Early-onset psychosis in an adolescent with DiGeorge syndrome: A case report
DiGeorge syndrome (DGS) was first described in 1829 by Dr Angelo DiGeorge. DGS is a cluster of symptoms because of a defect in the development of the pharyngeal pouch. Evidence from cytogenetic studies has linked the pathogenesis of DGS with a deletion of a gene located in chromosome 22-band 22q11. In most affected individuals, the deletion is de novo; however, inheritance has been reported in 10% – 25% of patients. DGS commonly presents with a classical triad of conotruncal cardiac anomalies, hypoplastic thymus and hypocalcaemia. DGS may be of focus to a psychiatrist as it is associated with cognitive deficits, high rates of schizophrenia and anxiety disorders. Patients may also present to mental health care workers with learning disabilities, developmental delay and behavioural disorders such as attention-deficit or hyperactivity disorder. Mental health workers therefore play an invaluable role in the diagnosis and timely treatment of the disorder. In a resource-limited area such as Botswana, with scarce mental health professionals, paediatricians and neurologists, DGS may be frequently misdiagnosed with consequent inappropriate interventions that may increase morbidity. Herein, we present a case to raise awareness and demonstrate one of the varied ways the syndrome may present. The multifaceted nature of DGS presentation underscores the need for a multidisciplinary approach to treatment.
The author(s) retain copyright on work published by AOSIS unless specified otherwise.
Licensing and publishing rights
Author(s) of work published by AOSIS are required to grant AOSIS the unlimited rights to publish the definitive work in any format, language and medium, for any lawful purpose.
AOSIS requires journal authors to publish their work in open access under the Creative Commons Attribution 4.0 International (CC BY 4.0) licence.
Read more here: http://creativecommons.org/licenses/by/4.0/.
The authors retain the non-exclusive right to do anything they wish with the published article(s), provided attribution is given to the applicable journal with details of the original publication, as set out in the official citation of the article published in the journal. The retained right specifically includes the right to post the article on the authors’ or their institution’s websites or in institutional repositories.
Previously published work may have been published under a different licence. We advise the community that if they would like to reuse the work to consult the applicable licence at article level.