Department of Pediatric Cardiology, Fortis Escorts Heart Institute, Delhi, India.
Cardiol Young. 2021 Nov;31(11):1850-1852. doi: 10.1017/S1047951121001487. Epub 2021 Apr 21.
DiGeorge syndrome is a rare spectrum of disorder affecting structures derived from third and fourth pharyngeal pouches characterised by aplasia or hypoplasia of thymus and parathyroid glands, and conotruncal anomalies. Presentation includes infants with hypocalcemic seizures, CHD, or recurrent infection. This case report illustrates a unique combination of proximal interruption of right pulmonary artery and aberrant right subclavian artery in a 3-month-old infant who was subsequently diagnosed as DiGeorge syndrome. This constellation of vascular anomalies in an infant with DiGeorge syndrome has not been previously reported in the literature.
DiGeorge 综合征是一种罕见的疾病谱,影响源自第三和第四咽囊的结构,其特征为胸腺和甲状旁腺发育不全或发育不良,以及心颈部异常。临床表现包括低钙血症性癫痫发作、CHD 或反复感染的婴儿。本病例报告说明了一名 3 个月大婴儿存在右肺动脉近端中断和右锁骨下动脉异常的独特组合,该婴儿随后被诊断为 DiGeorge 综合征。这种 DiGeorge 综合征婴儿的血管异常组合在文献中尚未有报道。