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Ondine 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 trigger an automatic response in the body that would force the person to take a deep breath or wake up, however, those who suffer from this syndrome have an alteration in the nervous system that prevents this automatic response. In this way, the lack of oxygen increases, putting life at risk.
Thus, to avoid serious consequences, those who suffer from this syndrome must sleep with a device, called a CPAP, which helps to breathe and prevents the lack of oxygen. In the most severe cases, this device may have to be used throughout the day.
How to identify this syndrome
In most cases, the first symptoms of this syndrome appear shortly after birth and include:
- Very light and weak breathing after falling asleep;
- Blue skin and lips;
- Constant constipation;
- Sudden changes in heart rate and blood pressure
Furthermore, when it is not possible to control oxygen levels effectively, other problems can arise such as eye changes, delays in mental development, decreased sensitivity to pain or reduced body temperature due to low blood pressure. oxygen.
How to make the diagnosis
Usually the diagnosis of the disease is made through the history of signs and symptoms of the affected person. In these cases, the doctor confirms that there are no other heart or lung problems that could 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 still order a genetic test to identify a genetic mutation that is present in all cases of this syndrome.
How the treatment is done
Treatment of Ondine's syndrome is usually done with the use of a device, known as a CPAP, which helps breathing and prevents pressure from being breathless, ensuring adequate levels of oxygen. Learn more about what this type of device is and how it works.
In more serious 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 tracheostomy, which allows you to always have a device connected more comfortably, without having to wear a mask, for example.