Feeding and Swallowing Characteristics of Children With Esophageal Atresia and Tracheoesophageal Fistula.

OBJECTIVES: This study aimed to characterize feeding/swallowing difficulties in children with esophageal atresia and/or tracheoesophageal fistula (EA/TEF) and evaluate associations among feeding difficulties, pharyngeal dysphagia (PD), and other aerodigestive evaluation findings. METHODS: This was a retrospective cohort study of feeding/swallowing characteristics of 44 patients with EA/TEF treated in the aerodigestive program of a single academic medical institution from 2010 to 2015. Demographics, comorbidities, presence and characteristics of feeding/swallowing difficulties, and results of relevant diagnostic tests [videofluoroscopic swallow studies (VFSS), clinical feeding evaluations (CFEs), chest computerized tomography (CT) scans, pulmonary bronchoscopies, and upper GI (UGI)/esophagrams] were reviewed. RESULTS: Fifty percent of the cohort had PD and 88.6% had feeding difficulties. Across 118 encounters (87 VFSS and 31 CFEs), feeding difficulties suggestive of esophageal dysphagia were most frequently seen in children over 48 months and feeding difficulties suggestive of developmental feeding problems were most frequently seen in children from 24 to 48 months. Abnormal findings were present in 59.8% of VFSS, with aspiration (34.5%) and pharyngeal residue (26.4%) the most frequently observed signs of dysphagia. Abnormal UGI/esophagram findings were not associated with significantly increased risk of feeding difficulties during visits within 3 months (risk ratio, RR = 1.33). Presence of dysphagia was associated with increased risk for some abnormal CT findings (RR= 3.0 for airspace and 3.0 for bronchiectasis). CONCLUSIONS: Feeding/swallowing difficulties are common in EA/TEF, and types of feeding difficulties vary by patient age. The presence of abnormal findings on UGI/esophagram did not increase the risk of feeding complaints; however, the presence of dysphagia increased the risk of abnormal chest CT.

Esophageal substitution or esophageal elongation procedures in patients with complicated esophageal atresia? Results of a comparative study.

BACKGROUND: In newborns with complex esophageal atresia, there are situations in which a primary anastomosis cannot be safely performed. The alternative is performing a late anastomosis after the esophageal ends have gone through a period of spontaneous growth or after elongations of the distant ends of the esophagus and create an anastomosis under tension which causes risks of morbidity. An alternative to the elongation procedures is to perform a cervical esophagostomy with a gastrostomy for nutritional support and later on an esophageal replacement. The purposes of this retrospective chart review study are to report on our experience with esophageal substitution procedures in such cases, address the quality of life of a group of patients, and compare our results with those of patients who underwent esophageal elongation procedures as reported in the literature. METHODS: Patients with esophageal atresia underwent esophageal replacement procedures and quality of life was assessed in a group of esophagocoloplasty patients. RESULTS: From February 1978 to July 2019, 276 children (232 colonic interpositions and 44 total gastric transpositions) were studied; the most frequent complication was cervical anastomosis leakage [70 (30.2%) esophagocoloplasty patients and 7 (15.9%) gastric transposition patients], which sealed spontaneously in all but 4 patients. The quality of life was considered excellent or good in approximately 90% of the studied 70 out of the 276 patients; the comparison with the esophageal elongation procedures showed that esophageal substitution procedures promoted excellent long-term results with normal deglutition function (98.2% of patients, versus 33.3%, 36.5%, and 62.5%, respectively from the elongation series, P <0.0001 for all comparisons). CONCLUSION: Esophagocoloplasty or total gastric transposition is a good alternative to treat patients with complex esophageal atresia. TYPE OF STUDY: Retrospective study. LEVEL OF EVIDENCE: Level III.

INCIDENCE OF MALNUTRITION, ESOPHAGEAL STENOSIS AND RESPIRATORY COMPLICATIONS AMONG CHILDREN WITH REPAIRED ESOPHAGEAL ATRESIA.

BACKGROUND: Esophageal atresia is congenital anomaly with high mortality. Surgical complications and changes in nutritional status are common problems after surgical correction. Aim: To evaluate nutritional status, esophageal stenosis, and respiratory complications among children who had repaired esophageal atresia. METHODS: Children aged >2 months old with repaired esophageal atresia were included in the current study. Gender, age, weight, and height were recorded for each case. Height for age and weight for age were calculated for each case. RESULTS: According to weight for length percentile, 41.02% of the cases were underweight. Esophageal stenosis was seen in 54.76% of the obtained esophagograms. CONCLUSION: Underweight was present in 41.02 of the patients according to weight-for-height percentile.

Incidence of malnutrition, esophageal stenosis and respiratory complications among children with repaired esophageal atresia.

BACKGROUND: Esophageal atresia is congenital anomaly with high mortality. Surgical complications and changes in nutritional status are common problems after surgical correction. AIM: o evaluate nutritional status, esophageal stenosis, and respiratory complications among children who had repaired esophageal atresia. METHODS: Children aged >2 months old with repaired esophageal atresia were included in the current study. Gender, age, weight, and height were recorded for each case. Height for age and weight for age were calculated for each case. RESULTS: According to weight for length percentile, 41.02% of the cases were underweight. Esophageal stenosis was seen in 54.76% of the obtained esophagograms. CONCLUSION: Underweight was present in 41.02 of the patients according to weight-for-height percentile.

Comorbilidades y evolución de la función pulmonar de pacientes con atresia esofágica congénita / Comorbidities and course of lung function in patients with congenital esophageal atresia

Objetivo. Describir las características epidemiológicas, el seguimiento hospitalario y la evolución de los pacientes intervenidos por atresia esofágica y su repercusión en la función pulmonar. Población y métodos. Estudio retrospectivo, longitudinal y analítico. Se revisaron las historias clínicas de pacientes con atresia esofágica nacidos entre 1996 y 2017. Se registraron datos perinatales, tipo de atresia, malformaciones asociadas, complicaciones respiratorias y digestivas, y los datos espirométricos durante tres años. Resultados. Se incluyeron 97 pacientes. El tipo de atresia más frecuente fue el III y el síndrome más frecuente, la trisomía 21. El 13,4 % fallecieron en el período neonatal. El 23,8 % de los pacientes estuvo en seguimiento por Neumología y presentó como complicaciones respiratorias exacerbaciones (el 46,4 %), sibilancias o asma (el 36 %), neumonías (el 26,8 %). El reflujo gastroesofágico fue factor de riesgo de sibilancias (OR 5,31; p = 0,002), exacerbaciones (OR 4,00; p = 0,009) y neumonías (OR 3,24; p = 0,02). En la primera espirometría (n = 20), un 65 % presentaba patrón normal; un 30 %, restrictivo, y un 5 %, mixto. En la segunda espirometría (n = 19), un 42,1 % presentaba patrón normal; un 31,6 %, restrictivo; un 15,8 %, obstructivo, y un 10,5 %, mixto. En la tercera espirometría (n = 14), el 50 % presentaba un patrón espirométrico normal; el 21,4 %, restrictivo; el 14,3 %, obstructivo, y un 14,3 %, mixto. Conclusiones. En nuestra muestra de pacientes, una importante proporción presentó comorbilidades respiratorias y digestivas. La función pulmonar empeoró progresivamente.

Objective. To describe the epidemiological characteristics, hospital follow-up, and course of patients who underwent surgery for esophageal atresia and its consequences on lung function. Population and methods. Retrospective, longitudinal, and analytical study. The medical records of patients with esophageal atresia born between 1996 and 2017 were reviewed. Perinatal data, type of atresia, associated malformations, respiratory and gastrointestinal complications, and spirometry data were recorded over 3 years. Results. A total of 97 patients were included. The most common type of atresia was III, and the most frequent syndrome, trisomy 21; 13.4 % of patients died in the neonatal period; 23.8 % were followed up by the Department of Pulmonology, and their respiratory complications included exacerbations (46.4 %), wheezing or asthma (36 %), and pneumonia (26.8 %). Gastroesophageal reflux was a risk factor for wheezing (OR: 5.31; p = 0.002), exacerbations (OR: 4.00; p = 0.009), and pneumonia (OR: 3.24; p = 0.02). In the first spirometry (n = 20), the pattern was normal in 65 %; restrictive in 30 %; and mixed in 5 %. In the second spirometry (n = 19), the pattern was normal in 42.1 %; restrictive in 31.6 %; obstructive in 15.8 %, and mixed in 10.5 %. In the third spirometry (n = 14), the pattern was normal in 50 %; restrictive in 21.4 %; obstructive in 14.3 %, and mixed in 14.3 %.Conclusions. In our sample of patients, a large proportion had respiratory and gastrointestinal comorbidities. Lung function worsened progressively.

Comorbidities and course of lung function in patients with congenital esophageal atresia. / Comorbilidades y evolución de la función pulmonar de pacientes con atresia esofágica congénita.

OBJECTIVE: To describe the epidemiological characteristics, hospital follow-up, and course of patients who underwent surgery for esophageal atresia and its consequences on lung function. POPULATION AND METHODS: Retrospective, longitudinal, and analytical study. The medical records of patients with esophageal atresia born between 1996 and 2017 were reviewed. Perinatal data, type of atresia, associated malformations, respiratory and gastrointestinal complications, and spirometry data were recorded over 3 years. RESULTS: A total of 97 patients were included. The most common type of atresia was III, and the most frequent syndrome, trisomy 21; 13.4 % of patients died in the neonatal period; 23.8 % were followed up by the Department of Pulmonology, and their respiratory complications included exacerbations (46.4 %), wheezing or asthma (36 %), and pneumonia (26.8 %). Gastroesophageal reflux was a risk factor for wheezing (OR: 5.31; p = 0.002), exacerbations (OR: 4.00; p=0.009), and pneumonia (OR: 3.24; p = 0.02). In the first spirometry (n=20), the pattern was normal in 65 %; restrictive in 30 %; and mixed in 5 %. In the second spirometry (n = 19), the pattern was normal in 42.1 %; restrictive in 31.6 %; obstructive in 15.8 %, and mixed in 10.5 %. In the third spirometry (n = 14), the pattern was normal in 50 %; restrictive in 21.4 %; obstructive in 14.3 %, and mixed in 14.3 %. CONCLUSIONS: In our sample of patients, a large proportion had respiratory and gastrointestinal comorbidities. Lung function worsened progressively.

Objetivo: Describir las características epidemiológicas, el seguimiento hospitalario y la evolución de los pacientes intervenidos por atresia esofágica y su repercusión en la función pulmonar. Población y métodos: Estudio retrospectivo, longitudinal y analítico. Se revisaron las historias clínicas de pacientes con atresia esofágica nacidos entre 1996 y 2017. Se registraron datos perinatales, tipo de atresia, malformaciones asociadas, complicaciones respiratorias y digestivas, y los datos espirométricos durante tres años. Resultados: Se incluyeron 97 pacientes. El tipo de atresia más frecuente fue el III y el síndrome más frecuente, la trisomía 21. El 13,4 % fallecieron en el período neonatal. El 23,8 % de los pacientes estuvo en seguimiento por Neumología y presentó como complicaciones respiratorias exacerbaciones (el 46,4 %), sibilancias o asma (el 36 %), neumonías (el 26,8 %). El reflujo gastroesofágico fue factor de riesgo de sibilancias (OR 5,31; p = 0,002), exacerbaciones (OR 4,00; p = 0,009) y neumonías (OR 3,24; p = 0,02). En la primera espirometría (n = 20), un 65 % presentaba patrón normal; un 30 %, restrictivo, y un 5 %, mixto. En la segunda espirometría (n = 19), un 42,1 % presentaba patrón normal; un 31,6 %, restrictivo; un 15,8 %, obstructivo, y un 10,5 %, mixto. En la tercera espirometría (n = 14), el 50 % presentaba un patrón espirométrico normal; el 21,4 %, restrictivo; el 14,3 %, obstructivo, y un 14,3 %, mixto. Conclusiones: En nuestra muestra de pacientes, una importante proporción presentó comorbilidades respiratorias y digestivas. La función pulmonar empeoró progresivamente.

Incidence of malnutrition, esophageal stenosis and respiratory complications among children with repaired esophageal atresia / Incidência de desnutrição, estenose esofágica e complicações respiratórias entre crianças operadas por atresia esofágica

ABSTRACT Background: Esophageal atresia is congenital anomaly with high mortality. Surgical complications and changes in nutritional status are common problems after surgical correction. Aim: To evaluate nutritional status, esophageal stenosis, and respiratory complications among children who had repaired esophageal atresia. Methods: Children aged >2 months old with repaired esophageal atresia were included in the current study. Gender, age, weight, and height were recorded for each case. Height for age and weight for age were calculated for each case. Results: According to weight for length percentile, 41.02% of the cases were underweight. Esophageal stenosis was seen in 54.76% of the obtained esophagograms. Conclusion: Underweight was present in 41.02 of the patients according to weight-for-height percentile.

RESUMO Racional: Atresia de esôfago é anomalia congênita com mortalidade alta. Complicações cirúrgicas e alterações no estado nutricional são problemas comuns após correção cirúrgica. Objetivo: Avaliar o estado nutricional, a estenose esofágica e as complicações respiratórias em crianças que tiveram a reparação de atresia de esôfago. Métodos: Crianças com idade> 2 meses de idade com atresia esofágica reparada foram incluídas no estudo atual. Sexo, idade, peso e altura foram registrados para cada caso. A altura por idade e o peso por idade foram calculados para cada caso. Resultados: De acordo com o peso para o percentil de comprimento, 41,02% dos casos estavam abaixo do peso. Estenose esofágica foi observada em 54,76% do esofagograma obtido. Conclusão: O baixo peso esteve presente em 41,02 dos pacientes, de acordo com o percentil peso/estatura.

Incidence of malnutrition, esophageal stenosis and respiratory complications among children with repaired esophageal atresia / Incidência de desnutrição, estenose esofágica e complicações respiratórias entre crianças operadas por atresia esofágica

ABSTRACT Background: Esophageal atresia is congenital anomaly with high mortality. Surgical complications and changes in nutritional status are common problems after surgical correction. Aim: T o evaluate nutritional status, esophageal stenosis, and respiratory complications among children who had repaired esophageal atresia. Methods: Children aged >2 months old with repaired esophageal atresia were included in the current study. Gender, age, weight, and height were recorded for each case. Height for age and weight for age were calculated for each case. Results: According to weight for length percentile, 41.02% of the cases were underweight. Esophageal stenosis was seen in 54.76% of the obtained esophagograms. Conclusion: Underweight was present in 41.02 of the patients according to weight-for-height percentile.

RESUMO Racional: Atresia de esôfago é anomalia congênita com mortalidade alta. Complicações cirúrgicas e alterações no estado nutricional são problemas comuns após correção cirúrgica. Objetivo: Avaliar o estado nutricional, a estenose esofágica e as complicações respiratórias em crianças que tiveram a reparação de atresia de esôfago. Métodos: Crianças com idade> 2 meses de idade com atresia esofágica reparada foram incluídas no estudo atual. Sexo, idade, peso e altura foram registrados para cada caso. A altura por idade e o peso por idade foram calculados para cada caso. Resultados: De acordo com o peso para o percentil de comprimento, 41,02% dos casos estavam abaixo do peso. Estenose esofágica foi observada em 54,76% do esofagograma obtido. Conclusão: O baixo peso esteve presente em 41,02 dos pacientes, de acordo com o percentil peso/estatura.

Gastrointestinal disorders in Down syndrome.

Down syndrome is the most common human chromosomal disorder. Among clinical findings, one constant concern is the high prevalence of gastrointestinal system alterations. The aim of this study was to determine the prevalence of gastrointestinal disorders at a Down syndrome outpatient clinic during a 10-year follow-up period. Data from medical files were retrospectively reviewed from 1,207 patients. Gastrointestinal changes occurred in 612 (50.7%). The most prevalent disorder was chronic intestinal constipation. Intestinal parasite occurred in 22% (mainly giardiasis), gastroesophageal reflux disease in 14%, digestive tract malformations occurred in 5%: 13 cases of duodenal atresia, 8 of imperforate anus, 4 annular pancreases, 2 congenital megacolon, 2 esophageal atresias, 2 esophageal compression by anomalous subclavian and 1 case of duodenal membrane. We had 38/1,207 (3.1%) patients with difficulty in sucking and only three with dysphagia that resolved before the second year of life. Peptic ulcer disease, celiac disease, and biliary lithiasis were less prevalent with 3% each. Awareness of the high prevalence of gastrointestinal disorders promotes outstanding clinical follow-up as well as adequate development and greater quality of life for patients with Down syndrome and their families.

Impact of Esophageal Atresia on the Success of Fundoplication for Gastroesophageal Reflux.

OBJECTIVES: Fundoplication is commonly performed in patients with a history of esophageal atresia (EA), however, the success of this surgery is reduced, as reflected by an increased rate of redo fundoplication. We aimed to determine whether EA impacts the prevalence of fundoplication, its timing, and performance of a redo operation. STUDY DESIGN: A single-center, retrospective review of all patients undergoing fundoplication over a 20-year period (1994-2013) was performed. Redo fundoplication was used as a surrogate for surgical failure. RESULTS: A total of 767 patients (patients with EA 85, those who did not have EA 682) underwent fundoplication during the study period. Median age (months) at primary fundoplication was lower in patients with EA (7.2 vs those who did not have EA 23.3; P < .001). Redo fundoplication rates between groups were not significantly different (EA 11/85 vs 53/682; P = .14). Median time (months) between primary and redo fundoplication was greater in patients with EA (36.2 vs 11.7; P = .03). CONCLUSIONS: Contrary to popular belief, the incidence of redo fundoplication was not significantly increased in patients with a history of EA. However, patients with EA underwent fundoplication at younger ages, which may be related to early life-threatening events in these patients. These results inform perioperative counseling, and highlight the importance of sustained surgical follow-up in patients with EA.

Eosinophilic esophagitis and esophageal atresia: coincidence or causality? / Esofagitis eosinofílica y atresia esofágica: ¿casualidad o causalidad?

Eosinophilic esophagitis is an immune-mediated chronic disease of the esophagus characterized by symptoms related to esophageal dysfunction and tissue eosinophilia. In the endoscopy, the esophageal mucosa may appear normal or show exudates, rings, edema, furrows, and strictures. Its management is based on elimination diet, topical corticosteroids and/or esophageal dilation. Atresia is the most common congenital alteration of the esophagus; it requires surgical repair and poses potential complications, such as gastroesophageal reflux, strictures, and esophageal dysmotility. Up to 2015, 48 cases of eosinophilic esophagitis and esophageal atresia were reported, with dysmotility, reflux, and long-term acid suppression involvement. Prevalent clinical signs include dysphagia, difficulty eating, and reflux symptoms, so an esophagogastroduodenoscopy with biopsy is recommended to rule out associated eosinophilic esophagitis in patients with esophageal atresia and persistent symptoms before performing an esophageal dilation and/or anti-reflux surgery. If eosinophilic esophagitis is confirmed, it should be managed with the corresponding drugs, and the subsequent therapeutic approach will depend on its clinical course.

La esofagitis eosinofílica es una enfermedad crónica del esófago, inmunomediada, caracterizada por síntomas de disfunción esofágica y eosinofilia tisular. Endoscópicamente, la mucosa esofágica puede ser normal o tener exudados, anillos, edema, surcos y estenosis. El tratamiento se basa en dieta de exclusión, corticoterapia tópica y/o dilatación esofágica. La atresia es la alteración congénita más frecuente del esófago, requiere corrección quirúrgica con posibles complicaciones, como reflujo gastroesofágico, estenosis y dismotilidad esofágica. Hasta el año 2015, fueron comunicados 48 casos de esofagitis eosinofílica en atresia esofágica, en los que tuvo participación la dismotilidad, el reflujo y la supresión ácida prolongada. Clínicamente, predominan la disfagia, las dificultades en la alimentación y los síntomas de reflujo, por tanto, se sugiere la endoscopía digestiva alta con biopsias para descartar esofagitis eosinofílica asociada en pacientes con atresia esofágica y síntomas persistentes antes de realizar dilatación esofágica y/o cirugía antirreflujo. Si se confirma esofagitis eosinofílica, debe tratarse con medicación apropiada y subsiguientes conductas terapéuticas dependerán de su evolución.

SOX2 anophthalmia syndrome and dental anomalies.

SOX2 anophthalmia syndrome is an uncommon autosomal dominant syndrome caused by mutations in the SOX2 gene and clinically characterized by severe eye malformations (anophthalmia/microphthalmia) and extraocular anomalies mainly involving brain, esophagus, and genitalia. In this work, a patient with the SOX2 anophthalmia syndrome and exhibiting a novel dental anomaly is described. SOX2 genotyping in this patient revealed an apparently de novo c.70del20 deletion, a commonly reported SOX2 mutation. A review of the phenotypic variation observed in patients carrying the recurrent SOX2 c.70del20 mutation is presented. Although dental anomalies are uncommonly reported in the SOX2 anophthalmia syndrome, we suggest that a dental examination should be performed in patients with SOX2 mutations.

Vascular Anomalies Associated with Esophageal Atresia and Tracheoesophageal Fistula.

OBJECTIVE: To report the incidence of congenital vascular anomalies in a cohort of patients with esophageal atresia (EA) and tracheoesophageal fistula (TEF) while describing the clinical presentation, diagnosis, and consequences, and to evaluate the diagnostic value of esophagram in diagnosing an aberrant right subclavian artery (ARSA). METHODS: All patients born with EA/TEF between 2005 and 2013 were studied. Preoperative echocardiography reports, surgical descriptions of primary esophageal repair, and esophagrams were reviewed retrospectively. RESULTS: Of the 76 children born with EA/TEF included in this study, 14 (18%) had a vascular malformation. The incidence of a right aortic arch (RAA) was 6% (5 of 76), and that of an aberrant right subclavian artery (ARSA) was 12% (9 of 76). RAA was diagnosed in the neonatal period by echocardiography (4 of 5) or surgery (1 of 5), and ARSA was diagnosed by echocardiography (7 of 9) or later on the esophagram (2 of 9). Respiratory and/or digestive symptoms occurred in 9 of the 14 patients with vascular malformation. Both long-gap EA and severe cardiac malformations necessitating surgery were significantly associated with vascular anomalies (P<.05). The sensitivity of the esophagram for diagnosing ARSA was 66%, the specificity was 98%, the negative predictive value was 95%, and the positive predictive value was 85%. CONCLUSION: ARSA and RAA have an incidence of 12% and 6% respectively, in patients with EA/TEF. A computed tomography angioscan is recommended to rule out such malformations when stenting of the esophagus is indicated, before esophageal replacement surgery, and when prolonged (>2 weeks) use of a nasogastric tube is considered.

The association between laryngeal cleft and tracheoesophageal fistula: myth or reality?

OBJECTIVES/HYPOTHESIS: Laryngeal cleft (LC) associated with tracheoesophageal fistula (TEF) with or without esophageal atresia (EA) has rarely been described. The purpose of this study is to review our experience, clinical features, management, delay in diagnosis, and complications in children with these anomalies. STUDY DESIGN: Retrospective chart review at pediatric tertiary referral center. METHODS: Patients diagnosed with LC alone or LC and TEF over a 10-year period were included. Data including demographics, type of TEF and LC, comorbidities, symptoms, management, complications and swallowing outcomes were analyzed. RESULTS: There were 161 pediatric patients diagnosed with LC alone and 22 with LC and TEF. In patients with LC and TEF, aspiration was the most common presenting symptom (n = 11, 50%). Seventeen patients (77%, mean age 4 years 7 months) underwent endoscopic repair and five patients (23%) with type I clefts did not require surgery. Two patients required revision surgery. For patients with LC alone, the mean age at repair was 3.70 years (4 months-19.9 years) compared to 4.69 years (8 months-17.83 years) for patients with LC and TEF (P = 0.0187). The postoperative swallowing studies from 15 patients showed no aspiration. Mean follow-up was 4 years and 6 months. CONCLUSION: The diagnosis and management of LC in patients with TEF is often delayed. If a child presents with persistent aspiration after TEF repair, a complete airway endoscopy should be performed to evaluate for vocal fold mobility and cleft. Endoscopic repair is the recommended approach for those patients requiring surgical intervention. LEVEL OF EVIDENCE: 4.

Apert syndrome with omphalocele: a case report.

Apert syndrome is a genetic disorder known as acrocephalopolysyndactyly type 1 caused by mutations in the fibroblast growth factor receptor 2 and characterized by coronal craniosynostosis, symmetric bone and skin syndactyly of hands and feet, and craniofacial dysmorphic features. The estimated prevalence of this syndrome is 10 to 15.5 cases per 1,000,000 live births. Apert syndrome has considerable clinical variability. We present a case of Apert syndrome and associated features reported to the National Registry of Congenital Anomalies of Argentina (RENAC). The reported case had omphalocele, esophageal atresia, and mega cisterna magna. The last two signs were reported several times as part of the clinical presentation of Apert syndrome. To our knowledge, this is the second reported case diagnosed with Apert syndrome associated with omphalocele.

Anomalías congénitas asociadas a la atresia esofágica / Esophageal atressia-associated congenital anomalies

Introducción: la atresia esofágica se presenta en 1 de cada 3 000 a 4 500 neonatos vivos. Existe un ligero predominio en los varones, aunque esto no es un hallazgo universal y tal vez no sea cierto para todas las variedades. Con el aumento en la supervivencia de estos niños operados de atresia esofágica, las anomalías asociadas han adquirido mayor significación; más de la mitad de estos tienen una o más anomalías acompañantes. Objetivo: caracterizar las anomalías asociadas a esta entidad. Métodos: se realizó un estudio observacional descriptivo transversal de todos los casos diagnosticados de atresia esofágica con o sin fístula traqueoesofágica, en el periodo comprendido desde enero de 2000 hasta diciembre de 2011, en el Hospital Pediátrico Docente Provincial José Luis Miranda de Santa Clara, Cuba. Resultados: predominaron las anomalías congénitas cardiovasculares, seguido de las malformaciones digestivas y respiratorias. La anomalía asociada más frecuente, junto a la comunicación interatrial, fue la malformación anorrectal. Hubo 1 caso de atresia duodenal, así como otro de agenesia diafragmática. No hubo asociaciones, y la única trisomía presentada fue una 21. Los pacientes con anomalías congénitas no cardiovasculares tienen 2,1 veces más probabilidades de morir, que los que no se asocian a este tipo de anomalías. La mortalidad global en esta serie fue del 46,9 por ciento. Conclusiones: la presencia de una anomalía congénita eleva la mortalidad en estos pacientes, sobre todo, las no cardiovasculares mayores y las cardiovasculares críticas(AU)

Introduction: esophageal atresia occurs in one out of 3 000 or 4 500 livebirths. Males are slightly predominant, but this is not a universal finding and maybe it is not valid for all varieties. With increasing survival rates of children operated on from esophageal atresia, the associated anomalies have become more significant since more than half of these children suffer one or more accompanying anomalies. Objective: to characterize the esophageal atresia-associated anomalies. Methods: an observational, cross-sectional and descriptive study of all the cases diagnosed with esophageal atresia, with or without tracheal esophageal fistula, from January 2000 to December 2011 was conducted in José Luis Miranda provincial pediatric teaching hospital in Santa Clara, Villa Clara province, Cuba. Resultados: congenital cardiovascular anomalies were prevailing, followed by digestive and respiratory malformations. The most frequent one, together with interatrial communication, was anorectal malformation. There was a case of duodenal atresia as well as another case of diaphragmatic agenesis. There was no association between them. The patients with non-cardiovascular congenital anomalies are 2.1 times more likely to die than those unrelated to this type of anomaly. The global mortality rate for this series was 46.9 percent. Conclusions: the existence of congenital anomaly raises the mortality likelihood for these patients, mainly in cases of major non-cardiovascular and critical cardiovascular anomalies(AU)

Anomalías congénitas asociadas a la atresia esofágica / Esophageal atressia-associated congenital anomalies

Introducción: la atresia esofágica se presenta en 1 de cada 3 000 a 4 500 neonatos vivos. Existe un ligero predominio en los varones, aunque esto no es un hallazgo universal y tal vez no sea cierto para todas las variedades. Con el aumento en la supervivencia de estos niños operados de atresia esofágica, las anomalías asociadas han adquirido mayor significación; más de la mitad de estos tienen una o más anomalías acompañantes. Objetivo: caracterizar las anomalías asociadas a esta entidad. Métodos: se realizó un estudio observacional descriptivo transversal de todos los casos diagnosticados de atresia esofágica con o sin fístula traqueoesofágica, en el periodo comprendido desde enero de 2000 hasta diciembre de 2011, en el Hospital Pediátrico Docente Provincial José Luis Miranda de Santa Clara, Cuba. Resultados: predominaron las anomalías congénitas cardiovasculares, seguido de las malformaciones digestivas y respiratorias. La anomalía asociada más frecuente, junto a la comunicación interatrial, fue la malformación anorrectal. Hubo 1 caso de atresia duodenal, así como otro de agenesia diafragmática. No hubo asociaciones, y la única trisomía presentada fue una 21. Los pacientes con anomalías congénitas no cardiovasculares tienen 2,1 veces más probabilidades de morir, que los que no se asocian a este tipo de anomalías. La mortalidad global en esta serie fue del 46,9 por ciento. Conclusiones: la presencia de una anomalía congénita eleva la mortalidad en estos pacientes, sobre todo, las no cardiovasculares mayores y las cardiovasculares críticas

Introduction: esophageal atresia occurs in one out of 3 000 or 4 500 livebirths. Males are slightly predominant, but this is not a universal finding and maybe it is not valid for all varieties. With increasing survival rates of children operated on from esophageal atresia, the associated anomalies have become more significant since more than half of these children suffer one or more accompanying anomalies. Objective: to characterize the esophageal atresia-associated anomalies. Methods: an observational, cross-sectional and descriptive study of all the cases diagnosed with esophageal atresia, with or without tracheal esophageal fistula, from January 2000 to December 2011 was conducted in José Luis Miranda provincial pediatric teaching hospital in Santa Clara, Villa Clara province, Cuba. Resultados: congenital cardiovascular anomalies were prevailing, followed by digestive and respiratory malformations. The most frequent one, together with interatrial communication, was anorectal malformation. There was a case of duodenal atresia as well as another case of diaphragmatic agenesis. There was no association between them. The patients with non-cardiovascular congenital anomalies are 2.1 times more likely to die than those unrelated to this type of anomaly. The global mortality rate for this series was 46.9 percent. Conclusions: the existence of congenital anomaly raises the mortality likelihood for these patients, mainly in cases of major non-cardiovascular and critical cardiovascular anomalies

Laparoscopic transhiatal esophagectomy and gastric pull-up in long-gap esophageal atresia: description of the technique in our first 10 cases.

The definition accepted for the largely controversial and multiple criteria condition known as long-gap esophageal atresia (LGEA) is "inability to achieve primary end-to-end anastomosis," particularly in the presence of a tracheo-esophageal fistula. In this article we report our technique of laparoscopic transhiatal esophagectomy and gastric pull-up (TEGPUL) in LGEA, based on the open approach of Spitz. Differences between TEGPUL and the original technique are the absence of a pyloromyotomy, the peel-away technique, the gastric pull-up through the distal esophagus, and its extracorporeal section. We performed the technique in 10 patients: 6 girls and 4 boys. Six had esophageal atresia type III (60%), three had esophageal atresia type I (30%) and one had esophageal atresia type II (10%). Mean time in surgery was 4.43 hours (range, 3.3-7 hours). Average stay in the pediatric intensive care unit was 5.9 days (range, 3-25 days). Average time under mechanical ventilation was 4.6 days (range, 2-8 days). Average total hospital stay was 19.4 days (range, 11-40 days). Oral feeding began at 15.6 days (range, 5-30 days). We believe these steps and the early realization of the technique will reduce the morbidity and mortality among these patients and decrease the number of contraindications to gastric pull-up. Nevertheless, a valid conclusion will require more studies with a larger number of patients and longer follow-up.