Congenital central alveolar hypoventilation syndrome Save

Understanding Congenital Central Alveolar Hypoventilation Syndrome (CCHS)

Congenital Central Alveolar Hypoventilation Syndrome (CCHS) is a rare condition that affects the respiratory system of newborns. It is also known as Ondine's curse, named after a mythical character who was cursed to forget to breathe while sleeping.

Individuals with CCHS have a malfunctioning autonomic nervous system, which fails to control breathing during sleep. As a result, they experience shallow breathing or even stop breathing altogether, leading to low levels of oxygen in the blood (hypoxemia) and high levels of carbon dioxide (hypercapnia).

Symptoms

The symptoms of CCHS can range from mild to severe and may vary in each affected individual. Some of the common signs and symptoms include:

1. Difficulty breathing
2. Abnormal heart rate and rhythm
3. Blue or purple skin color (cyanosis)
4. Excessive sweating during sleep
5. Difficulty eating or swallowing
6. Delayed growth and development

Causes

CCHS is caused by a genetic mutation that affects the PHOX2B gene, which plays a crucial role in the development of the autonomic nervous system. The mutation leads to a malfunctioning of the system, which affects the control of breathing during sleep.

Diagnosis

CCHS is usually diagnosed during infancy or early childhood, based on the presence of symptoms and genetic testing that looks for mutations in the PHOX2B gene. The diagnosis may also include a sleep study (polysomnography) to evaluate breathing patterns during sleep.

Conclusion

CCHS is a rare condition that affects the respiratory system of newborns. It is caused by a genetic mutation that affects the control of breathing during sleep. Although the symptoms can be severe, early diagnosis and management can help improve the quality of life of affected individuals. If you suspect that your child may have CCHS, speak to your doctor immediately.