Ondine's syndrome, also known as congenital central hypoventilation syndrome, is a rare genetic disease that affects the respiratory system. People with this syndrome breathe very lightly, especially during sleep, which causes a sudden decrease in the amount of oxygen and an increase in the amount of carbon dioxide in the blood.
In normal situations, the central nervous system would cause an automatic response in the body that would force the person to breathe more deeply or to wake up, however, who suffers from this syndrome has a change in the nervous system that prevents this automatic response. Thus, the lack of oxygen increases, putting life at risk.
So, to avoid serious consequences, anyone suffering from this syndrome should sleep with a device, called CPAP, which helps to breathe and prevents the lack of oxygen. In the most severe cases, this device may have to be used all day.
How to identify this syndrome
In most cases, the first symptoms of this syndrome appear shortly after birth and include:
- Breathing very light and weak after falling asleep; Blue skin and lips; Constant constipation; Sudden changes in heart rate and blood pressure
In addition, when it is not possible to control oxygen levels effectively, other problems may arise, such as changes in the eyes, delays in mental development, decreased sensitivity to pain or reduced body temperature due to low oxygen levels.
How to make the diagnosis
Usually the diagnosis of the disease is made through histories of signs and symptoms of the affected person. In these cases, the doctor confirms that there are no other heart or lung problems that may be causing the symptoms and, if this does not happen, makes the diagnosis of Ondine's syndrome.
However, if the doctor has doubts about the diagnosis, he can also order a genetic test to identify a genetic mutation that is present in all cases of this syndrome.
How the treatment is done
The treatment of Ondine's syndrome is usually done with the use of a device, known as CPAP, that helps breathing and prevents the pressure from not breathing, ensuring adequate levels of oxygen. Find out more about what this type of device is and how it works.
In the most severe cases, in which it is necessary to maintain ventilation with a device throughout the day, the doctor may suggest surgery to make a small cut in the throat, known as a tacheostomy, which allows you to have a device always connected more comfortably, without having to wear a mask, for example.
