- Abnormal facial development, including an underdeveloped chin and low set ears
- Heart defects, ranging from mild to severe
- Immune system deficiency, including an underdeveloped or absent thymus gland
- Parathyroid gland abnormalities, resulting in low blood calcium
- Other problems such as cleft palate or difficulty speaking and swallowing
Ranges from mild to severe
A child may be only mildly affected by DiGeorge syndrome, or may have severe medical problems such as heart disease or lack of a thymus gland. Even with treatment, these severely affected children may not live more than a few years.
Diagnosis
Diagnosis is usually made on the basis of symptoms present at birth or within the first few weeks of life. Some children have the syndrome’s distinctive facial characteristics. Others may have low blood calcium, or symptoms of a heart defect such as a heart murmur. If DiGeorge syndrome is suspected, these tests may be helpful:
- Blood tests to evaluate the immune system
- Blood tests for low calcium
- Chest x-ray to look at the heart and thymus
- Cardiac catheterization to examine the heart closely
- Genetic studies to look for the Chromosome 22 problem
Treatment
There is no cure for DiGeorge syndrome, but there are many effective treatments. Calcium and Vitamin D supplements raise blood calcium; medications and/or surgery can correct heart defects. Sometimes as the child grows his thymus gland grows and is able to provide adequate immune protection.
Thymus transplant
Duke University Medical Center physicians are using an experimental thymus tissue transplantation procedure to help those children with DiGeorge syndrome (about 25%) who lack a thymus gland. When heart surgery is done on a newborn child, part of the thymus gland is removed for the operation. The Duke University physicians obtain this tissue from donor families, make sure it’s free of disease, and implant thin pieces of it into the leg muscles of the children with DiGeorge syndrome. In a study reported in August 2003, all the children treated this way developed a working immune system.
This research offers hope that the children most severely affected by DiGeorge syndrome will be able to survive and live healthy lives.
Information for this article was taken from:
- ScienceDaily.com. Thymus transplant might save babies born without immune systems. July 30, 2003.
- Primary Immune Deficiency Foundation. The DiGeorge Syndrome.
- Guduri, S. (2002). DiGeorge syndrome. eMedicine, accessed at http://www.emedicine.com/med/topic567.htm
