Congenital tracheal agenesis in a preterm infant
10.3760/cma.j.cn113903-20250519-00264
- VernacularTitle:先天性气管发育不全早产儿1例
- Author:
Fengxia ZHAO
1
;
Juan WANG
1
;
Chang WANG
1
;
Chuangao YIN
1
;
Zeyu YANG
1
;
Jian ZHANG
1
;
Shaohua BI
1
;
Yu LIU
1
Author Information
1. 复旦大学附属儿科医院安徽医院（安徽省儿童医院）新生儿科，合肥 230051
- Publication Type:Journal Article
- Keywords:
Tracheal agenesis;
Tracheoesophageal fistula;
Duodenal atresia;
SCN2A;
ERCC5
- From:
Chinese Journal of Perinatal Medicine
2025;28(11):974-977
- CountryChina
- Language:Chinese
-
Abstract:
This report described the multidisciplinary management of a preterm infant with congenital tracheal agenesis (TA). The infant, delivered via cesarean section at 32 +5 weeks' gestation, had Apgar scores of 6 and 8 at 1 and 5 minutes, respectively. Although skin color improved after 30 seconds of bag-mask ventilation, the infant exhibited no cry, weak spontaneous breathing, and failed multiple intubation attempts. The patient was transferred to Anhui Children's Hospital of Fudan University under continuous bag-mask positive-pressure ventilation at 3 hours after birth (September 10, 2024). Combined imaging and fiberoptic bronchoscopy confirmed TA (Floyd type Ⅱ/Faro type C) with multiple anomalies, including duodenal atresia, aortic coarctation, and butterfly vertebrae. Whole-genome sequencing revealed a suspected mosaic SCN2A c.5317G>A variant (wild-type parents) and an ERCC5 c.2974C>T heterozygous variant inherited from the mother (homozygous). Following esophageal intubation, invasive mechanical ventilation, and continuous gastrointestinal decompression, respiratory distress significantly improved with a stabilized condition. The infant died 30 hours after birth following treatment withdrawal.
