Schizophrenia in DiGeorge Syndrome: A Unique Case Report

Abstract

Herein we present the unique case of a 21-year-old African American woman who presented with psychotic features and the incidental finding of basal ganglia calcifications on computed tomography (CT) scan of the head. She was initially presumed to have Fahr's syndrome in the context of idiopathic bilateral basal ganglia calcifications and psychotic features. Genetic testing performed revealed the deletion of 22q11.2, thus establishing the diagnosis of DiGeorge syndrome. This case highlights the importance of noticing subtle physical exam findings along with laboratory findings as this led to the diagnosis of DiGeorge syndrome for this patient. This case is unique in two aspects; first, the finding of basal ganglia calcification via CT of the brain in patients with DiGeorge syndrome has rarely been reported in the literature. Second, this case highlights the strong genetic predisposition for schizophrenia in patients with DiGeorge syndrome.