Molebatsi Keneilwe, Olashore Anthony A
Department of Psychiatry, University of Botswana, Botswana.
S Afr J Psychiatr. 2018 Feb 21;24:1164. doi: 10.4102/sajpsychiatry.v24.i0.1164. eCollection 2018.
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 ; 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.
迪乔治综合征（DGS）于1829年由安杰洛·迪乔治医生首次描述。DGS是由于咽囊发育缺陷而出现的一组症状。细胞遗传学研究证据已将DGS的发病机制与位于22号染色体22q11带的一个基因缺失联系起来。在大多数受影响个体中，存在该缺失；然而，据报道10% - 25%的患者存在遗传现象。DGS通常表现为典型的三联征，即圆锥动脉干心脏异常、胸腺发育不全和低钙血症。DGS可能是精神科医生关注的重点，因为它与认知缺陷、精神分裂症和焦虑症的高发病率有关。患者还可能因学习障碍、发育迟缓以及注意力缺陷或多动障碍等行为障碍而就诊于心理健康护理人员。因此，心理健康工作者在该疾病的诊断和及时治疗中发挥着不可估量的作用。在博茨瓦纳这样资源有限的地区，心理健康专业人员、儿科医生和神经科医生稀缺，DGS可能经常被误诊，从而导致不适当的干预，可能增加发病率。在此，我们介绍一个病例以提高认识，并展示该综合征可能呈现的多种方式之一。DGS表现的多面性强调了采用多学科方法进行治疗的必要性。
