Ondine's Curse Symptoms and Treatment

Severe form of sleep apnea requires nighttime mechanical respiration

A toddler boy sleeps on his back
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Breathing can sometimes be abnormal from birth. In a rare genetic condition, referred to as Ondine's curse, the breathing difficulty can be serious and even life-threatening. Explore some of the potential causes of Ondine's curse and how it can be effectively treated.

What Is Ondine's Curse?

Ondine’s curse—more appropriately known as congenital central hypoventilation syndrome or CCHS—is a rare, severe form of sleep apnea in which an individual completely stops breathing when falling asleep. It is usually congenital, meaning that it is present from birth. It may be noted in the neonatal unit after delivery. 

Central sleep apnea is characterized by the brainstem failing to prompt normal breathing. This seems to be due to a decreased responsiveness to high levels of carbon dioxide and low oxygen levels within the blood. This becomes especially dangerous during sleep.

Ondine’s curse is named after a mythical tale in which a heartbroken water nymph curses her unfaithful husband to stop breathing should he ever fall asleep. In medical terms, Ondine's curse represents an extreme form of sleep apnea.

Causes

Central hypoventilation affects about one in 30 million people, which means only several hundred people have it in the world. As such, it is considered to be an extremely rare condition. A genetic mutation appears to be the underlying cause. It is thought to occur when the brain fails to prompt breathing, as may also be seen in central sleep apnea.

This condition may be present from birth or it may develop after damage to the brainstem, which controls the drive to breathe. Central hypoventilation may be associated with difficulty swallowing, intestinal problems called Hirschsprung’s disease, or tumors called neuroblastoma.

Though the condition usually occurs sporadically, there may be a genetic tendency that runs in families. Relatives may have a milder form of dysfunction that affects the autonomic nervous system.

In 2003, the PHOX2B gene was identified as the disease-defining gene for CCHS, providing pathologists the means to definitively diagnose the disease and provide early treatment.

In about 10% of cases, other mutations at the same location are involved. Parents who wish to have additional children after having a child with CCHS are encouraged to seek genetic counseling.

Symptoms

Most affected individuals have an onset shortly after birth. It has been reported to start later, however, with even adult cases documented. Symptoms may be brought out in milder cases with the use of anesthesia or sedatives.

People with CCHS take shallow breaths (hypoventilate), especially during sleep, resulting in a shortage of oxygen and a buildup of carbon dioxide in the blood.

Reduced and shallow breathing is most apparent in non-REM sleep but can even occur during REM sleep or when fully awake, albeit to a lesser degree.

Other symptoms include acid reflux and poor upper gastrointestinal motility, manifesting with nausea, pain, dysgeusia (difficulty swallowing), and vomiting.

Treatment

Treatment involves the use of a mechanical ventilator connected to a tracheostomy tube in front of the throat. The ventilator ensures normal breathing whenever the person goes to sleep, even during naps. If this were not used, someone with CCHS could die anytime they fall asleep.

Reflux is often treated with medications, while poor upper gastrointestinal motility may often be managed with diet and altered eating habits.

Due to the nature of the treatment, families of those afflicted often become adept at managing the equipment required to maintain normal breathing. It may initially seem intimidating, but help within the hospital setting allows a smooth transition to treatment at home. Guidance from respiratory therapists, including at-home resources, can ease this adjustment.

A Word From Verywell

If you are interested in learning more about Ondine's curse, especially if you have an affected child, it is recommended that you consider a consultation with a pediatric pulmonologist at an academic medical center.

Due to the rarity of the condition, and the seriousness of the potential consequences, the care of a specialist will be initially required. It may also be possible to network with other affected families who are managing the condition. This social support may be helpful for many reasons. Reach out to get the help that you need from a specialist to optimize the health and well-being of your child and family.

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Article Sources

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  1. Weese-Mayer DE, Berry-Kravis EM, Zhou L, et al. Idiopathic congenital central hypoventilation syndrome: Analysis of genes pertinent to early autonomic nervous system embryologic development and identification of mutations in PHOX2bAm J Med Genet. 2003;123A(3):267-78. doi:10.1002/ajmg.a.20527


Additional Reading

  • Amiel J et al. "Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome." Nat Genet 2003;33(4):459-461.
  • Chen ML, Keens TG. "Congenital central hypoventilation syndrome: not just another rare disorder." Paediatr Respir Rev 2004;5(3):182-189.
  • Faraco J and Mignot E. "Genetics of Sleep and Sleep Disorders in Humans." In Principles and Practices of Sleep Medicine, Elsevier, 2011, pp. 93-94.