Schizophrenia in 22q11.2 deletion syndrome: A case report

Abstract

22q11.2 deletion syndrome (22q11.2DS), also known as velocardiofacial syndrome (VCFS) or DiGeorge syndrome, is a common autosomal dominant disorder caused by a microdeletion on chromosome 22, leading to a spectrum of congenital defects and neuropsychiatric manifestations, including a significantly increased risk of schizophrenia. This case report details a 23-year-old male with confirmed 22q11.2DS who presented with acute psychosis, following a history of developmental delays, attention deficit hyperactivity disorder, obsessive-compulsive disorder, and cognitive impairments. The neuropsychiatric symptoms are attributed to genetic disruptions in dopamine and glutamate pathways, notably involving the COMT and PRODH genes, which contribute to dopaminergic dysregulation and NMDA receptor dysfunction. Neuroimaging supports these findings, with structural anomalies in the prefrontal cortex and thalamus. The case exemplifies the complex interaction of genetic predisposition and environmental stressors in the onset of schizophrenia in 22q11.2DS. Early intervention targeting both genetic factors and environmental stressors is critical in managing the neuropsychiatric burden in this population, emphasizing the need for comprehensive, multidisciplinary care.