The 22q11 microdeletion syndrome in children

Abstract

DiGeorge syndrome is a primary immunodeficiency with microdeletion 22q11. Prenatal diagnosis is possible. Typical disorders are heart defects of heart and large vessels, hypoplasia of the parathyroid glands, dysmorphia, no thymus and immune deficiency. The primary problem is the heart defect requiring cardiac surgical intervention. Due to the severi ty of the operation, immunodeficiency often goes into the background. Infections are associated with cardiovascular abnormalities. The immune deficit is omitted without proper treatment including isola tion of the patient, substitution of i.v. immunoglobulin, chemo-prophylaxis. Blood products must be irra diated. What should be applied is oncology alertness and limitation of X-ray should also be noted. A com prehensive care reduces infections and improves the quality of life.