Successful treatment of psychosis with metyrosine in a young adult with velocardiofacial syndrome: a case report

Abstract

Velocardiofacial syndrome (VCFS) has many psychiatric manifestations along with multiple physical findings such as developmental delay, cardiac abnormalities, palatal anomalies, and immune deficiency. As many as 41% of individuals with VCFS have experienced a psychotic disorder– a disabling and distressing condition. One of the missing genes in the syndrome is catechol-O-methyltransferase (COMT) that is involved in dopamine metabolism and neurotransmission, and one possible implication of this haploinsufficiency is higher dopamine levels in the prefrontal cortex. We present a case of VCFS- associated psychosis that was unresponsive to traditional antipsychotic agent trials but responded to a trial of metyrosine, an older antihypertensive medication that inhibits catecholamine synthesis. Since the initiation of metyrosine, the patient has had no psychiatric hospitalizations in three years, a distinct and dramatic difference from the two years prior to the initiation of the medication. Metyrosine is not a first line treatment for VCFS-related psychosis. Prior to its initiation, traditional antipsychotics should be tried and clozapine would be an option for treatment-resistant cases.