Esophageal Atresia and Intrathoracic Stomach in a Complex Case of Congenital Anomalies

<b>Background/Objectives:</b> Complex cases in pediatric surgery involving multiple congenital anomalies pose significant diagnostic and therapeutic challenges. These conditions require coordinated interdisciplinary care tailored to the individual patient. We present a case of syndromic congenital anomalies in a neonate, later diagnosed with CHARGE syndrome, to illustrate the importance of staged, multidisciplinary management. <b>Methods:</b> A 34-year-old woman in her third pregnancy developed significant polyhydramnios at 31 weeks of gestation, followed by preterm labor. The neonate presented with esophageal atresia with tracheoesophageal fistula (EA/TEF), intrathoracic stomach, aortic coarctation, patent ductus arteriosus, atrial septal defect, and bilateral choanal atresia. A structured treatment protocol was developed and implemented at Klinikum Stuttgart by an interdisciplinary team comprising gynecology, pediatric surgery, cardiology, ENT, neonatology, and genetics. <b>Results:</b> Initial pediatric surgical procedures included ligation of the tracheoesophageal fistula, repositioning of the intrathoracic stomach, and primary esophageal anastomosis. Cardiovascular anomalies were managed through staged interventions. Bilateral choanal atresia was surgically corrected. Genetic testing confirmed CHARGE syndrome. Postoperative care included respiratory support, enteral nutrition, and regular esophageal dilations. Due to persistent reflux esophagitis, antireflux surgery is planned. <b>Conclusions:</b> This case underscores the importance of a highly individualized and interdisciplinary approach in the management of syndromic congenital anomalies. The presence of CHARGE syndrome with multiple system involvement required careful staging of surgical interventions and long-term coordination of follow-up care. Early genetic diagnosis and integrated team planning were critical in optimizing outcomes in this complex neonatal case.

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Journal
Children
Published
2025-09-16
DOI
https://doi.org/10.3390/children12091244
Primary Topic
Congenital Ear and Nasal Anomalies
Type
article
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article

Esophageal Atresia and Intrathoracic Stomach in a Complex Case of Congenital Anomalies

Raphael Staubach, Helen Glosse, Ventsislav Sheytanov, Steffan Loff et al.
Children
Congenital Ear and Nasal Anomalies
article

Esophageal Atresia and Intrathoracic Stomach in a Complex Case of Congenital Anomalies

Raphael Staubach, Helen Glosse, Ventsislav Sheytanov, Steffan Loff, Philipp Christoph Köhler, Loredana Delle Chiaie
article en

Abstract

<b>Background/Objectives:</b> Complex cases in pediatric surgery involving multiple congenital anomalies pose significant diagnostic and therapeutic challenges. These conditions require coordinated interdisciplinary care tailored to the individual patient. We present a case of syndromic congenital anomalies in a neonate, later diagnosed with CHARGE syndrome, to illustrate the importance of staged, multidisciplinary management. <b>Methods:</b> A 34-year-old woman in her third pregnancy developed significant polyhydramnios at 31 weeks of gestation, followed by preterm labor. The neonate presented with esophageal atresia with tracheoesophageal fistula (EA/TEF), intrathoracic stomach, aortic coarctation, patent ductus arteriosus, atrial septal defect, and bilateral choanal atresia. A structured treatment protocol was developed and implemented at Klinikum Stuttgart by an interdisciplinary team comprising gynecology, pediatric surgery, cardiology, ENT, neonatology, and genetics. <b>Results:</b> Initial pediatric surgical procedures included ligation of the tracheoesophageal fistula, repositioning of the intrathoracic stomach, and primary esophageal anastomosis. Cardiovascular anomalies were managed through staged interventions. Bilateral choanal atresia was surgically corrected. Genetic testing confirmed CHARGE syndrome. Postoperative care included respiratory support, enteral nutrition, and regular esophageal dilations. Due to persistent reflux esophagitis, antireflux surgery is planned. <b>Conclusions:</b> This case underscores the importance of a highly individualized and interdisciplinary approach in the management of syndromic congenital anomalies. The presence of CHARGE syndrome with multiple system involvement required careful staging of surgical interventions and long-term coordination of follow-up care. Early genetic diagnosis and integrated team planning were critical in optimizing outcomes in this complex neonatal case.

ChildrenVol. 12(9)
Olgahospital (DE), Klinikum Stuttgart (DE), Klinik für Herzchirurgie Karlsruhe (DE)
Openalex Percentile: Top 65%
Congenital Ear and Nasal Anomalies
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