuals.
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- CONGENITAL CENTRAL HYPOVENTILATION SYNDROME
- - Genotypes
- - Inheritance
- - Molecular mechanisms
- Clinical features
- - Presentation
- - Abnormal ventilatory and arousal responses
- - Autonomic abnormalities
- - Ophthalmic abnormalities
- - Cognitive abnormalities
- - Neural crest derived tumors
- - Hirschsprung disease
- - Clinical evaluation
- - Molecular diagnosis
- - Ventilatory support
- - Monitoring and home care
- - Surveillance
- - Burden of illness, quality of life, and long-term outcome
- OTHER HYPOVENTILATION SYNDROMES
- Late-onset central hypoventilation syndrome (LO-CHS)
- Rapid-onset obesity with hypothalamic dysfunction (ROHHAD)
- OTHER CAUSES OF CENTRAL SLEEP APNEA
- SUMMARY AND RECOMMENDATIONS