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

Document Type

Article

Publication Date

12-9-2024

Publication Title

International Journal of Developmental Disabilities

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.

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