Tracheoesophageal Fistula With Esophageal Atresia: A Case Series.

Tracheoesophageal fistula (TEF) with or without esophageal atresia (EA) results from maldevelopment of the trachea and esophagus during maturation of the primitive foregut. EA/TEF commonly presents shortly after birth because of increased oral secretions and the inability to advance a nasogastric or orogastric tube to the proper depth. Given that prenatal diagnosis is uncommon and early intervention is important to reduce morbidity and mortality risk, early recognition and diagnosis are imperative. We present a case series of two neonates diagnosed with EA/TEF, type "C" and type "E," born at low-acuity centers, who required transport to a tertiary center for surgical support. The pathophysiology as well as types of TEFs, symptomology, stabilization goals, corrective treatment, and long-term implications will be examined. Finally, the educational needs of parents and caregivers will be discussed.

Esophageal Atresia Associated with Congenital Duodenal Obstruction: Turkish Esophageal Atresia Registry (TEAR) Evaluation.

INTRODUCTION: Coexistent congenital duodenal obstruction and esophageal atresia (EA) is known to have significant morbidity and mortality. Management strategies are not well-defined for this association. The data from the Turkish EA registry is evaluated. MATERIALS AND METHODS: A database search was done for the years 2015 to 2022. RESULTS: Among 857 EA patients, 31 (3.6%) had congenital duodenal obstruction. The mean birth weight was 2,104 (± 457) g with 6 babies weighing less than 1,500 g. Twenty-six (84%) had type C EA. The duodenal obstruction was complete in 15 patients and partial in 16. Other anomalies were detected in 27 (87%) patients. VACTERL-H was present in 15 (48%), anorectal malformation in 10 (32%), a major cardiac malformation in 6 (19%), and trisomy-21 in 3 (10%). Duodenal obstruction diagnosis was delayed in 10 (32%) babies for a median of 7.5 (1-109) days. Diagnosis for esophageal pathologies was delayed in 2. Among 19 babies with a simultaneous diagnosis, 1 died without surgery, 6 underwent triple repair for tracheoesophageal fistula (TEF), EA, and duodenal obstruction, and 3 for TEF and duodenal obstruction in the same session. A staged repair was planned in the remaining 9 patients. In total, 15 (48%) patients received a gastrostomy, the indication was long-gap EA in 8. Twenty-five (77%) patients survived. The cause of mortality was sepsis (n = 3) and major cardiac malformations (n = 3). CONCLUSION: Congenital duodenal obstruction associated with EA is a complex problem. Delayed diagnosis is common. Management strategies regarding single-stage repairs or gastrostomy insertions vary notably depending on the patient characteristics and institutional preferences.

Impact of digestive-surgical cross-disciplinary management in patients with esophageal atresia. / Impacto del manejo multidisciplinar digestivo-quirúrgico en los pacientes con atresia de esófago.

OBJECTIVE: The objective of this study was to analyze whether patients undergoing esophageal atresia (EA) surgery benefit from a cross-disciplinary follow-up program, based on current clinical guidelines, implemented in our institution. MATERIALS AND METHODS: An observational, analytical, retrospective study of patients undergoing EA surgery from 2012 to 2022 was carried out. The results of a joint pediatric surgery and gastroenterology consultation program -which was implemented in 2018 and applies a protocol based on the new ESPGHAN-NASPGHAN guidelines- were analyzed. Patients were divided according to whether they had been treated before or after 2018. Quantitative variables -follow-up losses, anti-reflux treatment initiation and duration, and enteral nutrition initiation- and qualitative variables -prevalence of gastroesophageal reflux, anti-reflux surgery, respiratory infections, anastomotic stenosis, re-fistulizations, dysphagia, impaction episodes, need for gastrostomy, and endoscopic results- were compared. RESULTS: 38 patients were included. 63.2% had gastroesophageal reflux. 97.4% received anti-reflux treatment in the first year of life, with treatment being subsequently discontinued in 47.4%. Discontinuation time decreased by a mean of 24 months following program implementation (p< 0.05). A 4.6-fold increase in the frequency of pH-metries was noted following program implementation. The protocol standardized endoscopies in asymptomatic patients when they turn 5 and 10 years old. 25 endoscopies with biopsy were carried out after 2018, with histological disorders being detected in 28% of them. The number of follow-up losses significantly decreased following protocol implementation (p< 0.05). CONCLUSIONS: Digestive-surgical cross-disciplinary follow-up of EA patients has a positive impact on patient progression. Applying the guidelines helps optimize treatment and early diagnosis of complications.

OBJETIVOS: El objetivo de este estudio es analizar si los pacientes intervenidos de atresia de esófago (AE) se benefician de un programa de seguimiento multidisciplinar, basado en las guías clínicas actuales, implantado en nuestro centro. MATERIAL Y METODOS: Estudio retrospectivo, observacional y analítico incluyendo los pacientes intervenidos de AE entre 2012 y 2022. Se analizaron los resultados de la implantación en 2018 de un programa de consultas conjuntas de gastroenterología y cirugía pediátrica aplicando un protocolo basado en las nuevas guías ESPGHAN-NASPGHAN. Se dividieron a los pacientes tratados antes y después de 2018 y se compararon las variables cuantitativas: pérdidas de seguimiento, inicio y duración del tratamiento antirreflujo e inicio de nutrición enteral, y cualitativas: prevalencia de reflujo gastroesfoágico, realización de cirugía antirreflujo, infecciones respiratorias, estenosis de la anastomosis, refistulizaciones, disfagia, episodios de impactación, necesidad de gastrostomía y resultados de las endoscopias. RESULTADOS: Se incluyeron 38 pacientes. Un 63,2% presentaron reflujo gastroesofágico. El 97,4% tomaron tratamiento antirreflujo el primer año de vida que posteriormente se retiró en el 47,4%. El tiempo de retirada se redujo una media de 24 meses tras la aplicación del programa (p< 0,05). Se realizaron 4,6 veces más pHmetrías tras la implantación del programa. El protocolo estandarizó la realización de endoscopias en pacientes asintomáticos al cumplir 5 y 10 años. Se realizaron 25 endoscopias con tomas de biopsia después de 2018, detectando alteraciones histológicas en un 28%. El número de pérdidas de seguimiento se redujo de forma significativa tras la implantación del protocolo (p< 0,05). CONCLUSIONES: El seguimiento multidisciplinar digestivo-quirúrgico de los pacientes con AE genera un impacto positivo en su evolución. La aplicación de las guías facilita la optimización del tratamiento y el diagnóstico precoz de las complicaciones.

Diagnosis and management of congenital type D esophageal atresia.

This study was performed to describe the current clinical practice and outcomes of type D esophageal atresia. We retrospectively analyzed 10 patients who were diagnosed with type D esophageal atresia and underwent esophageal atresia and tracheoesophageal fistula repair in the Capital Institute of Pediatrics and Beijing Children's Hospital from January 2017 to May 2022. Ten patients include three newborns and seven non-newborns. Seven (70%) cases were misdiagnosed as type C esophageal atresia before the first operation. Three neonatal children underwent thoracoscopic distal tracheoesophageal fistula ligation and esophageal anastomosis: the proximal tracheoesophageal fistula was simultaneously repaired with thoracoscopy in one of these children, and the proximal tracheoesophageal fistula was not detected under thoracoscopy in the other two children. Among the seven non-neonatal children, one underwent repair of the proximal tracheoesophageal fistula through the chest and the other six underwent repair through the neck. Nine patients were cured, and one died of complications of severe congenital heart disease. Type D esophageal atresia lacks specific clinical manifestations. Misdiagnosis as type C esophageal atresia is the main cause of an unplanned reoperation. Patients without severe malformations have a good prognosis.

Recent Advances in the Genetic Pathogenesis, Diagnosis, and Management of Esophageal Atresia and Tracheoesophageal Fistula: A Review.

Infants born with esophageal atresia and tracheoesophageal fistula, a complex congenital malformation occurring in 1/2500-4000 live births, may suffer threats to their cardiac, respiratory, and digestive health in addition to anomalies that may exist in the genitourinary and musculoskeletal systems. Optimal care for these patients throughout their lives is best achieved through a coordinated, multidisciplinary approach that our health care system is not always well-equipped to provide. This review, though not exhaustive, highlights the components of care that pertain to initial surgical reconstruction and subsequent diagnosis and management of the complications that are most frequently encountered. Authors from among the many specialties involved in the care of these patients summarize the current best practice with attention to the most recent advances. Assessment and improvement of quality of life and transition to adult specialists as children grow to adulthood is also reviewed.

Prognosis and clinical issues of esophageal atresia in extremely low birth weight neonates: a case series.

BACKGROUND: Esophageal atresia (EA) in extremely low birth weight (ELBW) neonates is rare. This report aims to clarify EA's clinical courses and prognosis in ELBW neonates and the clinical issues of long-term survival cases. METHODS: A retrospective analysis was conducted for 8 neonates diagnosed with esophageal atresia. Medical records of ELBW EA neonates treated at our institution were reviewed to assess patient demographics, clinical courses, and outcomes. Transferred patient data was obtained from their local physicians through questionnaires. RESULTS: EA in ELBW neonates were included in 8 of EA infants (7%). Fatal respiratory and cardiovascular complications of trisomy 18 and complications related to immaturity such as liver failure and pulmonary hypertension were associated with poor prognosis. During primary operations, gastrostomy and esophageal banding were performed together in 50% of the cases, while gastrostomy was performed alone in 25%. The esophageal anastomosis was not performed during any primary operation. All causes of death, except for 1 case, were due to non-surgical causes. A long-term survival case of 17 years postoperatively was included. CONCLUSION: Although ELBW EA has a poor prognosis, long-term survival is possible in some cases, so aggressive therapeutic intervention is considered essential. It is important to share information about the prognosis with parents and multidisciplinary specialists and to select an appropriate treatment strategy for each case.

Type III congenital pulmonary airway malformation associated with oesophageal atresia and tracheoesophageal fistula. A case report and review of literature.

Congenital pulmonary airway malformation (CPAM) together with oesophageal atresia and tracheoesophageal fistula (TOF) is a very rare condition in neonates. We presented a case of an infant with Gross type C oesophageal atresia with TOF coexisting with Stocker Type III CPAM in our centre. It is interesting to know that TOF associated with type III CPAM has never been reported in the literature. The child was delivered through caesarean section, and because of respiratory distress post-delivery, endotracheal intubation was carried out immediately. CPAM was diagnosed by a suspicious finding from the initial chest X-ray and the diagnosis was confirmed through computed tomography scan of the chest. The patient was initially stabilised in a neonatal intensive care unit (NICU), and after the successful ligation of fistula and surgical repair of TOF, lung recruitment was started by high flow oscillatory ventilation. The patient recovered well without complications and able to maintain good saturation without oxygen support through the stay in the neonatal unit. Early recognition of this rare association is essential for immediate transfer to NICU, the intervention of any early life-threatening complications, and for vigilant monitoring in the postoperative period.

The International Network on Oesophageal Atresia (INoEA) consensus guidelines on the transition of patients with oesophageal atresia-tracheoesophageal fistula.

Oesophageal atresia-tracheoesophageal fistula (EA-TEF) is a common congenital digestive disease. Patients with EA-TEF face gastrointestinal, surgical, respiratory, otolaryngological, nutritional, psychological and quality of life issues in childhood, adolescence and adulthood. Although consensus guidelines exist for the management of gastrointestinal, nutritional, surgical and respiratory problems in childhood, a systematic approach to the care of these patients in adolescence, during transition to adulthood and in adulthood is currently lacking. The Transition Working Group of the International Network on Oesophageal Atresia (INoEA) was charged with the task of developing uniform evidence-based guidelines for the management of complications through the transition from adolescence into adulthood. Forty-two questions addressing the diagnosis, treatment and prognosis of gastrointestinal, surgical, respiratory, otolaryngological, nutritional, psychological and quality of life complications that patients with EA-TEF face during adolescence and after the transition to adulthood were formulated. A systematic literature search was performed based on which recommendations were made. All recommendations were discussed and finalized during consensus meetings, and the group members voted on each recommendation. Expert opinion was used when no randomized controlled trials were available to support the recommendation. The list of the 42 statements, all based on expert opinion, was voted on and agreed upon.

Combined esophageal and duodenal atresia: A review of the literature from 1950 to 2020.

The combination of duodenal atresia (DA) and esophageal atresia (EA) is very rare. With improvements in prenatal sonography and the use of fetal magnetic resonance imaging (MRI), these malformations can be diagnosed in a more accurate and timely manner; polyhydramnios remains the most common sign despite having a low specificity. The high rate of associated anomalies (in 85% of cases) can also impact neonatal management and increase the morbidity rate; thus, it is of paramount importance to look for every possible associated malformation, such as VACTERL and chromosomic anomalies. The surgical management of this combination of atresias is not well defined and changes according to the patient's clinical status, the type of EA, and the other associated malformations. Management ranges from a primary approach for one of the atresias with delayed correction of the other (56.8%) to a simultaneous repair of both atresias (33.8%) with or without gastrostomy, or total abstention (9.4%). We suggest that a simultaneous approach can be safely performed on patients in good physical condition, with a birth weight over 1500 g, and with no major respiratory distress; this method begins by closing the tracheoesophageal fistula to protect the lung and then repairing the DA. The mortality rate has decreased over the years, dropping from 71% before 1980 to 24% after 2001. In this review, we present the available evidence on these conditions, focusing mostly on the epidemiology, prenatal diagnosis, neonatal management strategies, and outcome, with the aim of determining how the different clinical features and surgical approaches may impact on morbidity and mortality.

A newborn with ectrodactyly, tetralogy of Fallot, esophageal atresia, hypospadias and TP63 gene mutation: A new type of EEC Syndrome?

EEC syndrome is an autosomal dominant genetic disease with incomplete penetrance characterized by ectrodactyly, ectodermal dysplasia, and cleft lip/palate; these manifestations can differently occur in the affected subjects and can also be associated with other anomalies, such as in the urogenital tract.We reported the case of a newborn with prenatal diagnosis of EEC type 3 associated with severe cardiac abnormalities (Tetralogy of Fallot), high esophageal atresia with fistula and penoscrotal hypospadias.

[Combination of esophageal atresia with proximal tracheoesophageal fistula and meconium peritonitis: a case report]. / Sochetanie atrezii pishchevoda s proksimal'nym trakheopishchevodnym svishchom i mekonievogo peritonita.

We report a patient with combination of esophageal atresia, proximal tracheoesophageal fistula and meconium peritonitis. These two rare disorders have different etiology, pathogenetic mechanisms and require different diagnostic manipulations and surgical treatments. The authors discuss the features of diagnosis and surgical treatment of this disease.

[Epidemiological, clinical and therapeutic profile of esophageal atresia at the Mother and Child University Hospital of the Jeanne Ebori Foundation from 2019 to 2020]. / Profil épidémiologique, clinique et thérapeutique des atrésies de l'œsophage au Centre Hospitalier Universitaire Mère-Enfant Fondation Jeanne Ebori de Libreville de 2019 à 2020.

Esophageal atresia is a congenital malformation incompatible with life. Its management in our context is difficult. The purpose of this study was to determine the clinical, therapeutic and epidemiological profile of esophageal atresia at the Mother and Child University Hospital of the Jeanne Ebori Foundation from 2019 to 2020. We conducted a retrospective study in the Neonatal Medicine and Pediatric Surgery Department of Mother and Child University Hospital of the Jeanne Ebori Foundation over a 2-year period from January 1, 2019 to December 31, 2020. We collected data from the medical records of 10 newborns diagnosed with esophageal atresia. The prevalence of neonatal surgical emergencies was 11% (n=10/89). Mean gestational age of patients was 37 WA+2, ranging from 34WA+2 days to 40WA+2 days; mean life span was 3.7 days with extremes of D0 and D7. Sex ratio was 1. The average birth weight was 2636 grams, ranging from 1460 g to 3425g; mean time between symptom onset and diagnosis was 4 days. Type III accounted for 70% of anatomical shapes. Mean waiting time for surgery was 0.8 days, ranging from D0 to D3. The average length of stay in hospital was 9.3 days, ranging from 1 to 38 days. Nine out of 10 patients underwent surgery. Only 2 patients survived, with a follow-up period of at least one year without sequelae. The management of esophageal atresia is still precarious in our context. Diagnostic delay is the main challenge. Improvement in prognosis involves improvement in anesthetic, surgical and neonatal technical equipment.

Systematic review of long term follow-up and transitional care in adolescents and adults with esophageal atresia - why is transitional care mandatory?

PURPOSE:  to review recent literature concerning long-term health issues and transitional care in esophageal atresia (EA) patients. PubMed, Scopus, Embase and Web of Science databases were screened for studies regarding EA patients aged more than or equal to 11 years, published between August 2014 and June 2022. Sixteen studies involving 830 patients were analyzed. Mean age was 27.4 years (range 11-63). EA subtype distribution was: type C (48.8%), A (9.5%), D (1.9%), E (0.5%) and B (0.2%). 55% underwent primary repair, 34.3% delayed repair, 10.5% esophageal substitution. Mean follow-up was 27.2 years (range 11-63). Long-term sequelae were: gastro-esophageal reflux (41.4%), dysphagia (27.6%), esophagitis (12.4%), Barrett esophagus (8.1%), anastomotic stricture (4.8%); persistent cough (8.7%), recurrent infections (4.3%) and chronic respiratory diseases (5.5%). Musculo-skeletal deformities were present in 36 out of 74 reported cases. Reduced weight and height were detected in 13.3% and 6% cases, respectively. Impaired quality of life was reported in 9% of patients; 9.6% had diagnosis or raised risk of mental disorders. 10.3% of adult patients had no care provider. Meta-analysis was conducted on 816 patients. Estimated prevalences are: GERD 42.4%, dysphagia 57.8%, Barrett esophagus 12.4%, respiratory diseases 33.3%, neurological sequelae 11.7%, underweight 19.6%. Heterogeneity was substantial (> 50%).   Conclusion: EA patients must continue follow-up beyond childhood, with a defined transitional-care path by a highly specialized multidisciplinary team due to the multiple long-term sequelae. WHAT IS KNOWN: • Survival rates of esophageal atresia patients is now more than 90% thanks to the improvements in surgical techniques and intensive care, therefore patients' needs throughout adolescence and adulthood must be taken into account. WHAT IS NEW: • This review, by summarizing recent literature concerning long term sequelae of esophageal atresia, may contribute to raise awareness on the importance of defining standardized protocols of transitional and adulthood care for esophageal atresia patients.

Adequate timing of diagnostic tests for gastroesophageal reflux in children with esophageal atresia. / Momento adecuado para las pruebas diagnósticas de reflujo esofágico en pacientes con atresia de esófago.

OBJECTIVE: Recent guidelines made recommendations for the management of gastroesophageal reflux in patients with esophageal atresia (EA). However, the timing for some diagnostic tests remained somehow unclear. This investigation studied the tests for gastroesophageal reflux in children aged one year old and children aged two or three. MATERIALS AND METHODS: Patients with EA who underwent Multichannel Intraluminal Impedance-pH monitoring (MII-pH) and endoscopy-histology were studied retrospectively. Patients aged one when the test was performed were the YO group and patients aged two or three years old formed the OL group. Substantially impaired MII-pH was defined as total number of reflux episodes >105 or >85 (depending on age), or reflux index >10%. Substantially impaired endoscopy was defined as erosive esophagitis or Barrett's esophagus. Substantially impaired histology was defined as moderate-severe esophagitis or Barrett's esophagus. Conventional parameters and substantially impaired values of the tests were compared. RESULTS: Twenty-four patients were studied. Twenty-three MII-pH were performed (12 in YO and 11 in OL): percentages of abnormal conventional parameters of MII-pH were not significantly different in both groups. Twenty endoscopies with biopsies were performed (7 in YO and 13 in OL): percentages of esophagitis were not significantly different. Interestingly, 26.9% of all the tests performed in YO were substantially impaired vs. 10.8% of all the tests in OL (χ2 = 2.7; p = 0.1). CONCLUSION: Considering the percentage of alarming results of diagnostic tests in the YO group it would be advisable that patients with EA undergo MII-pH and endoscopy-histology at one year of age.

OBJETIVOS: Recientemente se han publicado recomendaciones para el manejo del reflujo gastroesofágico en pacientes con atresia de esófago (AE). Sin embargo, el momento de realización de algunas pruebas no está completamente aclarado. Esta investigación evalúa las pruebas para reflujo gastroesofágico en niños de 1 año y niños de 2-3 años. MATERIAL Y METODOS: Estudio retrospectivo de pacientes con AE sometidos a impedanciometría-phmetría (IMpH) y a endoscopia-histología. Los pacientes con 1 año en el momento de la prueba formaron el grupo MEN, y los pacientes con 2-3 años, el grupo MAY. Se consideró IMpH sustancialmente alterada aquella con un número total de reflujos >105 o >85 (según la edad), o un índice de reflujo >10%. La endoscopia se consideró sustancialmente alterada si presentaba esofagitis erosiva o esófago de Barrett. La histología se consideró sustancialmente alterada si presentaba esofagitis severa-moderada o esófago de Barrett. Se compararon los parámetros convencionales y los sustancialmente alterados. RESULTADOS: Se estudiaron 24 pacientes. Se realizaron 23 IMpH (12 en el grupo MEN y 11 en el MAY); los porcentajes de los parámetros convencionales patológicos no fueron estadísticamente diferentes en ambos grupos. Se realizaron 20 endoscopias (7 en el grupo MEN y 13 en el MAY); los porcentajes de esofagitis no fueron estadísticamente diferentes. El 26,9% de todas las pruebas en el grupo MEN resultaron sustancialmente alteradas, frente al 10,8% en el MAY (χ2 = 2,7; p = 0,1). CONCLUSION: Teniendo en cuenta el porcentaje de resultados alarmantes en el grupo MEN, sería recomendable realizar una IMpH y una endoscopia con biopsias a los pacientes con AE a la edad de un año.

Retrospective evaluation of clinical and molecular data of 148 cases of esophageal atresia.

Developmental abnormalities provide a unique opportunity to seek for the molecular mechanisms underlying human organogenesis. Esophageal development remains incompletely understood and elucidating causes for esophageal atresia (EA) in humans would contribute to achieve a better comprehension. Prenatal detection, syndromic classification, molecular diagnosis, and prognostic factors in EA are challenging. Some syndromes have been described to frequently include EA, such as CHARGE, EFTUD2-mandibulofacial dysostosis, Feingold syndrome, trisomy 18, and Fanconi anemia. However, no molecular diagnosis is made in most cases, including frequent associations, such as Vertebral-Anal-Cardiac-Tracheo-Esophageal-Renal-Limb defects (VACTERL). This study evaluates the clinical and genetic test results of 139 neonates and 9 fetuses followed-up at the Necker-Enfants Malades Hospital over a 10-years period. Overall, 52 cases were isolated EA (35%), and 96 were associated with other anomalies (65%). The latter group is divided into three subgroups: EA with a known genomic cause (9/148, 6%); EA with Vertebral-Anal-Cardiac-Tracheo-Esophageal-Renal-Limb defects (VACTERL) or VACTERL/Oculo-Auriculo-Vertebral Dysplasia (VACTERL/OAV) (22/148, 14%); EA with associated malformations including congenital heart defects, duodenal atresia, and diaphragmatic hernia without known associations or syndromes yet described (65/148, 44%). Altogether, the molecular diagnostic rate remains very low and may underlie frequent non-Mendelian genetic models.

Clinical Variables as Indicative Factors for Endoscopy in Adolescents with Esophageal Atresia.

INTRODUCTION: Gastro-esophageal reflux disease (GERD) occurs frequently in patients operated for esophageal atresia (EA). Longstanding esophagitis may lead to dysphagia, strictures, columnar metaplasia, and dysplasia with an increased risk of adenocarcinoma. Are clinical factors and non-invasive assessments reliable indicators for follow-up with endoscopy? MATERIAL AND METHOD: A follow-up study with inclusion of EA adolescents in Norway born between 1996 and 2002 was conducted. Clinical assessment with pH monitoring, endoscopy with biopsies, along with interviews and questionnaires regarding gastroesophageal reflux disease (GERD) and dysphagia were performed. RESULTS: We examined 68 EA adolescents. 62% reported GERD by interview, 22% by questionnaire. 85% reported dysphagia by interview, 71% by questionnaire. 24-hour pH monitoring detected pathological reflux index (RI) (>7%) in 7/59 (12%). By endoscopy with biopsy 62 (92%) had histologic esophagitis, of whom 3 (4%) had severe esophagitis. Gastric metaplasia was diagnosed in twelve (18%) adolescents, intestinal metaplasia in only one (1.5%). None had dysplasia or carcinoma. Dysphagia and GERD were statistically correlated to esophagitis and metaplasia, but none of the questionnaires or interviews alone were good screening instruments with high combined sensitivity and specificity. A compound variable made by simply taking the mean of rescaled RI and dysphagia by interview showed to be the best predictor of metaplasia (85% sensitivity, 67% specificity). CONCLUSION: The questionnaires and interviews used in the present study were not good screening instruments alone. However, combining dysphagia score by interview and RI may be helpful in assessing which patients need endoscopy with biopsy at each individual follow-up examination. LEVEL OF EVIDENCE: Level II prognostic study.

To assess the cell lines on esophagogastroduod enoscopies of children with feeding difficulty, esophageal fistula and asthma with histologic abnormality.

The purpose of this study is to evaluate the cell lines seen on esophagogastoduodenoscopy (EGD) of children who have difficulties feeding, esophageal fistula, and asthma that has some histologic abnormalities.  This is a study that looked back at the medical records of 100 children whose cells had been surgically restored after being impacted by EA or TEF. A review of the instrumental tests that were carried out at our facility has been conducted in order to identify any lingering anatomic or functional abnormalities of the airways and gastrointestinal system that would explain the pulmonary clinical images. Due to neurodevelopmental sequelae and the existence of tracheostomies, only 26 sets of pre and post-bronchodilator spirometry data were available for children. 100 children cells with esophageal atresia and tracheoesophageal fistula were included in the study. The average number of weeks spent in gestation was 37.01± 2.33, and the average weight of a newborn was 2614±77.69 grammes. Twenty percent of the children's cells exhibited a syndromic appearance, and the VACTERL connection was identified in seventeen percent of the patients. In all, 80% of the children cells in the sample reported having respiratory symptoms, with 85% of patients experiencing symptoms of the lower respiratory tract and 15% experiencing symptoms of the upper respiratory tract. It is common practice to attribute children's symptoms to reflux and esophageal anomalies, despite the presence of respiratory symptoms and aberrant findings discovered by flexible bronchoscopy and CT assessment.

Prenatal diagnosis of distal 13q deletion syndrome in a fetus with esophageal atresia: a case report and review of the literature.

BACKGROUND: Chromosome 13q deletion syndrome shows variable clinical features related to the different potential breakpoints in chromosome 13q. The severely malformed phenotype is known to be associated with the deletion of a critical region in 13q32. However, esophageal atresia is a rare symptom and the relevant region is unknown. Thus, determining the association between accurate breakpoints and new clinical features is essential. CASE PRESENTATION: A 28-year-old Japanese primigravid woman was referred for fetal growth restriction, absence of a gastric bubble, cerebellar hypoplasia, overlapping fingers, and polyhydramnios at 31 weeks gestation. At 38 + 0 weeks, she delivered a 1774 g female infant. The infant presented with isolated esophageal atresia (Gross type A), Dandy-Walker malformation, right microphthalmia, left coloboma, overlapping fingers, pleurocentrum in the thoracic vertebrae, reduced anogenital distance, and hearing loss. Her karyotype was diagnosed as 46,XX,del(13)(q32.1-qter) by amniocentesis, but array comparative genomic hybridization after birth revealed the deletion of 13q31.3-qter. At 48 days after birth, the infant underwent surgery for esophageal atresia and was later discharged from the hospital at 7 months of age. CONCLUSION: This case report and the literature reviews supports the previous findings on the pathological roles of haploinsufficiency of the ZIC2/ZIC5 in Dandy-Walker malformation and the EFBN2 haploinsufficiency in eye malformation and hearing loss. Furthermore, the possible involvement of IRS2, COLA1, and COLA2 in eye malformation were identified. This is the first case of 13q deletion syndrome with esophageal atresia (Gross A), but it may be a symptom of VATER/VACTER association (vertebral defects, anorectal malformations, cardiac defects, tracheoesophageal fistula with or without esophageal atresia, renal malformations, and limb defects), as in the previous cases. These symptoms might also be associated with EFBN2 haploinsufficiency, although further research is required.

Columnar Metaplasia of the Esophagus Presenting as Iron Deficiency Anemia in Children with Neurologic Impairment or Congenital Esophageal Atresia.

BACKGROUND Columnar metaplasia of the lower esophagus includes both gastric and intestinal metaplasia. Children with severe neurologic impairment and congenital esophageal atresia often have gastroesophageal reflux disease, which can lead to Barrett's esophagus, a form of lower esophageal columnar metaplasia and precursor to esophageal adenocarcinoma, with some, but not all, guidelines specifically requiring the presence of intestinal metaplasia for diagnosis. This case series illustrates how iron deficiency anemia may be the primary symptom of esophageal columnar metaplasia in such children and how upper endoscopy is essential in their initial and ongoing evaluation. CASE REPORT We review 5 cases of columnar metaplasia of the lower esophagus in children, 3 with severe neurologic impairment and 2 with esophageal atresia. Each child presented with marked iron deficiency anemia and minimal-to-no gastrointestinal symptoms. CONCLUSIONS We conclude that columnar metaplasia of the esophagus may present with iron deficiency anemia in children with neurologic impairment or congenital esophageal atresia, even if without overt gastrointestinal symptoms. Accordingly, we propose that early endoscopic evaluation should be considered in this specific patient population. Based on our literature review, we also emphasize the need for guidelines on the endoscopic surveillance of such children with any type of columnar metaplasia of the lower esophagus, given the associated risk of malignant transformation.