Unique Considerations in the Treatment of Psychosis in DiGeorge Syndrome: A Case Report

Abstract Introduction DiGeorge Syndrome is a microdeletion of chromosome 22q11.2 and most commonly de novo. Manifestations are wide-spread including cardiac malformations, palatal abnormalities, intellectual disability, hypocalcemia, dysmorphic facial features, psychiatric disorders (psychotic disorders, Autism, ADHD, etc). This case report highlights difficulties with diagnosis treatment psychosis in DiGeorge. 29 yo male history associated anomalies presented to the outpatient clinic prior diagnoses schizoaffective disorder, bipolar DMDD, autism, ADHD. Patient denied all symptoms, though mother noted hallucinations for 5–6 years. He was previously on aripiprazole divalproex developed resting tremor. With family Parkinson’s disease (PD), increased risk PD DiGeorge, no improvement tremor dose reduction or discontinuation divalproex, neurology diagnosed PD, which later negated when resolved complete aripiprazole. In our we slowly olanzapine, parent concern sedation limited higher doses. had moderate symptoms per parents, but after several months moderate-dose he Sensitivity extrapyramidal limits medication selection. Furthermore, QT prolongation population abnormalities poses unique risk. Given complexity poor response, researched pathogenesis Methods We reviewed literature PubMed keywords “DiGeorge,” “treatment,” “psychosis.” Specifically, looked at articles addressing efficacy, side effects, novel treatments, as it relates treatment. Results Literature indicates that psychotic more resistant compared not there little consensus antipsychotics effective. The deletion contains gene segment catechol-O-methyltransferase (COMT) resulting COMT deficiency leads excess catecholamines. presence low activity variant remaining allele possibly severe symptoms. Metyrosine may be potential by interfering dopamine synthesis. Overall sparse research lack firm recommendations. Conclusion study exemplifies need further psychosis. Treatment complicated comorbid neuropsychiatric conditions confounding diagnosis, treatments target pathogenesis. Research inconsistent concerning recommendations primarily anecdotal. Funding No