Search

Children with congenital tracheo-esophageal fistula and esophageal atresia need surgical intervention for their survival. Apart from the several gastro-intestinal and respiratory problems that often follow surgery, there is an increased risk of impaction of foreign body above the reconstructed esophagus that becomes stenosed and/or dysmotile. Here we illustrate a case of a six-year-old boy who underwent repair of a sporadic form of congenital tracheo-esophageal fistula with esophageal atresia at the age of three months, presenting with impaction of a glass marble above the repaired esophageal segment. This report adds to the long-term care of reconstructed aerodigestive tract in children in the form of strict vigilance from the parents and care-givers so as to keep them safe from small objects that can potentially result in impacted foreign bodies. [ABSTRACT FROM AUTHOR]

Tracheo-esophageal fistula (TEF) without associated esophageal atresia or H-type fistula is a rare congenital anomaly. H-type fistula is usually missed in the neonatal period as the presenting symptoms are either of recurrent pneumonia or gastro-esophageal reflux which always lead to delay in diagnosis and infant undergoes unnecessary treatment. We report a case of H-type of TEF, diagnosed within 12 days of birth based upon choking and cyanosis on the first trial of spoon feeds. Diagnosis was confirmed with contrast esophagogram. The infant was operated for it and was successfully discharged. [ABSTRACT FROM AUTHOR]

Anomalies in tracheo-esophageal development result in a spectrum of congenital malformations ranging from, most commonly, esophageal atresia with or without trachea-esophageal fistula (EA+/-TEF) to esophageal web, duplication, stricture, tracheomalacia and tracheal agenesis. Despite the relative frequency of EA, however, the underlying etiology remains unknown and is likely due to a combination of genetic, epigenetic and environmental factors. In recent years, animal models have dramatically increased our understanding of the molecular and morphological processes involved in normal esophageal development during the key stages of anterior-posterior regionalization, dorsal-ventral patterning and morphogenic separation. Moreover, the use of animal models in conjunction with increasingly advanced techniques such as genomic sequencing, sophisticated live imaging studies and organoid models have more recently cast light on potential mechanisms involved in EA pathogenesis. This article aims to unravel some of the mysteries behind the anatomy and embryology of EA whilst providing insights into future directions for research. [ABSTRACT FROM AUTHOR]

Background The presence of 13 pairs of ribs on pre-operative chest x-ray has been postulated to be an indicator for long gap esophageal atresia (EA). This study sought to determine the validity of this theory and identify associated pathological conditions in patients with EA and abnormal rib count. Methods Babies with EA from January 2005 – December 2012 were retrospectively analyzed. Information was gathered from neonatal health records and operation notes. Chest x-rays were reviewed to determine rib count. Long gap EA was defined as failure to achieve primary esophageal anastomosis. Statistical analysis performed with Fisher's exact test. Results Seventy-six patients were identified. Eight patients had long gap EA, with none of these patients having 13 pairs of ribs. Paradoxically, 10 patients with esophageal atresia +/− trachea-esophageal atresia (EA +/− TEF) and supernumerary ribs underwent primary repair. Nine patients had 11 pairs of ribs, of which 2 had pure EA and a long gap. Using Fisher's exact test to compare the groups of supernumary ribs and non-supernumary ribs there is a p value of 0.587. VACTERL association was identified in 40% of those with supernumerary ribs. Various associated syndromes and concomitant abnormalities were identified. Conclusion We found no association between 13 pairs of ribs and long gap in esophageal atresia. Those with 13 pairs of ribs were more likely to have associated anomalies, although this was not statistically significant. Our cohort of patients was found to have a range of pathology related to genetic syndromes, further atresias, and malformations, which is well known to be associated with children born with EA +/− TEF. Level of evidence Prognosis study – level IV. [ABSTRACT FROM AUTHOR]

INTRODUCTION Patients with combined esophageal atresia (EA), tracheoesophageal fistula (TEF), and duodenal atresia (DA) pose a rare management challenge. PRESENTATION OF CASE Three patients with combined esophageal atresia (EA), tracheoesophageal fistula (TEF), and duodenal atresia safely underwent a staged approach inserting a gastrostomy tube and repairing the EA/TEF first followed by a duodenoduodenostomy within one week. None of the patients suffered significant pre- or post-operative complications and our follow-up data (between 12 and 24 months) suggest that all patients eventually outgrow their reflux and respiratory symptoms. DISCUSSION While some authors support repair of all defects in one surgery, we recommend a staged approach. A gastrostomy tube is placed first for gastric decompression before TEF ligation and EA repair can be safely undertaken. The repair of the DA can then be performed within 3–7 days under controlled circumstances. CONCLUSION A staged approach of inserting a gastrostomy tube and repairing the EA/TEF first followed by a duodenoduodenostomy within one week resulted in excellent outcomes. [ABSTRACT FROM AUTHOR]

Background/Purpose Existing prediction models for tracheo-esophageal fistula (TEF) and esophageal atresia (EA) are derived from small single-institution populations treated over long periods. A prediction rule developed in a contemporary, multicenter cohort is important for counseling, tailoring therapy, and benchmarking outcomes. Methods Data were obtained from the 2003, 2006, and 2009 editions of the HCUP Kids’ Inpatient Database. Subjects included patients with admission age < three days and ICD-9 diagnostic classification of EA or TEF or procedural coding for TEF repair. An internally validated prediction rule for survival to discharge was developed using a stepwise logistic regression selection algorithm. Predictors included were sex, birth weight, gestational age, cardiac anomalies (major and minor), and chromosomal, other gastrointestinal, central nervous system, and renal anomalies. The model was evaluated for discrimination and calibration and compared with that of Spitz. Results An integer-based prediction model was created, identifying patients at high, intermediate, and low risk of death with very good discrimination (c = 0.723) and calibration. It is particularly effective at identifying the small population at highest risk of death. The model can be summarized as follows with patients first assigned a score for associated abnormalities: chromosomal abnormality = 6 points, major cardiac anomaly = 3 points, renal anomaly = 2 points, and weight less than 1500 g = 9 points. Point score cut-offs were 0–6 points low risk, 7–14 intermediate risk, and 15–20 high risk. Conclusions This model compares well with existing prediction models and more effectively discriminates the highest risk patients who may require tailored therapy. The Spitz model is also validated. [ABSTRACT FROM AUTHOR]

The first thoracoscopic esophageal atresia with tracheo-esophageal fistula (EATEF) repair was performed in March of 2000. This report evaluates the results and evolution of the technique over the last decade. Thoracoscopic esophageal atresia repair has proven to be an effective and safe technique. Initial experience resulted in a higher stricture rate but this improved with experience and changes in technique over the last decade. The outcomes are similar to or superior to that of an open thoracotomy and avoid the musculoskeletal morbidity associated with that technique. [ABSTRACT FROM AUTHOR]

Esophageal Atresia (EA) is a severe developmental defect of the foregut that presents with or without a Tracheo-Esophageal Fistula (TEF). The prevalence of EA/TEF over time and around the world has been relatively stable. EA/TEF is manifested in a broad spectrum of anomalies: in some patients it manifests as an isolated atresia or fistula, but in over half it affects several organ systems. While the associated malformations are often those of the VACTERL spectrum (Vertebral, Anorectal, Cardiac, Tracheo-Esophageal, Renal and Limb), many patients are affected by other malformations, such as microcephaly, micrognathia, pyloric stenosis, duodenal atresia, a single umbilical artery, and anomalies of the genitourinary, respiratory and gastrointestinal systems. Though EA/TEF is a genetically heterogeneous condition, recurrent genes and loci are sometimes affected. Tracheo-Esophageal (TE) defects are in fact a variable feature in several known single gene disorders and in patients with specific recurrent Copy Number Variations and structural chromosomal aberrations. At present, a causal genetic aberration can be identified in 11-12% of patients. In most, EA/TEF is a sporadic finding; the familial recurrence rate is low (1%). As this suggests that epigenetic and environmental factors also contribute to the disease, non-syndromic EA/TEF is generally believed to be a multifactorial condition. Several population-based studies and case reports describe a wide range of associated risks, including age, diabetes, drug use, herbicides, smoking and fetal alcohol exposure. The phenotypical and genetic heterogeneity seen in EA/TEF patients indicates not one underlying cause, but several. Unraveling the complex multifactorial and heterogeneous etiology of EA/TEF and associated features will require large cohorts of patients. Combined statistical analysis of component findings, genome sequencing, and genome wide association studies will elucidate new causal genetic defects and predisposing loci in the etiology within specific sub-populations. Improved knowledge of environmental risk factors, genetic predisposition and causal genetic syndromes may improve prediction and parental counseling, and prevent co-morbidity. [ABSTRACT FROM AUTHOR]

Abstract: Purpose: Aim of this systematic review is to investigate the thoracic and cervical surgical approaches of H-type tracheo-esophageal fistula (TEF) according to the position of the fistula. Methods: The PubMed database was searched for original studies on H-type TEF treatment published between 1977 and 2012. Manuscripts finally included were divided into open and thoracoscopic surgery groups. Results: Seventeen studies were selected for open surgery group, and most of them agree on the importance of pre-operative diagnosis of the fistula by preliminary tracheoscopy. Right cervicotomy was used in 70 cases (76.9%), left cervicotomy in 12 (13.2%), and thoracotomy only in 9 (9.9%). Five studies were included in thoracoscopic group (6 patients). Indications for the surgical approach (cervical vs thoracic) according to the position of the TEF were clearly described in 10 manuscripts, and all stated differences in surgical technique details. Complications and mortality rates were not statistically correlated to the different surgical approaches. Conclusions: The evidence base in regard to the treatment of H-type fistula in children is poor and the skills and preferences of the surgeons guide the choice of the procedure. Surgical division of the fistula is curative, and the key to a successful repair is the pre-operatively identification of the level of the fistula with tracheoscopy. Right cervicotomy seems to be the approach of choice in the majority of case, with the thoracic approach appropriate only for fistulae opening below T2. Further well-designed prospective studies which take into account of selection and performance bias are strongly required. [Copyright &y& Elsevier]

Communicating bronchopulmonary foregut malformations are a diverse group of congenital anomalies characterized by a fistula between the respiratory and alimentary systems. Among these malformations, the association of an esophageal lung with esophageal atresia (EA) and tracheo-esophageal fistula (TEF) is extremely rare. We report the case of a neonate with esophageal lung detected following the primary repair of EA with TEF. Despite the rarity of esophageal lung with EA and TEF, it should be considered to develop in infants with abnormal findings on chest radiographs and an unusual preoperative and/or in the postoperative clinical course of EA and TEF. Swallowing study with water-soluble contrast medium is the investigation of choice to demonstrate the anatomic connection, if EA and TEF were already primarily repaired. If not, although the use of preoperative CT may be debatable in neonates due to the associated radiation exposure, in selected cases such as our patient, preoperative CT can be useful for early preoperative diagnosis. [ABSTRACT FROM AUTHOR]

Esophageal atresia and tracheo-esophageal fistula are severe congenital malformations, whose etiology is still poorly understood. So far, numerous genetic and environmental factors that may contribute to the occurrence of these defects have been described and the literature is dominated by the view of their common involvement in the etiology and pathogenesis of congenital esophageal atresia. In this review the authors present current knowledge on the embryogenesis of the esophagus and trachea, discuss environmental risk factors, and also list and describe genetic alterations identified so far in patients with congenital esophageal atresia. [ABSTRACT FROM AUTHOR]

A 69-year-old male patient, a known case of squamous cell carcinoma of the esophagus on palliative care and Do Not Attempt Resuscitation (DNAR) status, presented for urgent laparoscopic gastrostomy tube insertion under general anesthesia. The patient had developed an iatrogenic tracheoesophageal fistula (TEF) because of the tracheal stent, which was placed for tracheal stenosis. A preoperative assessment was done, and a plan of airway management via one-lung ventilation (OLV) through an endobronchial tube was devised by the anesthesia team and discussed with the surgery team. The airway was secured via asleep fiberoptic right endobronchial intubation using a microlaryngeal tube (MLT) size 6 since there was uncertainty regarding adequate patency of the airway due to the invasion by the tumor and the presence of the stent. The patient remained hemodynamically stable. After surgical incision and insufflation of CO 2 in the abdominal cavity, the patient's airway pressures were increased and we were unable to deliver adequate tidal volumes. Surgery was stopped; the presence of a kink in the circuit or endotracheal tube (ETT), the possibility of laryngospasm/bronchospasm, and pneumothorax were ruled out. Fiberoptic bronchoscopy (FOB) revealed that the endobronchial tube was abutting the secondary carina. We pulled the MLT by 2 cm. The rest of the procedure was uneventful and we extubated the patient at the end of the procedure under vision using a fiber optic bronchoscope. The patient was discharged after two days of stay in the hospital. Our patient with TEF and tracheal stent posed a significant challenge for airway management. A thorough plan was drawn up and a team briefing was done. Perioperatively, the difficulty in ventilation was identified, and various other etiologies were ruled out with the successful identification and management of the problem., Competing Interests: The authors have declared that no competing interests exist., (Copyright © 2022, Ashraf et al.)

Background: Primary surgical repair forms the definitive treatment of esophageal atresia. Long-term survival rates and patient morbidity after repair still remains a problem especially in developing countries. Postoperative morbidity depends on the incidence of anastomotic leak, gastroesophageal reflux, strictures, and recurrent fistula formation. Purpose: To describe the frequency of different findings at fluoroscopic evaluation of postoperative esophagus in children following repair for esophageal atresia with or without tracheo-esophageal fistula. Material and Methods: Hospital records and upper gastrointestinal contrast studies of 210 patients following repair for esophageal atresia with or without a tracheo-esophageal fistula were reviewed by two pediatric radiologists. All children underwent surgery in the first few days of life (days 1–6). Fluoroscopic contrast study was performed at various intervals after surgery in children with suspected complications or feeding difficulties. Results: Images from upper gastrointestinal contrast studies of 210 patients (126 boys, 84 girls) were evaluated and recorded. Findings were recorded as normal postoperative appearances (37.1%) and complications/sequelae, which included strictures (33.8%), minor and major leaks (11.9%), reflux (13.8%), motility problems (7.1%), persistent fistula (3.8%), diverticulae formation (4.7%), and hiatus hernia (2.1%). Conclusion: Strictures, leaks, and reflux are the most common complications of esophageal atresia repair. Knowledge of various postoperative appearances would be useful for planning an appropriate management strategy in these children. [ABSTRACT FROM AUTHOR]

Purpose Esophageal atresia and tracheo-esophageal fistula (EA-TEF) result from abnormal division of the foregut into esophagus and trachea thus, it may influence airway branching and lung development. The present study examined lung morphogenesis in fetuses with EA-TEF focusing in the expression of FGF10 and its receptor FGFR2 IIIb. Methods Pregnant rats received either 1.75 mg/kg i.p. adriamycin or vehicle on E7, E8 and E9. Embryos were recovered at E15, E18 and E21 and lungs processed for immunohistochemistry and RT-PCR. Three groups were studied: control, adriamycin-exposed with EA-TEF, and adriamycin-exposed without EA-TEF. Comparisons were performed with Mann–Whitney or t tests (significance level, 5 %). Results Lung weight at E15 and E18 were significantly lower in adriaEA fetuses in which the relative mRNA levels of FGF10 were significantly higher. These differences disappeared near term. The receptor FGFR2 IIIb messenger was only significantly increased in adria noEA fetuses at E15. Immunohistochemical study was consistent with these findings. Conclusions Abnormal expression of FGF10 during earlier stages of development, when the lungs are smaller than controls, suggests a compensatory response aimed at ‘‘catching up’’ delayed tracheobronchial branching. Whether similar changes take place in the human condition and influence respiratory physiology remain to be determined. [ABSTRACT FROM AUTHOR]

Background: VATER association was first described in 1972 by Quan and Smith as an acronym which identifies a non-random co-occurrence of Vertebral anomalies, Anal atresia, Tracheoesophageal fistula and/or Esophageal atresia, Radial dysplasia. It is even possible to find out Cardiovascular, Renal and Limb anomalies and the acronym VACTERL was adopted, also, embodying Vascular, as single umbilical artery, and external genitalia anomalies. Methods: Data on patients with esophageal atresia (EA) with or without tracheoesophageal fistula (TEF) admitted in the Neonatal Intensive Care Unit (NICU) between January 2003 and January 2013 were evaluated for the contingent occurrence of typical VACTERL anomalies (VACTERL-type) and non tipical VACTERL anomalies (non- VACTERL-type). The inclusion criterion was the presence of EA with or without TEF plus two or more of the following additional malformations: vertebral defects, anal atresia, cardiovascular defects, renal anomalies and lower limb deformities, like radial dysplasia. Results: Among 52 patients with EA/TEF, 20 (38,4%) had isolated EA and 7 (21,8%) had a recognized etiology such a syndrome and therefore were excluded. Among 32 infants with EA and associated malformations, 15 (46,8%) had VACTERL association. The most common anomalies were congenital heart defects (73,3%), followed by vertebral anomalies (66,6%). Many patients also had additional non-VACTERL-type defects. Single umbilical artery was the most common one followed by nervous system abnormalities and anomalies of toes. Between the groups of infants with VACTERL type and non-VACTERL-type anomalies, there are several overlapping data regarding both the tipically described spectrum and the most frequently reported non-VACTERL-type malformations. Thus, it is possible to differentiate infants with a full phenotype (VACTERL full phenotype) and patients that do not meet all the criteria mentioned above, but with some homologies with the first group (VACTERL partial phenotype). Conclusion: The high frequency of non-VACTERL-type anomalies encountered in full and partial phenotype patients would suggest the need for an extension of the clinical criteria for the diagnosis of VACTERL association and also for pre- and post-operative management and follow-up in the short and long term. [ABSTRACT FROM AUTHOR]

An ingested foreign body lodged in the esophagus is common in children. Button batteries impacted in the esophagus need early diagnosis and intervention to avoid complication. We report a case of neglected button battery impacted in the upper esophagus in a 15-month-old female child. The problems encountered during the course of management have been discussed along with the review of the literature. Button battery ingestions in children need to be considered as an emergency and prompt endoscopic removal should be advocated. Rigid esophagoscopy is the gold standard technique of removing esophageal foreign bodies. Complication must be anticipated and managed at the earliest. [ABSTRACT FROM AUTHOR]

The incidence of tracheo-esophageal (TO) fistula is on the rise, especially after palliative management for esophageal malignancies. We report a case of cancer of esophagus who after chemotherapy and radiotherapy developed TO fistula. Placement of an esophageal stent helped him in taking food orally, but his cough and dyspnoea continued to worsen. Fibreoptic bronchoscopy demonstrated a severely compressed trachea secondary to protrusion of esophageal stent which responded very well to an Ultraflex-covered tracheal stent and the patient achieved relief from cough and dyspnoea. [ABSTRACT FROM AUTHOR]

Background/Aim Patients with esophageal atresia and tracheo-esophageal fistula (EA-TEF) have chronic respiratory tract disease and deficient tracheal innervation. This study tests the hypothesis in rats with EA-TEF that deficient lung innervation could be one of the causes of respiratory disease.Material and Methods Pregnant rats were treated with either 2 mg/kg i.p. adriamycin or vehicle on E7, E8 and E9. Lungs and tracheas were retrieved on E15, E18 and E21 (term: E22). Innervation was examined by regular (PGP 9.5 and GDNF) and whole-mount (PGP 9.5 and α-actin) immunohistochemistry. PGP 9.5 and GDNF mRNA were measured by real-time, quantitative RT-PCR and the levels of PGP 9.5 protein by immunoblot. Embryonic lung primordia harvested on E13 were cultured for 72 h and airway peristalsis was assessed under an inverted microscope. PGP 9.5 expression was then examined in explants by whole-mount immunohistochemistry and RT-PCR. Values were compared with non-parametric tests.Results Neural networks were present in both EA-TEF and control fetuses on E15, E18 and E21, but the neural network was obviously disorganized in whole-mount immunohistochemistry of EA-TEF. The pan-neural marker PGP 9.5 protein was increased at term whereas the neural chemo-attractant GDNF protein was unchanged. PGP 9.5 mRNA significantly increased from subnormal levels on E15 to very increased ones on E18 compared with controls. GDNF mRNA levels followed the same trend. Airway peristalsis of explanted embryonal lungs was similar in both groups. The neural networks were underdeveloped in these primordia, as assessed by whole-mount PGP 9.5 immunohistochemistry and RT-PCR.Conclusions The development of respiratory tract innervation in adriamycin-induced EA-TEF was delayed and abnormally controlled in rats compared with controls. However, these deficiencies were apparently compensated for at term and had no effect on airway peristalsis. The possible significance of innervation anomalies for respiratory sequelae in EA-TEF patients deserves further investigation. [ABSTRACT FROM AUTHOR]

Congenital Tracheo-esophageal fistula is an abnormal communication between the trachea and the esophagus with or without esophageal atresia. The reported incidence of trachea-esophageal fistula is 1 in every 2000-4000 births. It is frequently associated with other congenital anomalies of the heart, lung, kidney, gastrointestinal tract and as part of VATER association (V: Vertebral; A: Anal; TE: Tracheo-Esophageal; R: Renal) or the VACTERL association (VATER + C: Cardiac; and L: Limb). Our patient was a preterm, low birth weight neonate with multiple congenital malformations like hypoplasia of the right lung and right pulmonary artery, dextroposition of the heart, patent ductus arteriosus and atrial septal defect. Interestingly, despite a normally draining right pulmonary vein, his chest X-ray showed "Scimitar sign". On extensive Medline search, we could not find any reports of anaesthetic management of such patients coming for primary corrective surgery. [ABSTRACT FROM AUTHOR]

Background/Purpose: During repair of esophageal atresia with distal tracheo-esophageal fistula, air leakage through the fistula during mechanical ventilation can cause respiratory demise. Methods: From February 2012 until November 2014, all patients with esophageal atresia and distal tracheo-esophageal fistula were subjected to preoperative tracheobronchoscopy. Relatively distal fistulas were cannulated with a Fogarty catheter and blocked by insufflation (video illustration). Relatively proximal distal fistulas were sealed by precise placement of a cuffed ventilation tube. Results: Nine of 12 patients received Fogarty balloon placement. The fistula of the remaining 3 patients were sealed by careful tube placement. No complications related to tracheobronchoscopy or Fogarty placement were noted. All procedures were uneventful. Conclusions: Preoperative tracheobronchoscopy to evaluate the usefulness of Fogarty balloon insertion or correct tube placement for distal tracheo-esophageal fistula is a safe and easy to perform procedure that can avoid complications in type C esophageal atresia repair. [ABSTRACT FROM AUTHOR]

Congenital esophageal stenosis (CES) is a rare congenital abnormality that is difficult to diagnose and often masquerades as other types of structural esophageal disease. We report three cases of CES with different presenting symptoms. We advocate for balloon dilation as the preferred first approach to therapeutic intervention. CES is an important clinical entity in the evaluation of pediatric esophageal disorders and should be suspected in young infants with dysphagia. [ABSTRACT FROM AUTHOR]

Abstract: Esophageal atresia with/without tracheo-esophageal fistula is a relatively common malformation, occurring in around 1 in 3500 births. In around half of cases, additional malformations are present, forming either a syndrome of known genetic aetiology, or a recognised association, of which the VACTERL association (Vertebral anomalies, Anal atresia, Cardiac malformations, Tracheo-Esophageal fistula, Renal and Limb malformations) is the most recognised. Recently, microdeletions of the FOX gene cluster at 16q24.1, comprising four genes, FOXF1, MTHFSD, FOXC2 and FOXL1, were reported to cause a phenotype resembling VACTERL association, with vertebral anomalies, gastro-intestinal atresias (esophageal, duodenal and anal), congenital heart malformations, and urinary tract malformations, as well as a rare lethal developmental anomaly of the lung, alveolar capillary dysplasia. This article reviews these new data alongside other genetic causes of syndromic esophageal atresia, and also highlights information from relevant mouse models, particularly those for genes in the Sonic Hedgehog pathway. [Copyright &y& Elsevier]

The development of trachea- or broncho-esophageal fistulae is a devastating thoracic malignancy complication leading to increased morbidity and mortality due to pneumonia, sepsis, and malnutrition. Due to this high morbidity and mortality, attempts to close or cover the fistula are often undertaken. Multiple modalities have been evaluated and reported to treat malignant aerodigestive fistulae (MAF), although no single approach has become the standard of care. The American College of Chest Physicians recommends palliative stenting for MAF, but this approach may not be effective depending on size, configuration, and position of the fistula. This manuscript will critically evaluate the role of single airway stenting or double airway and esophageal stenting in MAF palliation. We will recommend an approach to consider with regard to the management of these fistulae. [Copyright &y& Elsevier]

Abstract: Only eight cases involving deletions of chromosome 17 in the region q22–q24 have been reported previously. We describe an additional case, a 7-year-old boy with profound mental retardation, severe microcephaly, facial dysmorphism, symphalangism, contractures of large joints, hyperopia, strabismus, bilateral conductive hearing loss, genital abnormality, psoriasis vulgaris and tracheo-esophageal fistula. Analysis with whole-genome SNP genotyping assay detected a 5.9Mb deletion in chromosome band 17q22–q23.2 with breakpoints between 48,200,000–48,300,000bp and 54,200,000–54,300,000bp (according to NCBI 36). The aberration was confirmed by real-time quantitative PCR analysis. Haploinsufficiency of NOG gene has been implicated in the development of conductive hearing loss, skeletal anomalies including symphalangism, contractures of joints, and hyperopia in our patient and may also contribute to the development of tracheo-esophageal fistula and/or esophageal atresia. [Copyright &y& Elsevier]

Summary: Acquired tracheo-esophageal fistula (TEF) is very infrequent in the pediatric age group and is usually caused by esophageal foreign body impaction. Bronchoscopy plays an essential role in the diagnostic work-up of this rare complication. Delayed surgical closure with muscle flap interposition is the treatment of choice if spontaneous healing does not occur. The authors present the case of a 5-year-old boy with an acquired TEF caused by a very unusual esophageal foreign body, treated surgically. Management of this rare entity is discussed. [Copyright &y& Elsevier]

CHARGE association and DiGeorge syndrome (DGS) rarely occur together and only eight cases have been reported in the English literature. Two were associated with esophageal atresia (EA) and severe congenital heart anomalies. We report a third case of EA with tracheoesophageal fistula (EA-TEF) associated with coarctation of the aorta (CoA), CHARGE association, and DGS. The challenge for management in this complicated case is the background DGS which influences surgical outcome because of Ca++ imbalance and immune deficiency that can be life-threatening and require bone marrow transplantation. [ABSTRACT FROM AUTHOR]

Background Anaplastic kinase-1 positive lymphoma (ALK-1) is a very rare but distinct pathologic entity. ALK-1 lymphoma tends to affect the bone marrow, skin, lungs, soft tissue, but very rarely the gastrointestinal tract. Methods We report a case of ALK-1 positive lymphoma presenting as a tracheoesophageal fistula. The clinical presentation, histopathology, and management outcome are all discussed. Conclusion ALK-1 positive lymphoma of the upper aerodigestive involvement is extremely rare. An unusual presentation such as pharyngeal pouch with vocal cord palsy should suggest pathology. Histopathologic analysis can be difficult and immunohistochemical studies will aid are of paramount importance in the diagnosis and help in subsequent management and also act as prognostic indicators. © 2008 Wiley Periodicals, Inc. Head Neck, 2008 [ABSTRACT FROM AUTHOR]

Advancements in minimally invasive surgical techniques and instruments for neonates have allowed even the most complex neonatal procedures to be approached endoscopically. In 1998 the first successful thoracoscopic repair of an esophageal atresia was performed in a 2-month-old infant. One year later the first totally thoracoscopic repair of an atresia with distal fistula was realized. Over the ensuing 5 years these techniques have become more refined and widespread so that this technique is now being performed all over the world with excellent results, while avoiding the significant short- and long-term morbidity associated with thoracotomy in neonates. [Copyright &y& Elsevier]

Introduction: Initial management of wide-gap esophageal atresia and tracheo-esophageal fistula, especially in developing countries, often involves ligation of the fistula, proximal esophagostomy and a gastrostomy. The conventional gastrostomy requires an abdominal incision and has several complications. The authors present an alternative technique of 'gastrostomy' that does not require an abdominal incision.Method: Through a standard right thoracotomy, the fistula is divided and tracheal end closed. If primary anastomosis is not possible due to wide gap, the lower esophageal pouch is mobilised and brought out as a stoma on the left posterior chest wall, lateral to the paraspinal muscles in the 7th or 8th intercostal space. A feeding tube is passed through the stoma into the stomach. The thorax is closed with a drain. Proximal esophagostomy is performed in the neck. The thoracic stoma is intermittently intubated for feeding until the child is ready for gastric transposition.Results: The technique was successfully used in 5 patients. Feeding through the stoma could be established in 4. One patient had stomal retraction and died of resultant sepsis. One patient has subsequently undergone gastric transposition and one more is waiting for it. Two patients died of unrelated causes before esophageal replacement could be carried out.Discussion: This is an alternative technique for feeding 'gastrostomy'. We have named the procedure as "Thoracic Gastrostomy" because the stoma is located on the chest but functions as a gastrostomy. The advantages include avoidance of a laparotomy and its complications, easy feeding by intermittent intubation, and availability of a virgin stomach for future gastric transposition. [ABSTRACT FROM AUTHOR]