Department of Pediatrics, Changhua Christian Hospital, Changhua 50050, Taiwan.
Cardiovasc Pathol. 2011 Mar-Apr;20(2):124-9. doi: 10.1016/j.carpath.2010.01.006. Epub 2010 Feb 2.
A complete vascular ring composed of right aortic arch, aberrant left subclavian artery with Kommerell's diverticulum, and left ligamentum arteriosum was diagnosed by barium esophagography, echocardiography, angiography, and multidetector computed tomography of chest in an 18-day-old male neonate who presented with remarkable inspiratory stridor, expiratory wheezing, postprandial vomiting, and dysphagia since birth, and survived surgical division of the left ligamentum arteriosum, resection of the Kommerell's diverticulum, and reimplanation of the left subclavian artery to the left common carotid artery. Cytogenetic analysis and fluorescence in situ hybridization study of his blood revealed chromosome 22q11.2 deletion, with a karyotype of 46,XY.ish del(22)(q11.2 q11.2). A constellation of right aortic arch, aberrant left subclavian artery with Kommerell's diverticulum, and left ligamentum arteriosum in neonates may cause refractory stridor, wheezing, vomiting, and dysphagia, which can serve as harbingers of the del22q11.2 syndrome.
一名 18 天大的男性新生儿因出生后即出现显著吸气性喘鸣、呼气性喘鸣、餐后呕吐和吞咽困难而就诊，钡餐食管造影、超声心动图、血管造影和胸部多排螺旋 CT 诊断为完全性血管环，由右主动脉弓、左锁骨下动脉异常伴 Kommerell 憩室和左动脉韧带组成。该新生儿接受了左动脉韧带的离断、Kommerell 憩室的切除和左锁骨下动脉重新植入左颈总动脉的手术治疗。其血液的细胞遗传学分析和荧光原位杂交研究显示 22q11.2 缺失，核型为 46,XY.ish del(22)(q11.2 q11.2)。右主动脉弓、左锁骨下动脉异常伴 Kommerell 憩室和左动脉韧带在新生儿中的组合可能导致难治性喘鸣、喘鸣、呕吐和吞咽困难，这可能是 del22q11.2 综合征的先兆。
