Digeorge syndrome, schizophrenia, intellectual disability and borderline personality disorder: A case report

Abstract

Background DiGeorge syndrome (DGS) is a rare genetic illness characterised by the abnormal development of the pharyngeal pouch system. It is known to have a high association with intellectual disability and psychiatric disorders. Purpose This case report details a unique 22-year journey of a 49-year-old female with an established diagnosis Intellectual disability, Schizophrenia and Borderline Personality Disorder associated with DGS. This report demonstrates the challenges faced for a patient with 22q11.2DS in the 3 intersecting domains of physical, psychiatric and psychological illness. Results The report draws attention to the limitations in follow up care, risk management and discharge settings in the face of the treatment refractory nature of her underlying health conditions. Conclusions The case highlights the lack of specific treatment guidelines and psychosocial supports for the neuropsychiatric phenotypes associated with 22q11.2DS. More research is needed to inform guidelines and considerations of care for the`-se patients.