CCHS
Congenital Central Hypoventilation Syndrome
Congenital Central Hypoventilation Syndrome
Congenital Central Hypoventilation Syndrome (CCHS)—also known as Ondine’s Syndrome—is a rare disorder that affects the autonomic nervous system (ANS). The ANS is what controls the automatic actions of the body that help it function, including breathing, digestion, and how often the heart beats. In cases of CCHS, a specific nerve—known as the phrenic nerve—does not receive a signal from the brain to take a breath. This results in low oxygen levels (Hypoxemia) and increased carbon dioxide levels (Hypercarbia) in the body, which may be fatal after a short period of time. (Source: NORD)
CCHS is a life-long disorder that is typically diagnosed at birth or during the newborn period when difficulty with breathing, Hypoxemia, and Hypercarbia is quickly identified. However, patients with a milder form of CCHS may go undiagnosed up into adolescence and adulthood, which is then referred to as late-onset CCHS (LO-CCHS).
CCHS patients with non-polyalanine repeat expansion mutations (NPARMs) of the PHOX2B gene have an increased chance of developing Hirschsprung disease. 3 Roughly 20% of the CCHS population will have this disease. Hirschsprung disease is categorized by abnormalities in the nerves controlling the digestive tract. Symptoms of Hirschprung disease include:
Swollen stomach, severe constipation, intestinal blockage, diarrhea, vomiting, chronic gas, enlargement of the colon 4
The combination of CCHS and Hirschsprung disease has been referred to as “Haddad Syndrome” by researchers. 5
A number of CCHS patients may also show rapid obesity between the ages of 1.5 to 10 years of age which indicates a rare disorder distinct from CCHS known as ROHHAD (Rapid-onset Obesity with Hypothalamic dysfunction, Hypoventilation, and Autonomic Dysregulation).1 The obesity experienced may further aggravate chronic artificial ventilatory issues. Affected children may also display behavioral problems if ventilatory support is inadequate. Gene investigations have not identified a molecular cause of ROHHAD yet. 2
Diagnosis of CCHS must be done by a licensed physician, especially with the severe nature of the condition and requirements for care. Studies have shown CCHS to be the result of a mutation in a specific gene known as PHOX2B that encourages the formation of neurons (nerve cells) and manages how they form. While this mutation may be inherited, in the majority of cases the mutation occurs within the affected patient and is not inherited from a parent.
CCHS is characterized by adequate ventilation while the patient is awake and by hypoventilation with shallow breathing during sleep. More severely affected patients hyperventilate when both awake and asleep. This is caused by the brain not sending a signal to the phrenic nerves (the neurological pathways between the brain and each hemidiaphragm, originating at the C3-C5 vertebrae).
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Ondine, a water nymph from German mythology, cursed her unfaithful husband “As long as you are awake, you shall have your breath, but should you ever fall asleep, then that breath will be taken from you and you will die!” From this ancient myth comes the name “Ondine’s Syndrome,” still used in certain parts of the world as a name for CCHS due to the difficulty of breathing during sleep.
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Weese-Mayer D, Rand C, Khaytin I, Slattery S, Yap K, Marazita M, Berry-Kravis E. Congenital Central Hypoventilation Syndrome. 2004 Jan 28 Online
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