Search Results (32)

Background: Esophageal atresia (EA) is a rare congenital malformation of the foregut, most commonly presenting in association with tracheoesophageal fistula (TEF). Advances in neonatal surgical techniques and intensive care have significantly improved survival rates over recent decades. However, short- and long-term respiratory morbidity remains prevalent, substantially impacting patients’ quality of life. Methods: This is a retrospective single-center case series of pediatric patients with repaired EA, with emphasis on the spectrum of pulmonary complications and their clinical management. Six patients with repaired type C EA with TEF and associated respiratory complications were included. All patients were admitted between 2018 and 2026 to the Third Pediatric Clinic, Clinical Hospital for Pediatric Emergencies, Cluj-Napoca, Romania, for the management of respiratory pathology. Results: Tracheomalacia was identified in all six patients, and each had experienced at least one episode of lower respiratory tract infection. Reactive airway disease meeting diagnostic criteria for asthma was documented in two patients. One case raised clinical suspicion for a residual or recurrent tracheoesophageal fistula, warranting further diagnostic workup. Gastroesophageal reflux (GER) was present in all patients. Protein-energy malnutrition was identified in two patients (30% of the cohort). Conclusions: Surgically repaired EA is frequently associated with considerable chronic respiratory and gastrointestinal morbidity. A structured multidisciplinary approach, including pediatric pulmonology, gastroenterology, surgery and nutrition, alongside systematic long-term follow-up, is essential to optimize outcomes and quality of life in this vulnerable patient population. Full article

Background: Esophageal atresia (EA) is a complex congenital anomaly frequently associated with additional malformations and genetic conditions. Despite advances in prenatal imaging and genomic technologies, establishing an etiologic diagnosis and performing accurate risk stratification remain challenging due to marked clinical and genetic heterogeneity. Methods: We conducted a retrospective cohort study of neonates diagnosed with EA and admitted to a level IIIc neonatal intensive care unit between 2005 and 2024. Prenatal findings, associated anomalies, genetic testing results, mortality, and neurodevelopmental outcomes beyond 12 months were analyzed. Results: A total of 105 neonates were included, of whom 10.5% were diagnosed prenatally. Isolated EA was identified in 55.2% of patients, whereas 44.8% had associated anomalies, most commonly congenital cardiac defects. Clinically relevant genetic findings were identified in 10.5% of the total cohort (23.4% of complex EA cases). These findings reflect a clinically selected subgroup and should not be interpreted as diagnostic yields applicable to unselected populations or as a comparison between testing modalities. Overall mortality was 11.4%. Lower birth weight showed the strongest association with mortality in univariable analyses; however, no independent predictors were inferred due to the limited number of events. All deceased patients had complex malformative conditions and/or extreme prematurity. Among children with follow-up beyond 12 months, 88.5% demonstrated age-appropriate neurodevelopment. Conclusions: EA is characterized by substantial etiologic and phenotypic heterogeneity. Prenatal detection remains challenging, although advances in fetal imaging may improve diagnostic accuracy. A phenotype-guided approach integrating clinical evaluation and genetic testing may support etiologic diagnosis, recurrence counseling, and follow-up planning in selected patients. However, because testing was indication-driven and evolved over time, the reported diagnostic yields should not be generalized to unselected EA populations or interpreted as comparative performance across testing modalities. Full article

The development of the esophagus and trachea following the septation of the anterior foregut is a highly regulated process involving bidirectional communication between the endoderm and mesoderm. Signaling pathways such as the Bone Morphogenetic Protein family, Wnt/β-catenin, Sonic Hedgehog, and Fibroblast Growth Factor family mediate this complex crosstalk to induce the dorsal-ventral patterning of the anterior foregut as well as lineage specification. Even though the mechanisms are not fully understood, dysregulation of signaling pathways may lead to congenital malformations such as tracheomalacia, laryngeal–tracheal clefts and multiple types of esophageal atresia with/without tracheoesophageal fistula (EA/TEF). Human induced pluripotent stem cells (iPSCs) provide a robust in vitro platform to monitor the normal and abnormal development of esophagus and trachea and to understand the roles of the endoderm and mesoderm during anterior foregut development. Recent studies have demonstrated that direct differentiation of iPSCs into epithelial and mesenchymal lineages can recapitulate the key stages of foregut development. In this regard, in the current paper, we review the signaling pathways involved in the development of organs deriving from the anterior foregut as well as the roles of the endoderm and mesoderm revealed by previous studies. Furthermore, we discuss the use of iPSCs as a valuable model for investigating the bidirectional communications between the endoderm and mesoderm, which can broaden our knowledge and understanding of the critical mechanisms leading to normal and abnormal development of the esophagus and trachea. Full article

Background: In pediatric age, the central airways are more flexible and mobile, with tracheal and bronchial walls easily tending to collapse, allowing partial or complete occlusion of the lumen: a situation described as tracheobronchomalacia (TBM). This is a condition that causes an increase in intrathoracic pressure that may accentuate airway collapse, and a biphasic or barking cough appears. Objectives: Although TBM is relatively frequent in pediatric age, the diagnostic criteria and subsequent treatment do not follow well-standardized criteria and often vary from pediatric center to center. Therefore, there is a need to standardize diagnostic procedures and the resulting medical or surgical treatments. Methods: We therefore organized a day of meetings to talk about TBM, inviting all Italian pediatricians and pediatric surgeons who diagnose and treat patients with this pathology on a daily basis. Results: This work, collecting all the meeting interventions, is a compendium that deals with all aspects of TBM, emphasizing the most correct criteria to diagnose and therefore best treat each pediatric patient with this clinical condition. We give particular emphasis to the need to perform static and dynamic videobronchoscopy (S/DVBS) to verify the patency of the tracheal lumen, so as to evaluate the severity of TBM. Conclusions: this work deals with TBM in all its diagnostic and treatment aspects and can be a valid help for all pediatricians who treat these patients. Full article

Background/Objectives: 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. Methods: 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. Results: 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. Conclusions: 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. Full article

Background: Minimally invasive surgery (MIS) is increasingly adopted in pediatric surgical practice, yet it demands specific technical skills that require structured training. Simulation-based education offers a safe and effective environment for skill acquisition, especially in complex procedures such as thoracoscopic repair of esophageal atresia with tracheoesophageal fistula (EA-TEF). Objective: This study aimed to evaluate the effectiveness of a 3D-printed simulator for training pediatric surgeons in thoracoscopic EA-TEF repair, assessing improvements in operative time and technical performance. Methods: A high-fidelity, 3D-printed simulator replicating neonatal thoracic anatomy was developed. Six pediatric surgeons at different training levels performed eight simulation sessions, including fistula ligation and esophageal anastomosis. Operative time and technical skill were assessed using the Stanford Microsurgery and Resident Training (SMaRT) Scale. Results: All participants showed significant improvements. The average operative time decreased from 115.6 ± 3.51 to 90 ± 6.55 min for junior trainees and from 100.5 ± 3.55 to 77.5 ± 4.94 min for senior trainees. The mean SMaRT score increased from 23.8 ± 3.18 to 38.3 ± 3.93. These results demonstrate a clear learning curve and enhanced technical performance after repeated sessions. Conclusions: Such 3D-printed simulation models represent an effective tool for pediatric MIS training. Even within a short time frame, repeated practice significantly improves surgical proficiency, supporting their integration into pediatric surgical curricula as an ethical, safe, and efficient educational strategy. Full article

Background: Esophageal atresia (EA) type A, characterized by the absence of a tracheoesophageal fistula and typically presenting with a long esophageal gap, usually requires staged repair. Methods: We report a rare case of a newborn with type A EA in which both the proximal and distal esophageal pouches were unexpectedly close and located in the cervical region. This anatomical variant allowed for a successful primary anastomosis through a cervical approach. Results: Initial imaging was misleading, and the true anatomy was clarified only through thoracoscopic exploration, underscoring the importance of intraoperative flexibility. Conclusions: To our knowledge, this is the first report of such a presentation in type A EA, with significant implications for diagnosis and surgical strategy. Full article

Background and Aims: Esophageal atresia (EA) and tracheoesophageal fistula (TEF) are rare but serious congenital anomalies requiring early surgical intervention. Over the past two decades, minimally invasive surgical (MIS) approaches—particularly thoracoscopic repair—have gained traction, aiming to reduce postoperative morbidity while maintaining surgical efficacy. Objective: This narrative review provides a comprehensive overview of the evolution and current status of MIS techniques for EA/TEF, assessing their clinical outcomes, technical challenges, and implications for patient care. Methods: A structured literature search was conducted to identify clinical studies, reviews, and reports on thoracoscopic, robotic-assisted, and endoscopic approaches to EA/TEF. Emerging adjuncts, including tissue engineering, botulinum toxin use, and magnet-assisted anastomosis, were also reviewed. Results: Thoracoscopic repair has demonstrated comparable anastomotic success rates to open surgery (approximately 85–95%) with significantly reduced rates of musculoskeletal complications, such as scoliosis and chest wall deformities (reported in less than 10% of cases, compared to up to 40% in open approaches). Robotic-assisted and endoscopic-assisted techniques have enabled improved visualization and precision in anatomically challenging cases, although their use remains limited to high-resource centers with specialized expertise. Common postoperative complications include anastomotic stricture (30–50%), gastroesophageal reflux disease (35–70%), and respiratory morbidity, necessitating long-term multidisciplinary follow-up. Recent innovations in simulation-based training and bioengineered adjuncts have facilitated safer MIS adoption in neonates. Conclusions: Minimally invasive techniques have improved the surgical management of EA/TEF, though challenges remain regarding technical complexity, training, and resource availability. Continued innovation and collaborative research are essential for advancing care and ensuring optimal outcomes for affected infants. Full article

Introduction: Congenital duodenal atresia (DA) (Type I) with a fenestrated web can be characterized by a late presentation with a delayed diagnosis. It is even rarer and usually associated with proximal duodenomegaly. Conventional management involves web resection and duodeno–duodeno anastomosis with or without duodenoplasty. We describe our mininvasive surgical strategy and management, detailing the aspects of laparoscopic techniques. Material and Methods: We retrospectively reviewed the medical records of five patients affected by fenestrated duodenal web (DA) with a delayed onset of symptoms and diagnosis who were managed in our Department over a period of 10 years (2013–2023). We analyzed the age of patients at diagnosis, clinical signs and symptoms, associated congenital anomalies, radiological and intraoperative findings, surgical treatment, and outcomes. Diagnostic examinations included ultrasound (US), Upper-Gastrointestinal Study (UGI), and Esophagogastroduodenoscopy (EGDS). Results: Three boys and two girls, median age of 5.5 months (range 3–11 months), were included in this study. Three underwent previous surgery for long-gap esophageal atresia (EA), two of Type A, and one of Type C, requiring a gastrostomy immediately after birth (delayed esophageal repair for prematurity in Type C) and subsequent delayed primary anastomosis. Major associated anomalies were EA (3), anterior ectopic anus (1), cloaca (1), and Type IV laryngeal web (1). An antenatal diagnostic suspicion of duodenal atresia (obstruction) on ultrasound was described in two patients. UGI suggested a fenestrated duodenal web, visualized at ultrasound in two patients. Duodenal dilation was associated in two cases. The symptoms were feeding difficulties, nonbilious vomiting, upper abdominal distension, and poor growth. All presented with a pre-ampullary obstruction. Endoscopic confirmation was only possible in one patient. The older patient underwent an endoscopic resection of a duodenal web. In the other four, we performed a laparoscopic longitudinal antimesenteric duodenal incision, web resection (excision), and transverse suture (closure was performed) without duodenoplasty. Intraduodenal Indocyanine Green (ICG) visualization (under near-infrared light) was used in the last two cases. No postoperative complications were recorded, with a mean hospital stay of 8 days. A contrast study performed at 4 weeks demonstrated an improved proximal duodenal profile; patients tolerated a full diet and remained symptom-free. Conclusions: According to our experience with minimally invasive techniques, laparoscopy and endoscopy are effective and safe, supporting web resection for the management of a duodenal web without tapering of the proximal duodenum. They require advanced technical skills. Intraduodenal-ICG injection during laparoscopic treatment of Type 1 DA allows localization of the duodenal web, confirmation of bowel patency (bowel canalization) and the tightness of suture. Full article

Background/Objectives: Endoscopy plays a well know role in managing patients treated for esophageal atresia (EA), allowing the detection and treatment of complications such as anastomotic strictures, gastroesophageal reflux disease, and other structural abnormalities, during the critical first year of life. Nevertheless, we would like to underline the importance of endoscopy early in the follow-up of patients treated for EA, as recommended by guidelines. This study evaluates the role of endoscopy in managing patients treated for esophageal atresia (EA), focusing on the detection and treatment of complications such as anastomotic strictures, gastroesophageal reflux disease, and other structural abnormalities during the critical first year of life. Methods: A retrospective analysis was conducted over 20 years at our institution. Clinical assessments were performed at 3, 6, and 9 months to monitor growth, feeding tolerance, and proton pump inhibitor (PPI) adjustments. Endoscopic evaluations were conducted under general anesthesia around one year of age. Results: Between 2003 and 2023, 84 patients underwent surgical treatment for EA, with complete follow-up data available for 77 patients. Complications occurred in 21 patients (27%), including 4 patients (5.5%) with isolated anastomotic stricture, 8 patients (10%) with reflux esophagitis, 8 patients (10%) affected by both stenosis and reflux, and 1 case (1.5%) of fistula recurrence. Endoscopic dilatations for stenosis were successful, averaging three procedures per patient. Growth parameters were normal in 91% of cases by the first year. Conclusions: Esophagogastroscopy is a safe and effective tool for diagnosing and managing complications after EA repair in infants. The minimally invasive procedure could allow early detection of esophagitis and strictures, offering significant therapeutic benefits. Given these important results, we would like to recommend its use in routine follow-up care. Full article

Background and objectives: Outcomes of neonates diagnosed with esophageal atresia (EA), a rare congenital malformation, vary widely. Due to limited and fragmented data globally, major regional centers offer a crucial opportunity to better understand EA’s epidemiology and the management. This study aimed to address these gaps by determining total birth prevalence and early treatment outcomes of EA in southern Croatia. Methods: All EA cases (1991–2020) were retrospectively ascertained from medical documentation at the only tertiary referral center for EA in southern Croatia, with birth data collected from the entire background population. We collected data on neonates’ status and diagnosis, operative findings, early postoperative complications, and treatment outcome from this single center. Results: A total of 53 cases were identified, with an average total birth prevalence of 2.44 per 10,000 total births/year. No significant sex differences were found (p = 0.339), and most cases were complex Vogt 3B. The mortality rate dropped from 87 to 8% over a 30-year period (p < 0.001). The 1-year survival rate was 54% (95% CI 40–68%) for liveborns and 64% (50–79%) for liveborns who underwent surgery and intensive care. However, 16% of patients died before surgery due to hemodynamic instability, and among those operated on, high sepsis, pneumonia, and atelectasis rates were observed. Conclusions: EA prevalence in southern Croatia aligns with European data. Survival improved significantly after 2002, coinciding with a dedicated pediatric ICU and enhanced pediatric care training. Further advancements in early diagnosis and a multidisciplinary approach are needed to further reduce mortality. Strengthened postoperative infection control and optimized postoperative respiratory support are also crucial to minimizing complications. Full article

Aim: Esophageal atresia (EA) is the most common congenital esophageal malformation. Thoracoscopic repair is gaining popularity, but controversy persists regarding the ideal surgical approach for this challenging anomaly. This study’s aim is to analyze outcomes in terms of quality of life (QoL) of children undergoing thoracotomy and thoracoscopy for type III EA repair. Methods: Perinatal characteristics, malformations, surgical procedures, complications, gastrointestinal, and respiratory current symptoms were collected. QoL was investigated through Esophageal-Atresia-QoL (EAQoL) and Pediatric-QoL (PedsQL) 4.0 standardized and validated questionnaires. Statistical Mann–Whitney test with significance level p < 0.05 was carried out. Main results: A total of 32 patients undergoing type III EA primary repair answered the questionnaire, including 17 thoracotomy and 15 thoracoscopy. Median birth weight was not significantly different between two groups (median [2.385; 2.475], p = 0.3529) while gestational age showed statistically difference (median [36; 38], p = 0.0063). Thirty-five associated malformations (15 thoracotomy, 20 thoracoscopy) in 23 patients were observed. Postoperative complications occurred in nine patients in the thoracotomy group (one recurrent fistula, two leakages, six stenosis) and in six patients in the thoracoscopic group (two recurrent fistula, four stenosis). Analyzing EAQoL, we found statistically significant difference in physical health between the two groups (median [83; 96], p = 0.0119), while there was no difference in social relations, eating, and total score (median [100; 100], p = 0.3473) (median [91; 97], p = 0.5749) (median [91; 96], p = 0.1710). Investigating PedsQL, psychosocial health score (median [88; 98], p = 0.0069), and total score (median [91;99], p = 0.0043) were statically significant different between the groups, whereas there was no difference for physical health score (median [91; 100], p = 0.0706). Conclusions: Thoracoscopic EA repair is safe and feasible, allowing patient to have a better QoL in terms of physical and psychosocial health score. Full article

Background: Congenital h-type tracheoesophageal fistula (H-TEF) without esophageal atresia (EA) represents about 4% of congenital esophageal anomalies. The diagnosis is challenging, and surgery is considered curative. The aim was to report a national survey on the diagnosis, management, and outcome of patients with congenital H-TEF. Methods: Following approval of the Italian Society of Pediatric Surgery, a survey was sent to all Pediatric Surgery Units to retrospectively collect H-TEF treated in the period 2010–2022. Descriptive analysis was performed, and results are given as prevalence, mean ± standard deviation (SD), or median and interquartile range (IQR). Results: The survey was sent to 65 units. Seventeen responded with one or more cases; 78 patients were diagnosed with H-TEF during the study period. Associated malformations were present in 43%, mostly cardiac (31%). The most frequent symptoms were cough (36%), bronchopneumonia (24%), and dysphagia (19%). H-TEF was detected by tracheobronchoscopy (90%), and/or upper GI (58%), and/or esophagoscopy (32%). The median age at diagnosis was 23 days (1 day–18 years). The most common approach was cervicotomy (76%), followed by thoracoscopy (14%) and thoracotomy (9%). The fistula underwent ligation and section of the fistula in 90% of the patients and clip closure and section in 9%. In one patient, the fistula was cauterized endoscopically. H-TEF preoperative cannulation was performed in 68% of cases, and a drain was placed in 26%. One month after surgery, 13% of the patients had mild persisting symptoms, mainly hypophonia. Recurrence occurred in 5%, and a second recurrence occurred in 1%. Conclusions: H-TEF prevalence was six cases/year, consistent with the expected rate of five cases/year in our country. The diagnosis was challenging, sometimes delayed, and, in most patients, required multiple examinations. Fistula ligation and section through cervicotomy were the most frequent treatment. Long-term outcomes are good, and recurrence is a rare event. Full article

The EA-QOL questionnaire measures quality-of-life specifically for children born with esophageal atresia (EA) aged 8–18 and was completed in Sweden and Germany. This study aimed to describe an international collaborative initiative to establish a semantically equivalent linguistic version of the EA-QOL questionnaires in 12 new countries. The 24-item EA-QOL questionnaire was translated into the target languages and the translated questionnaire was evaluated through cognitive debriefing interviews with children with EA aged 8–18 and their parents in each new country. Participants rated an item as to whether an item was easy to understand and sensitive/uncomfortable to answer. They could choose not to reply to a non-applicable/problematic item and provide open comments. Data were analyzed using predefined psychometric criteria; item clarity ≥80%, item sensitive/uncomfortable to answer ≤20%, item feasibility(missing item responses ≤5%). Decision to improve any translation was made by native experts–patient stakeholders and the instrument developer. Like in Sweden and Germany, all items in the cross-cultural analysis of child self-report (n_tot = 82, 4–10 children/country) met the criteria for item clarity in all 12 new countries, and in parent-report (n_tot = 86, 5–10 parents/country) in 8/12 countries. All items fulfilled the criteria for sensitive/uncomfortable to answer (child-report 1.2–9.9%; parent-report 0–11.6%) and item feasibility. Poor translations were resolved. Hence, this study has established semantically equivalent linguistic versions of the EA-QOL questionnaire for use in children aged 8–18 with repair of EA in and across 14 countries. Full article

Esophageal atresia (EA) is the most common malformation of the upper gastrointestinal tract. The estimated incidence of EA is 1 in 3500 births. EA is more frequently observed in boys and in twins. The exact cause of isolated EA remains unknown; a multifactorial etiology, including epigenetic gene expression modifications, is considered. The study included six pairs of twins (three pairs of monozygotic twins and three pairs of dizygotic twins) in which one child was born with EA as an isolated defect, while the other twin was healthy. DNA samples were obtained from the blood and esophageal tissue of the child with EA as well as from the blood of the healthy twin. The reduced representation bisulfite sequencing (RRBS) technique was employed for a whole-genome methylation analysis. The analyses focused on comparing the CpG island methylation profiles between patients with EA and their healthy siblings. Hypermethylation in the promoters of 219 genes and hypomethylation in the promoters of 78 genes were observed. A pathway enrichment analysis revealed the statistically significant differences in methylation profile of 10 hypermethylated genes in the Rho GTPase pathway, previously undescribed in the field of EA (ARHGAP36, ARHGAP4, ARHGAP6, ARHGEF6, ARHGEF9, FGD1, GDI1, MCF2, OCRL, and STARD8). Full article