A Case of Partial DiGeorge Syndrome with Attention Deficit and Hyperactivity Disorder and Specific Learning Disorder

Abstract

DiGeorge Syndrome (DGS) is the most seen microdeletion syndrome and its prevalance varies from 1/4000 to 1/6000. Over embriogenesis, a deletion of an approximately 3 Mb frame from 22q11.2 results in this syndrome and its clinical features varies from congenital heart and gross vessels anomalies, hypocalcemia, respiratory problems, leucomotor or urogenitale system anomalies, hearing loss, to developmental delay. Alongside different clinical features and phenotypes, these patients should be followed up on psychiatric symptoms and disorders such as speech delay, specific learning difficulties (SLD), mental retardation, attention deficit hyperactivity disorder (ADHD), autism, anxiety, depression and even schizophrenia and other pcychotic disorders. This case, diagnosed with partial DGS and followed by immunology, cardiology, endocrinology and neurology departments, admitted to our clinic on account of his difficulties in learning and inattention. The patient was diagnosed with ADHD and SLD, then pharmacotherapy and individual educational programme were planned. The insufficient expression of the catecolamine-O-methyltransferase (COMT) gene located in the 22q11.2 gene could very well play a role in both the etiology of ADHD and SLD. There is still no clear causative relation between these, so there is a need to clarify this with further studies. As seen in our case, the patients with DGS and having some inattention or learning difficulties are needed to be examined by the child psychiatrists. Treatment protocols related to these patients' symptoms would be evaluated with a multidisciplinary attitude.