DiGeorge Syndrome With Atypical Psychotic Symptoms: The Need for a Multidisciplinary Methodology

Abstract

DiGeorge syndrome (DGS), known as 22q11.2 deletion syndrome or velocardiofacial syndrome, is one of the most common microdeletion syndromes in humans. Developmental delay, intellectual disability, congenital cardiac and gross vessel anomalies, hypocalcemia, and hearing loss may be seen and characterized by dysmorphic facial features. The syndrome has high risk for psychiatric disorders, specifically intellectual disability and psychotic disorders. Dysmorphic features may be overlooked and the diagnosis may be delayed for years. We explore a case of DGS with intellectual disability and atypical psychotic symptoms. A 19-year-old female patient had atypical psychotic symptoms, dysmorphic facial features, and unilateral hearing loss. Intellectual disability was detected in the IQ test evaluation. A detailed investigation and genetic evaluation resulted in a diagnosis of DGS. This case report highlights the variable clinical presentation of DGS in each patient and the need for a multidisciplinary methodology to diagnose and treat it. [ Psychiatr Ann . 2023;53(9):432–435.]