DiGeorge syndrome: a case report of a child with attention deficit and socialization problems

Abstract

DiGeorge Syndrome which is also known as chromosome 22q11.2 deletion syndrome is a primary immunodeficiency caused by the deletion of chromosome 22. Its main features include dysmorphia, hypoparathyroidism, hypocalcemia, hypoplasia or aplasia of the thymus, cardiac anomalies, renal anomalies, and behavioral/ psychiatric issues. This incurable syndrome could be treated for its complications to increase the quality of life. With the advancement of technology, DiGeorge syndrome can now be identified in childhood itself where FISH is the main diagnostic method used. A case report of a 5-year-old boy who visited the psychiatric hospital with attention deficit and socialization problems is presented here. The boy also had a medical history of mild recurrent numbness in his hands and showed mild facial dysmorphism on physical examination. On the evaluation of his case, Partial DiGeorge Syndrome was confirmed.