Figure 3 - uploaded by Gerardo Cazzato
Content may be subject to copyright.
Source publication
Congenital anomalies of the tubular gastrointestinal tract are an important cause of morbidity not only in infants, but also in children and adults.
The gastrointestinal (GI) tract, composed of all three primitive germ layers, develops early during embryogenesis. Two major steps in its development are the formation of the gut tube (giving rise to...
Context in source publication
Context 1
... 33 . Duodenal atresia is accompanied by polyhydramnios in up to 80% of cases, often leading to premature labor, and, unlike the more distal intestinal atresia, appears to result from defective embryogenesis 30 . Prenatal ultrasound shows a characteristic "double-bubble" sign, which is also visible at abdominal X-ray, performed soon after birth (Fig. 3) 34 . Newborns present non-bilious vomit, if atresia is proximal to the ampulla of Vater, or bilious, if the atresia is distal. Dehydration, weight loss and electrolyte imbalance may follow unless fluids and electrolyte losses are adequately replaced. Treatment is surgical and consists of a side-to-side, or, preferably, proximal ...
Citations
... 4 Table 1). [6][7][8][9][10][11][12][13][14][15][16][17][18] Although precise incidence figures are challenging to ascertain, tracheobronchial injuries contribute to 2.5%-3.2% of trauma-related fatalities and affect 0.6%-2.1% of trauma cases admitted complicated with neck or pulmonary injuries. [6][7][8][9][10][11] Malignant tumors invading the trachea often necessitate lesion resection and one-stage structure reconstruction, encompassing primary Tracheal or bronchus malignancies such as adenoid cystic carcinoma and squamous cell carcinoma. ...
... Trauma-induced tracheal lesions 2.5%-3.2% of fatalities in trauma cases 0.5%-2.0% of individuals with chest or neck injuries due to trauma <1% of planned orotracheal intubations 0.05%-0.37% of instances involving endotracheal intubations [6][7][8][9][10][11] Tracheal malignancies <1% of the population <1% of individuals each year [12,13] Aplasia of trachea <1% in neonates [14] TBM 23% of COPD patients 44% of individuals with chronic bronchitis 1% of the total patients undergoing bronchoscopy [1] Intubation-related tracheal stenosis 6%-21% following intubation [15] Congenital esophageal obstruction <1% in neonates [16,17] Tracheoesophageal fistulas <1% in neonates [18] pediatric population, congenital anomalies, such as birth abnormalities, esophageal atresia, and tracheoesophageal fistulas, present distinct challenges, with tracheal agenesis occurring as a less common anomaly, impacting less than 1/50,000 infants. 14, [16][17][18] While tracheal stenosis in adults is typically addressed through resection and anastomosis, this approach is less feasible in infants and children, especially when the lesion involves exceeding 50% of the total trachea length. 2 Attempts to provide support using various stents, comprising biodegradable alternatives and Palmaz stents, have achieved limited success. ...
... Trauma-induced tracheal lesions 2.5%-3.2% of fatalities in trauma cases 0.5%-2.0% of individuals with chest or neck injuries due to trauma <1% of planned orotracheal intubations 0.05%-0.37% of instances involving endotracheal intubations [6][7][8][9][10][11] Tracheal malignancies <1% of the population <1% of individuals each year [12,13] Aplasia of trachea <1% in neonates [14] TBM 23% of COPD patients 44% of individuals with chronic bronchitis 1% of the total patients undergoing bronchoscopy [1] Intubation-related tracheal stenosis 6%-21% following intubation [15] Congenital esophageal obstruction <1% in neonates [16,17] Tracheoesophageal fistulas <1% in neonates [18] pediatric population, congenital anomalies, such as birth abnormalities, esophageal atresia, and tracheoesophageal fistulas, present distinct challenges, with tracheal agenesis occurring as a less common anomaly, impacting less than 1/50,000 infants. 14, [16][17][18] While tracheal stenosis in adults is typically addressed through resection and anastomosis, this approach is less feasible in infants and children, especially when the lesion involves exceeding 50% of the total trachea length. 2 Attempts to provide support using various stents, comprising biodegradable alternatives and Palmaz stents, have achieved limited success. 19 The reported incidence of tracheal pathologies may appear relatively low; Nevertheless, factors like pre-hospital mortality and symptoms resembling other common diseases contribute to the underestimation of their true prevalence. ...
Restoration of extensive tracheal damage remains a significant challenge in respiratory medicine, particularly in instances stemming from conditions like infection, congenital anomalies, or stenosis. The trachea, an essential element of the lower respiratory tract, constitutes a fibrocartilaginous tube spanning approximately 10–12 cm in length. It is characterized by 18 ± 2 tracheal cartilages distributed anterolaterally with the dynamic trachealis muscle located posteriorly. While tracheotomy is a common approach for patients with short‐length defects, situations requiring replacement arise when the extent of lesion exceeds 1/2 of the length in adults (or 1/3 in children). Tissue engineering (TE) holds promise in developing biocompatible airway grafts for addressing challenges in tracheal regeneration. Despite the potential, the extensive clinical application of tissue‐engineered tracheal substitutes encounters obstacles, including insufficient revascularization, inadequate re‐epithelialization, suboptimal mechanical properties, and insufficient durability. These limitations have led to limited success in implementing tissue‐engineered tracheal implants in clinical settings. This review provides a comprehensive exploration of historical attempts and lessons learned in the field of tracheal TE, contextualizing the clinical prerequisites and vital criteria for effective tracheal grafts. The manufacturing approaches employed in TE, along with the clinical application of both tissue‐engineered and non‐tissue‐engineered approaches for tracheal reconstruction, are discussed in detail. By offering a holistic view on TE substitutes and their implications for the clinical management of long‐segment tracheal lesions, this review aims to contribute to the understanding and advancement of strategies in this critical area of respiratory medicine.
... It can manifest itself in the newborn period in the form of obstruction in the abdominal cavity or may be asymptomatic. This condition differs from other intra-abdominal cystic lesions by the presence of a normal mucous membrane of the gastrointestinal tract [1]. Duplications can be noncommunicating or communicating with the normal gastrointestinal lumen, with the latter having the possibility of causing more clinical symptoms, such as constipation or obstruction, due to the connection with the normal tract [2]. ...
Patient: Female, 64-year-old
Final Diagnosis: Situs inversus totalis and doubling of the esophagus, stomach, and first part of the duodenum
Symptoms: Epigastric abdominal pain
Clinical Procedure: Cystogastrostomy with stenting • esophagogastroduodenoscooy
Specialty: Anatomy • Gastroenterology and Hepatology
Objective
Congenital defects/diseases
Background
Duplication of the gastrointestinal tract is a rare congenital malformation that can develop in any part of the digestive tract. These duplications may be asymptomatic into adult age. Situs inversus totalis is a rare congenital anomaly characterized by a mirror transposition of thoracic and abdominal organs. We present a case of a pancreatic pseudocyst in a patient with a combination of situs inversus totalis and doubling of the esophagus, stomach, and first part of the duodenum.
Case Report
A 64-year-old woman presented with epigastric pain. Abdominal computed tomography revealed a pancreatic pseudocyst and a previously identified duplication of the esophagus, stomach, and duodenum with situs in-versus totalis. The patient underwent esophagogastroduodenoscopy (EGD) with endoscopic ultrasonography for pseudocyst drainage. During EGD, a bifurcation of the esophagus was found. Duplication of the esophagus, stomach, and first part of the duodenum was evident on further advancement. A week later, there was repeated filling of the pseudocyst with a liquid component, and the patient underwent cystogastrostomy with stenting. Five months after discharge, the stent was removed without complications.
Conclusions
Duplication of the gastrointestinal tract and situs inversus totalis are very rare congenital malformations that require early diagnosis. While situs inversus totalis does not represent any medical disadvantage, physicians should be aware of abnormal anatomy before procedures to prepare specialists for this in case of the need for special techniques. Endoscopic treatment of pancreatic pseudocysts is safe and effective even in such rare cases. The use of endoscopic methods also minimizes intervention and decreases the length of the patients’ stays in the hospital.
... Відсутність специфічних симптомів та візуальних проявів подвоєння шлунково-кишкового тракту (ШКТ) обумовлює значні труднощі у визначенні діагнозу, показів до хірургічного лікування, що може бути причиною як гіпо-так і гіпердіагностики, виникнення ускладнень [1][2][3]. Так, однією із найбільш поширених скарг у дитячому віці, є абдомінальний біль, який слід диференціювати за належністю до функціонального або одного із симптомів, притаманних гострій хірургічній патології [4,5]. Хірургічні причини абдомінального больового синдрому досить різноманітні і однією з них може бути подвоєння ШКТ [6][7][8]. ...
Duplication of the gastrointestinal tract is a rare congenital surgical malformation. The frequency of the anomaly is 1:4500 ofnewborns, the most frequent localization of the duplication is the iliac region of the small intestine – 33%, duplications of the jejunum make up 7-10% of the total number of cases. The complexity of diagnosis and choice of surgical tactics is due to the absence of specifi c symptoms, possible asymptomatic presence for a long time, clinical manifestations characteristic of other diseases. The article presents an example of a clinical case of doubling of the jejunum in a pediatric patient complicated by peptic ulcer and diff use peritonitis. Complaints, features of the diagnostic process at the prehospital stage, selected surgical tactics, and causes of complications were analyzed.Morphologic signs of jejunal duplication are given. The given clinical example proves that the cause of dyspeptic phenomena of long duration and abdominal pain of unknown origin in pediatric patients may be surgical pathology, in particular, doubling of the gastrointestinal tract complicated by infl ammation of the small intestine. Therefore, such patients need the consultation of a pediatric surgeon, search and detection of possible surgical pathology, including doubling of the intestine. The diagnostic methods for detecting this anomaly are radiography, ultrasound, and contrast- enhanced computed tomography (CECT). Perforation in GI duplication is one of the causes of peritonitis that should be considered by emergency pediatric surgeons in their practice. Timely determination of the patient’s gastrointestinal tract duplication allows the emergency surgeon to optimize diagnostic measures, optimal choice of surgical approach, predict the volume of surgical intervention, avoid possible complications, reduce the time and cost of treatment. Since the fi nal confirmation of the diagnosis of gastrointestinal tract duplication is the result of morphological examination, its performance is mandatory.
... Existen fórmulas predictivas para retirar la NP. A las 12 semanas de nutrición parenteral, el aporte de energía por vía enteral del 75 % implica un 90 % de probabilidad para el cese de NP, reduciéndose al 75 y 50 % si las calorías aportadas por vía enteral son del 50 y 25 %, respectivamente (61). ...
Introducción: Las atresias y estenosis intestinales, constituyen la principal etiología de obstrucción digestiva orgánica en la etapa de recién nacido. En los últimos años, la letalidad de estas afecciones ha disminuido en forma importante, de un 36,5 % en 1969 a un 10 %, según las revisiones más actuales. . Objetivo: Describir la evolución posquirúrgica a corto plazo de las atresias y estenosis intestinales en el Centro Regional de Cirugía Neonatal de Holguín, Cuba durante el período de enero de 2010 a diciembre de 2022. Métodos: Se realizó un estudio descriptivo, retrospectivo, de los 54 pacientes diagnosticados por estas afecciones, los que fueron relacionados con variables generales, epidemiológicas y clínicas. Resultados: La mortalidad de la serie fue de un 11,1 %. Predominó el sitio anatómico duodenal (62,9 %) y, como técnica quirúrgica inicial, la anastomosis primaria (77,7 %). Tuvo una evolución desfavorable el 29,7 % y la comorbilidad fue en el periodo neonatal (64,8 %) y en el primer año de vida (54,9 %). Conclusiones: Los factores pronósticos más significativos fueron la asociación a malformaciones congénitas complejas y el bajo peso al nacer. La evolución inadecuada estuvo favorecida por la presencia de condiciones anatómicas desfavorables, el desarrollo de enteropatía posoperatoria, así como tiempos prolongados de ayuno, nutrición parenteral y, por ende, de hospitalización. El seguimiento debe estar encaminado a las alteraciones del crecimiento y desarrollo, así como a la malabsorción asociada al síndrome de intestino corto. El buen funcionamiento de los protocolos actuales en uso permitirá mejorar la calidad de vida de estos pacientes.
... These malformations can cause feeding difficulties and digestive problems and may require surgical interventions. Environmental factors, genetic predisposition, and maternal health conditions can contribute to the development of gastrointestinal malformations [26]. Identifying and addressing the common congenital malformations in developing countries is essential for implementing targeted interventions, improving access to specialized care, and supporting affected individuals and their families. ...
Congenital malformations pose significant challenges in the low socioeconomic strata of developing countries. This review critically examines the prevalence, patterns, and factors influencing congenital malformations in these settings. It explores the physical, psychological, and economic consequences for affected individuals and their families and the social stigma and discrimination they face. The review highlights the importance of equity and access to healthcare services, the role of environmental factors and nutritional deficiencies, and the ethical considerations and policy implications associated with congenital malformations. Existing interventions, challenges in implementation, and innovative approaches are discussed. Gaps in knowledge and areas for further research are identified. Addressing congenital malformations in low socioeconomic strata requires multidisciplinary collaboration, advocacy, and inclusive policies. By prioritizing preventive measures, early detection, and comprehensive care, the burden of congenital malformations can be reduced, improving the quality of life for affected individuals and their communities.
... Small intestinal duplication is a rare congenital malformation with an incidence of approximately 1/4,500, and multiple small intestinal duplications are even rarer (1)(2)(3). Multiple small intestinal duplications are easily misdiagnosed because lesions can occur in any part of the small intestine. Therefore, a combined abdominal ultrasound and computed tomography (CT) examination before surgery is necessary, and laparoscopic exploration during surgery can further reduce the risk of missed diagnoses. ...
... The magnifying function of laparoscopy is conducive to intraoperative observation, and a clear field of vision can reduce missed or misdiagnoses (11). Eighty percent of intestinal duplications are cystic and most are located near the ileocecal junction (1,3,9). Surgery is the only Frontiers in Pediatrics effective treatment option. ...
Small-intestinal duplication is a rare congenital developmental anomaly that is mainly single; multiple small-intestinal duplications are rare. Most malformations are located in the ileocecal region. The primary surgical treatment is complete resection of the malformations and adjacent intestinal ducts. However, the ileocecal junction plays an important role in children, and it is difficult to preserve it; multiple intestinal repairs increase the risk of postoperative intestinal fistula, which is a challenge for pediatric surgeons. Herein, we report a case of ileocecal preservation surgery for the treatment of multiple small intestinal duplication malformations near the ileocecal area. The child underwent laparoscopically assisted cyst excision and multiple intestinal repairs and had good postoperative recovery and follow-up.
... Duplication cysts are congenital malformations that can form anywhere along the gastrointestinal tract at the mesenteric side [3]. More commonly affecting males, the overall estimated incidence is 1:4500 births [4][5][6]. Large bowel duplication cysts are rare, comprising only 6.8% of all duplication cysts [7,8]. ...
... By definition, they are comprised of a complete duplication of all layers of gastrointestinal tissue, including the mucosa, submucosa and a smooth muscle layer [5,6,8]. They often share the smooth muscle layer and the blood supply with the adjacent normal bowel, except for a rare variant of isolated duplication cysts [9,10]. ...
... Large cysts may be present with obstructive symptoms. Gastrointestinal bleeding may also be seen if heterotopic gastric mucosa is present, causing ulceration into adjacent vessels or organs [2,5,6]. There are also reports of duplication cysts diagnosed with intussusception, volvulus and perforation [12]. ...
Duplication cysts are rare benign congenital malformations typically identified in children by the age of 2 years. We report a rare case of colonic duplication cyst with dysplasia in an adult. A 32-year-old male presented with non-specific abdominal symptoms. Abdominopelvic computed tomography scan demonstrated a submucosal cystic lesion in the right colon. He underwent laparoscopic right hemicolectomy. Histopathology showed colonic duplication cyst with low grade dysplasia. He is due for a surveillance colonoscopy in three years. Duplication cyst
in an adult colon with dysplasia is extremely rare. They usually present in the terminal ileum. They present with non-specific abdominal symptoms or can be asymptomatic. They are often identified incidentally or intraoperatively. Imaging may,demonstrate a cystic lesion. Histopathology is required for definitive diagnosis.
There are noguidelines or consensus on managing duplication cysts in adults. We recommend an oncological resection of the involved colon. Surveillance with routine colonoscopy is advisable.
... Lecco's theory postulated the adherence of the right ventral bud to the duodenal wall with subsequent encircling of the intestine as a consequence of normal foregut rotation, while in Baldwin's theory it's the persisting left ventral bud, which encircles the duodenum. Intramural AP is associated with duodenal atresia 58 ; in extramural AP, the duodenal atresia/obstruction appears related to a mechanical effect 59,60 . ...
Congenital anomalies of the liver, biliary tree and pancreas are rare birth defects, some of which are characterized by a marked variation in geographical incidence. Morphogenesis of the hepatobiliary and pancreatic structures initiates from two tubular endodermal evaginations of the most distal portion of the foregut. The pancreas develops from a larger dorsal and a smaller ventral outpouching; emergence of the two buds will eventually lead to the fusion of the duct system. A small part of the remaining ventral diverticulum divides into a "pars cystica" and "pars hepatica", giving rise to the cystic duct and gallbladder and the liver lobes, respectively. Disruption or malfunctioning of the complex mechanisms leading to the development of liver, gallbladder, biliary tree and pancreas can result in numerous, albeit fortunately relatively rare, congenital anomalies in these organs. The type and severity of anomalies often depend on the exact moment in which disruption or alteration of the embryological mechanisms takes place. Many theories have been brought forward to explain their embryological basis; however, no agreement has yet been reached for most of them. While in some cases pathological evaluation might be more centered on macroscopic evaluation, in other instances small biopsies will be the keystone to understanding organ function and treatment results in the context of congenital anomalies. Thus, knowledge of the existence and histopathological characteristics of some of the more common conditions is mandatory for every pathologist working in the field of gastrointestinal pathology.
Morbidity and mortality in newborns with gastrointestinal malformations are high, even more so in low- and middle-income countries due to the need for immediate surgical care. However, the literature on these anomalies is scarce in Ecuador. This research aims to increase the registered data on the morbidity and mortality of newborns with gastrointestinal surgical pathology in Cuenca, Ecuador. A descriptive and cross-sectional study was carried out, involving 63 newborns with gastrointestinal surgical pathology admitted to the neonatology service of the Vicente Corral Moscoso Hospital. Data collection was done by reviewing medical records, using a form. The results showed that the mortality rate was higher in 2020. The majority of live newborns had esophageal atresia, they were male, born at term, with middle-aged mothers from urban areas. Of the deceased, the majority had a congenital diaphragmatic hernia, they were children of mothers from rural areas, and half died within 24 hours of being born, mainly from septic shock. In conclusion, the results of this study should not be considered definitive due to the omission of 23 clinical histories; moreover, a low mortality rate is evidenced. It was also observed that they died mainly from septic shock, a preventable cause of mortality from the first level of care with the detection of maternal risk factors. Keywords: morbidity, mortality, malformation, surgical neonate. Resumen Antecedentes: la morbimortalidad en recién nacidos con malformaciones gastrointestinales es elevada, más aún en países de ingresos medios y bajos debido a la necesidad de atención quirúrgica inmediata, sin embargo la literatura sobre estas anomalías es escasa en el Ecuador. Objetivos: incrementar los datos registrados sobre la morbimortalidad de recién nacidos con patología quirúrgica gastrointestinal en Cuenca, Ecuador. Métodos: se realizó un estudio descriptivo y transversal, participaron 63 recién nacidos con patología quirúrgica gastrointestinal ingresados en el servicio de neonatología del Hospital Vicente Corral Mosoco. La recolección de datos se realizó mediante la revisión de historias clínicas, empleando un formulario. Resultados: la tasa de mortalidad fue mayor, en el año 2020. La mayoría de recién nacidos vivos tenían atresia esofágica, eran hombres, nacidos a término, con madres de edad media, procedentes de zonas urbanas. De los fallecidos, la mayoría tenía hernia diafragmática congénita, eran hijos de madres procedentes de zonas rurales, la mitad murió a las 24 horas de nacido, principalmente de shock séptico. Conclusiones: los resultados de este estudio no deben considerarse como definitivos, debido a la omisión de 23 historias clínicas, se evidencia una baja tasa de mortalidad. También se observó que fallecieron principalmente de shock séptico, una causa de mortalidad prevenible desde el primer nivel de atención con la detección de factores de riesgo maternos. Palabras Clave: Morbilidad. Mortalidad. Malformación. Neonato quirúrgico.
