Abstract
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.
Highlights
Angelo DiGeorge first described DiGeorge syndrome (DGS) in 1829 as a congenital absence of the thymus and parathyroid glands.[1]
Research has demonstrated a strong association between DGS and psychiatric disorders such as psychotic disorders, attention-deficit or hyperactivity disorder, mood disorders, anxiety disorders and autistic spectrum disorders (ASD).[3,5]
Research findings have shown that low levels of proline dehydrogenase (PRODH) and catechol O-methyltransferase (COMT) in DGS are responsible for the phenotypic representation of psychotic disorders.[6]
Summary
Angelo DiGeorge first described DiGeorge syndrome (DGS) in 1829 as a congenital absence of the thymus and parathyroid glands.[1]. A 13-year-old female Motswana student, who is the first born in a family of two children and being raised by a single unemployed mother, was referred to a psychiatric hospital by her local facility She presented with a 1 week history of calling out for people who were not there as if she were conversing with them and seeing things other people could not see. She reportedly attended a normal stream school for 2 years but was transferred to a special needs school (i.e. school for children with learning difficulties) because of academic difficulties On medical history, she has been diagnosed with a complex congenital heart disease: pulmonary atresia, large ventricular septal defect, pulmonary regurgitation, right ventricular hypertension and failure. Psychotic symptoms subsided on day nine post admission She stabilised 2 weeks after admission and was discharged on olanzapine 5 mg once daily at night. A definitive diagnosis of early-onset schizophrenia in a patient with DiGeorge syndrome was made
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Schedule a callMore From: The South African journal of psychiatry : SAJP : the journal of the Society of Psychiatrists of South Africa
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