威廉姆斯-贝伦综合征与先天性大叶性肺气肿：罕见关联与常见病理？
Williams-Beuren Syndrome and Congenital Lobar Emphysema: Uncommon Association with Common Pathology?
作者信息
Walsh Timothy Andrew, Gopagondanahalli Krishna Revanna, Malhotra Atul
机构信息
Monash Newborn, Monash Children's Hospital, Melbourne, VIC, Australia.
Department of Paediatrics, Monash University, Melbourne, VIC, Australia.
出版信息
Case Rep Pediatr. 2017;2017:3480980. doi: 10.1155/2017/3480980. Epub 2017 May 24.
INTRODUCTION
Congenital lobar emphysema (CLE) and Williams-Beuren Syndrome are two rare conditions that have only been reported together in a single case study.
CASE PRESENTATION
We report another case of a male Caucasian newborn with nonspecific initial respiratory distress, with detection of CLE on repeat chest X-ray on Day 25 of life and concurrent ventricular septal defect, supravalvular aortic stenosis, and branch pulmonary stenosis, in whom a 7q11.23 deletion consistent with Williams-Beuren Syndrome was made.
CONCLUSION
A diagnosis of congenital lobar emphysema should prompt further screening for congenital heart disease and genetic deletion, and further research is needed to investigate the role of elastin gene mutation in the development of the neonatal lung.
引言
先天性大叶性肺气肿（CLE）和威廉姆斯-贝伦综合征是两种罕见病症，仅在一项个案研究中被报道同时出现。
病例报告
我们报告另一例病例，一名白种人男婴新生儿起初有非特异性呼吸窘迫症状，在出生第25天复查胸部X光时发现患有CLE，并伴有室间隔缺损、主动脉瓣上狭窄和分支肺动脉狭窄，经检测其存在与威廉姆斯-贝伦综合征相符的7q11.23缺失。
结论
先天性大叶性肺气肿的诊断应促使进一步筛查先天性心脏病和基因缺失情况，且需要进一步研究以调查弹性蛋白基因突变在新生儿肺部发育中的作用。
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