Dr Ira Shah
Consultant Pediatrician, Nanavati Hospital and B.J.Wadia Hospital for Children, Mumbai
Editor - Pediatric Oncall
What is DiGeorge syndrome?
DiGeorge syndrome is a genetic disorder due to deletion in Chromosome 22 This leads to abnormal and poor development of the parathyroid gland, thymus and heart.
What are the symptoms of DiGeorge syndrome?
Due to abnormalities in the parathyroid gland, thymus gland and heart, patients have clinical presentations due to improper functioning of these organs. In addition patients may have unique facial features in form of under developed chin, heavy eyelids, defective ear lobes and cleft palate. Poor functioning of the parathyroid gland can lead to a condition called as hypoparathyroidism which leads to low blood calcium levels which can lead to fits/seizures. Heart defects in form of aortic valve abnormalities are commonly seen. Due to abnormality of thymus gland, the T-lymphocyte production is poor (thymus produces T-lymphocytes. See primary immunodeficiency) and patients are more prone to viral, fungal and bacterial infections.
Patients with DiGeorge syndrome may not have abnormalities of all above organs and thus clinical features and symptoms may greatly vary from patient to patient.
How is the diagnosis of DiGeorge syndrome made?
Based on various clinical features, a diagnosis of DiGeorge syndrome is suspected. However most commonly children are identified due to characteristic facial features, low blood calcium, heart defects and decrease in T-lymphocyte number and function. Genetic test in form of FISH (Fluoresent In situ Hybridization) helps to detect the deletion in Chromosome 22.
What is the treatment of DiGeorge syndrome?
Treatment of DiGeorge syndrome consists of correcting various complications arising due to organs involved. Calcium and vitamin D (1,25 dihydroxy vitamin D3) supplements are required to correct low calcium. The heart defect requires medications to improve heart functions and surgery to correct the defect. Patients with recurrent infections due to poor T-lymphocytes may require bone marrow transplantation or thymus transplant which is very rare as in most children with DiGeorge syndrome, the small amount of thymus provides adequate T-lymphocyte function. Rarely children may require immunoglobulin replacement therapy.
Last Updated: 1st September 2011