DiGeorge Syndrome (DGS)
DiGeorge Syndrome (DGS) is a genetic disorder. It is a form of primary immunodeficiency due to decreased T-cells resulting in an increased susceptibility to infection. In addition to the immune system being affected, DGS can result in altered facial features, thyroid abnormalities and cardiac issues. It impacts each person differently and is typically diagnosed at birth or shortly thereafter.
Symptoms of DGS
Symptoms as stated above include frequent infections. Facial characteristics can include low set ears, small chin, hooded eyelids and possibly a cleft palate, which can result in nasal-sounding speech. Frequently there are learning difficulties and other psychiatric disorders.
If DiGeorge Syndrome (DGS) is suspected based on the observation of multiple symptoms, there will be a genetic test which along with other tests and laboratory results can confirm diagnosis. These include T-cell count, computerized tomography (CT) scan of the thyroid, and an echocardiogram to look at the heart.
Treatment of DGS
Because DiGeorge Syndrome (DGS) truly affects each person differently, the treatment plan must be tailored to the individual and how they are presenting. Symptoms can be mild or severe and must be addressed accordingly. For example, depending on the T-cells, treatment may include observation and treating infections as they arise, or in severe cases, may be treated with a bone marrow transplant. Immune globulin therapy may or may not be part of the treatment plan and can be administered into the blood stream intravenously (IVIG) or under the skin subcutaneously (SCIG).
This content is not intended to substitute professional medical advice. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition.