DiGeorge Syndrome: A Case Report

Introduction DiGeorge syndrome is a genetic disorder caused by deletion of chromosome 22. The main features are congenital heart disease, absence or hypoplasia of thymus (with consecutive immunodeficiency and infections), hypoparathyroidism with consecutive hypocalcaemia, gastrointestinal problems, Delayed psychomotor development, abnormalities of head and face, tendency to develop seizures and psychiatric disorders. Syndrome can be detected prenatally, or during early development, which is of great importance for preventive and therapeutic measures. Death rate is high during the first year of life, mostly because of congenital heart disease. With prompt diagnosis and treatment most of the children can survive to adulthood, but they are children with special needs requiring continual care and supervision (because of metal retardation, seizures, neurological and psychiatric disorders). Case Outline A seven-year-old boy underwent surgical correction of congenital heart disease soon after the birth. Since the age of four years he developed seizures, partially controlled by antiepileptic therapy. Entering the seventh year of age he displayed severe auto and heteroaggressive behaviour. His condition has improved by the introduction of intensive psychiatric and defectological treatment, and daily counselling with his mother the child improved in the sense of calming down, better social communication and acquiring some self-help specific skills. Conclusion Symptoms of DiGeorge syndrome can be detected soon after the birth, especially that concerning congenital hearth disease. A prompt diagnosis and surgical intervention can save the child's life. Because of many other symptoms, many diagnostic procedures focused on this syndrome are to be performed, followed by long lasting stimulative treatment and treatment of seizures and psychiatric disorders.