Children with DiGeorge syndrome are born with several abnormalities, including heart defects, underdeveloped or absent parathyroid glands, an underdeveloped or absent thymus gland, and characteristic facial features.
Doctors do blood tests, take a chest x-ray to look for and evaluate the thymus gland, and usually do echocardiography to check for heart defects.
If children have no T cells, transplantation of thymus tissue or stem cells is necessary to preserve life.
(See also Overview of Immunodeficiency Disorders.)
DiGeorge syndrome is a primary immunodeficiency disorder. Usually, it is due to a chromosomal abnormality, but it does not usually run in families. Most cases occur spontaneously, without any known reason. Boys and girls are equally affected.
The fetus does not develop normally, and abnormalities often occur in the following:
Heart: Children are often born with a congenital heart disorder (a heart defect present at birth).
Parathyroid gland: Children are usually born with underdeveloped or no parathyroid glands (which help regulate calcium levels in the blood). As a result, calcium levels are low, leading to muscle spasms (tetany). Spasms usually start within 48 hours after birth.
Face: Typically, children have characteristic facial features, with low-set ears, a small jawbone that recedes, and wide-set eyes. They may have a split in the roof of the mouth (cleft palate).
Thymus gland: The thymus gland is necessary for the normal development of T cells. Because this gland is missing or underdeveloped, the number of T cells is low, limiting their ability to fight many infections. Infections begin soon after birth and recur often. However, how well T cells function varies considerably. Also, T cells may spontaneously start functioning better.
The prognosis usually depends on the severity of the heart disorder.
Doctors suspect DiGeorge syndrome based on symptoms.
Blood tests are done for the following reasons:
A chest x-ray may be taken to check the size of the thymus gland.
Because DiGeorge syndrome often affects the heart, echocardiography is usually done. Echocardiography uses high-frequency sound (ultrasound) waves to produce images of the heart and thus can detect abnormalities in the heart's structure, such as a birth defect.
Genetic tests may be done to look for abnormalities.
For children who have some T cells, the immune system may function adequately without treatment. Infections that develop are treated promptly. Calcium and vitamin D supplements are given by mouth to prevent muscle spasms.
For children who have no T cells, the disorder is fatal unless transplantation of thymus tissue is done. Such transplantation can cure the immunodeficiency. Before the thymus tissue is transplanted, it is placed in a culture dish and treated to eliminate mature T cells. These cells may identify the recipient’s tissue as foreign and attack it, causing graft-versus-host disease. Alternatively, stem cell transplantation may be done.
Sometimes the heart disease is worse than the immunodeficiency, and surgery to prevent severe heart failure or death may be needed.
The following is an English-language resource that may be useful. Please note that THE MANUAL is not responsible for the content of this resource.
Immune Deficiency Foundation: DiGeorge syndrome: Comprehensive information on DiGeorge syndrome, including information on diagnosis and treatment and advice for people affected