DiGeorge syndrome is a rare disease caused by a congenital defect in the thymus, parathyroid glands and aorta, which can be diagnosed during pregnancy. Depending on the degree of development of the syndrome, the doctor may classify it as partial, complete or transient.
This syndrome is characterized by changes in the long arm of chromosome 22, being, therefore, a genetic disease and whose signs and symptoms may vary according to the child, with small mouth, cleft palate, malformations and decreased hearing, for example., it is important that the diagnosis is made and the treatment started immediately to reduce the risk of complications for the child.
Main signs and symptoms
Children do not develop this disease in the same way, because the symptoms can vary according to genetic changes. However, the main symptoms and characteristics of the child with DiGeorge syndrome are:
- Bluish skin; Ears lower than normal; Small mouth, in the shape of a fish mouth; Stunted growth and development; Mental deficiency; Learning difficulties; Heart disorders; Problems related to food; Lower capacity of the immune system; Cleft palate; Absence of the thymus and parathyroid, in ultrasound exams; Malformations in the eyes; Deafness or severe hearing loss; Emergence of heart problems.
In addition, in some cases, this syndrome can also cause breathing problems, difficulty gaining weight, delayed speech, muscle spasms or frequent infections, such as tonsillitis or pneumonia, for example.
Most of these characteristics are visible soon after birth, but in some children the symptoms may become evident only a few years later, especially if the genetic change is very mild. Thus, if parents, teachers or family members identify any of the characteristics, consult the pediatrician who can confirm the diagnosis.
How the diagnosis is made
Usually the diagnosis of DiGeorge syndrome is made by a pediatrician by observing the characteristics of the disease. So, if he considers it necessary, the doctor can order diagnostic tests to identify if there are common cardiac changes of the syndrome.
However, in order to make a more correct diagnosis, a blood test, known as cytogenetics, can also be ordered, in which the presence of changes in chromosome 22, which is responsible for the onset of DiGeorge syndrome, is evaluated. Understand how the cytogenetics test is done.
Treatment for DiGeorge syndrome
The treatment of DiGeorge's syndrome starts immediately after diagnosis, which usually happens in the first days of the baby's life, still in the hospital. Treatment usually includes strengthening the immune system and calcium levels, because these changes can lead to infections or other serious health conditions.
Other options may also include surgery to correct the cleft palate and the use of medications for the heart, depending on the changes that have developed in the baby. There is still no cure for DiGeorge syndrome, but it is believed that the use of embryonic stem cells can cure the disease.
