RESUMO
As far as we know, no report uses the Swenson transanal endorectal pull-through technique in an animal model. Our objective is to describe the use of this technique as an experimental model for training and research purposes. Ten Norfolk hybrid rabbits were randomly selected from our experimental laboratory, with a mean weight of 3539.3 (± 678.4) g. Neither colon preparation nor fast were used before the procedures. The surgical technique was based on the description performed by Levitt et al. (2013, J Pediatr Surg. 2013;48(11):2289-2295). Information related to the surgical procedures and the clinical evolution in the postoperative period were recorded and analyzed. There were no deaths or severe complications. The anesthetic and the surgical times were significantly higher for the first three animals of the experiment. Our animal model proved adequate to perform the transanal endorectal Swenson pull-through technique, allowing the training of surgical skills through a model similar to the human, with few anesthetic complications and good postoperative evolution, including postoperative follow-up. We believe that it will serve as a learning tool in many institutions that are continuously searching for improved new techniques and will support new researches in this area.
Assuntos
Modelos Animais , Reto , Animais , Coelhos , Reto/cirurgia , Canal Anal/cirurgia , Cirurgia Endoscópica Transanal/métodos , Humanos , Duração da CirurgiaRESUMO
INTRODUCTION: Hirschsprung's disease (HD) is characterized by the absence of ganglion cells in the submucosal and myenteric plexuses of the colon as a result of disorders in the migration and differentiation of enteric neural crest cells during embryogenesis. It is a cross-factor condition, with more than 11 genes identified in its pathogenesis, including the RET proto-onco gene. CASE REPORTS: We present the case of two siblings with total colon HD where a potentially pathogenic variant of the RET gene was found. Their father also had this condition. DISCUSSION: Prenatal diagnosis through genetic testing allows for informed decisions and care planning for the newborn, thus reducing delayed diagnosis and treatment, and minimizing long-term complications. Mutations such as the RET gene variant highlight the importance of the genetic approach in understanding and managing HD.
INTRODUCCION: La enfermedad de Hirschsprung (EH) se caracteriza por la ausencia de células ganglionares en los plexos submucoso y mientérico del intestino grueso, resultante de deficiencias en la migración y diferenciación de las células de la cresta neural entérica durante la embriogénesis. Es una condición multifactorial, con más de 11 genes identificados en su patogénesis, incluyendo el protooncogén RET. CASO CLINICO: Se presenta el caso de dos hermanos con EH de colon total, cuyo padre también padeció la enfermedad, y en quien se encontró una variante potencialmente patogénica en el gen RET. COMENTARIOS: El diagnóstico prenatal mediante pruebas genéticas permite decisiones informadas y la planificación de cuidados para el neonato afectado, reduciendo demoras en el diagnóstico y tratamiento, y minimizando las complicaciones a largo plazo. La identificación de mutaciones como la variante en el gen RET destaca la importancia del enfoque genético en la comprensión y manejo de la EH.
Assuntos
Doença de Hirschsprung , Feminino , Humanos , Recém-Nascido , Gravidez , Doença de Hirschsprung/diagnóstico , Doença de Hirschsprung/genética , Mutação , Diagnóstico Pré-Natal , Proteínas Proto-Oncogênicas c-ret/genéticaRESUMO
BACKGROUND: Surgeons create a neorectum to repair patients with Hirschsprung's disease (HD), which should be formed from a normoganglionic bowel. However, the neorectum is occasionally created with a transition zone (TZ) bowel. A neorectum created with a TZ has been postulated as a cause of postoperative enterocolitis or constipation. This study compares the incidence of enterocolitis and constipation in patients with TZ neorectum and normoganglionic bowel. METHODS: We conducted a retrospective review of patients with rectosigmoid HD who underwent primary pull-through. Patients were divided into normoganglionic neorectum (NNR) and TZ neorectum. The diagnosis was based on the final histopathologic report of the proximal margin. The incidence of enterocolitis and constipation was compared between these two groups. RESULTS: A total of 98 HD patients were analyzed. Seventy-one patients fulfilled the inclusion criteria. 65 (92%) had a NNR, and six patients (8%) had a TZ neorectum. From these patients, 42 (59%) presented with enterocolitis or constipation. However, there was no significant difference between both groups. CONCLUSION: The present study showed no difference in the incidence of enterocolitis or postoperative constipation in HD patients with normoganglionic or TZ neorectum. These results suggest that TZ neorectum does not cause postoperative obstructive symptoms.
INTRODUCCIÓN: Los cirujanos crean un neo-recto para tratar a los pacientes con enfermedad de Hirschsprung (EH), que debe formarse con intestino normogangliónico; sin embargo, en ocasiones el neo-recto se forma con intestino de la zona de transición. Se ha postulado que un neo-recto en zona de transición causa enterocolitis o estreñimiento postoperatorio. El objetivo de este estudio fue comparar la frecuencia de enterocolitis y estreñimiento en pacientes con neo-recto en zona de transición y con neo-recto normogangliónico. MÉTODOS: Se llevó a cabo una revisión retrospectiva de pacientes con EH recto sigmoideo que se sometieron a descenso primario. Los pacientes se dividieron en el grupo neo-recto normogangliónico y el grupo con neo-recto en zona de transición. El diagnóstico del neo-recto se estableció con el informe histopatológico definitivo del margen proximal. Se comparó la frecuencia de enterocolitis y estreñimiento entre estos dos grupos. RESULTADOS: Se analizó un total de 98 pacientes con EH, de los cuales 71 pacientes cumplieron los criterios de inclusión; 65 (92%) con neo-recto normogangliónico y seis (8%) con neo-recto en zona de transición. Posteriormente, 42 (59%) pacientes presentaron enterocolitis asociada a Hirschsprung (HAEC) o estreñimiento; sin embargo, no hubo diferencia significativa entre ambos grupos. CONCLUSIONES: El presente estudio no demostró una diferencia en la frecuencia de HAEC o estreñimiento postoperatorio en pacientes con EH con neo-recto normogangliónico o en zona de transición. Estos resultados sugieren que un neo-recto en zona de transición no causa síntomas obstructivos postoperatorios.
Assuntos
Enterocolite , Doença de Hirschsprung , Humanos , Doença de Hirschsprung/cirurgia , Doença de Hirschsprung/diagnóstico , Doença de Hirschsprung/patologia , Complicações Pós-Operatórias/epidemiologia , Complicações Pós-Operatórias/etiologia , Complicações Pós-Operatórias/patologia , Constipação Intestinal/etiologia , Constipação Intestinal/complicações , Reto/cirurgia , Reto/patologia , Enterocolite/epidemiologia , Enterocolite/etiologia , Enterocolite/patologiaRESUMO
Context: Hirschsprung's disease (HD) is one of the commonest problems requiring surgery in children. More than 95% of children present during new-born period, when they are treated with leveling colostomy and are followed with pull-through surgery a few months later, once the child has gained adequate weight to withstand a major surgery. The commonest pull through surgery done is the Duhamel retro-rectal pull-through (DRPT) repair. Settings and Design: This is a retrospective study of children who presented to one unit in our institute, a tertiary care referral hospital for children less than 12 years, with HD and underwent DRPT procedure during the period between July 2017 to June 2020. The children were evaluated after three years of follow-up for fecal incontinence and constipation. The study was conducted in children diagnosed with classical segment recto-sigmoid HD who underwent surgery. The children who were diagnosed with HD other than classical segment, who underwent primary pull through surgery and who underwent other repairs for HD were excluded from the study. Results: Thirty-two children underwent DRPT procedure during the study period. Of them, five (15.6%) children were lost on follow-up and one (3.1%) child had expired in the immediate post-operative period. Twenty-six children were included in the study. The bowel function score was calculated. The mean age of definitive surgery was 4.2 years. The follow-up period was a minimum of three years. Only two children had a "good" score of eighteen and above. Nineteen children had a "fair" score of 13-17. Five children had a "poor" score of less than thirteen, and among them, two had a "very poor" score of less than nine. The mean BFS was 13.72. Conclusions: Functional outcomes following Duhamel procedure are satisfactory, with 7.7% of children are in the fringe of requiring another surgery for constipation and pseudo-incontinence. (AU)
Assuntos
Humanos , Masculino , Feminino , Resultado do Tratamento , Colo/cirurgia , Doença de Hirschsprung/terapia , Qualidade de Vida , Perfil de Saúde , Estudos Retrospectivos , DefecaçãoRESUMO
La enfermedad de Hirschsprung (EH) es infrecuente y la mayoría de los escasos casos se presentan en neonatos, raramente se diagnostica durante la adolescencia y menos son los casos documentados. Se presenta el caso de un varón de 16 años quien experimentó 15 días de estreñimiento, anorexia, vómitos postprandiales y distensión abdominal. Los exámenes imagenológicos mostraron un fecaloma masivo que obstruía el colon, y el examen anatomopatológico señaló EH. Ante el fracaso de medidas conservadoras de evacuación se realizó una hemicolectomía izquierda ampliada y una colostomía, más apendicectomía por obstrucción intestinal. El paciente fue dado de alta con antibioticoterapia. Este caso resalta la importancia de considerar EH en adolescentes con estreñimiento crónico y masas abdominales. Aunque los pacientes pueden experimentar problemas postoperatorios, la cirugía es el tratamiento más efectivo para la EH.
Hirschsprung's disease (HD) is uncommon, and most of the cases occur in neonates. It is rarely diagnosed during adolescence, and even fewer cases are documented. We present the case of a 16-year-old male who had 15 days of constipation, anorexia, postprandial vomiting and abdominal distension. Imaging examinations showed a massive fecaloma obstructing the colon, and histopathological examinations showed HD. Given the failure of conservative evacuation measures, an extended left hemicolectomy and colostomy were performed, plus appendectomy for bowel obstruction. The patient was discharged with antibiotic therapy. This case highlights the importance of considering HD in adolescents with chronic constipation and abdominal masses. Although patients may experience postoperative problems, surgery is the most effective treatment for HD.
RESUMO
Abstract Background: Surgeons create a neorectum to repair patients with Hirschsprung´s disease (HD), which should be formed from a normoganglionic bowel. However, the neorectum is occasionally created with a transition zone (TZ) bowel. A neorectum created with a TZ has been postulated as a cause of postoperative enterocolitis or constipation. This study compares the incidence of enterocolitis and constipation in patients with TZ neorectum and normoganglionic bowel. Methods: We conducted a retrospective review of patients with rectosigmoid HD who underwent primary pull-through. Patients were divided into normoganglionic neorectum (NNR) and TZ neorectum. The diagnosis was based on the final histopathologic report of the proximal margin. The incidence of enterocolitis and constipation was compared between these two groups. Results: A total of 98 HD patients were analyzed. Seventy-one patients fulfilled the inclusion criteria. 65 (92%) had a NNR, and six patients (8%) had a TZ neorectum. From these patients, 42 (59%) presented with enterocolitis or constipation. However, there was no significant difference between both groups. Conclusion: The present study showed no difference in the incidence of enterocolitis or postoperative constipation in HD patients with normoganglionic or TZ neorectum. These results suggest that TZ neorectum does not cause postoperative obstructive symptoms.
Resumen Introducción: Los cirujanos crean un neo-recto para tratar a los pacientes con enfermedad de Hirschsprung (EH), que debe formarse con intestino normogangliónico; sin embargo, en ocasiones el neo-recto se forma con intestino de la zona de transición. Se ha postulado que un neo-recto en zona de transición causa enterocolitis o estreñimiento postoperatorio. El objetivo de este estudio fue comparar la frecuencia de enterocolitis y estreñimiento en pacientes con neo-recto en zona de transición y con neo-recto normogangliónico. Métodos: Se llevó a cabo una revisión retrospectiva de pacientes con EH recto sigmoideo que se sometieron a descenso primario. Los pacientes se dividieron en el grupo neo-recto normogangliónico y el grupo con neo-recto en zona de transición. El diagnóstico del neo-recto se estableció con el informe histopatológico definitivo del margen proximal. Se comparó la frecuencia de enterocolitis y estreñimiento entre estos dos grupos. Resultados: Se analizó un total de 98 pacientes con EH, de los cuales 71 pacientes cumplieron los criterios de inclusión; 65 (92%) con neo-recto normogangliónico y seis (8%) con neo-recto en zona de transición. Posteriormente, 42 (59%) pacientes presentaron enterocolitis asociada a Hirschsprung (HAEC) o estreñimiento; sin embargo, no hubo diferencia significativa entre ambos grupos. Conclusiones: El presente estudio no demostró una diferencia en la frecuencia de HAEC o estreñimiento postoperatorio en pacientes con EH con neo-recto normogangliónico o en zona de transición. Estos resultados sugieren que un neo-recto en zona de transición no causa síntomas obstructivos postoperatorios.
RESUMO
BACKGROUND: Hirschsprung's Disease (HD) is characterized by intestinal sub-occlusion and the absence of enteric ganglion cells. A rectal biopsy examination is performed to confirm the diagnosis. In a recent study, we demonstrated that the analysis of 60 sections of rectal mucosa and submucosa stained by H&E may ensure a 90% diagnostic accuracy. Although the need to analyze so many sections makes the process of reading the slides more time-consuming, this encouraged us to study their distribution in the healthy rectal submucosa, to simplify the diagnosis. OBJECTIVES: To develop a method that facilitates HD diagnosis by studying the distribution of ganglion cells in the submucosal plexus. METHODS: Using the calretinin technique, we studied the distribution of plexuses in 60 fragments of rectal submucosa from 19 cadavers. After the study, the reading method created was used for diagnosis in 47 cases of suspected HD, using H&E staining. The accuracy was verified by comparing the results obtained with H&E to those obtained with the acetylcholinesterase technique, the golden standard in our laboratory. RESULTS: The study of submucosal plexus distribution showed that just by examining the submucosal region every 20 µm, approximately, it is possible to locate a ganglionic plexus, and we have already been able to diagnose HD with 93% accuracy. CONCLUSION: The study of ganglion cell distribution enabled the creation of a simplified method for reading the slides. The method applied achieved good accuracy and it can be used as an alternative method in HD diagnosis.
Assuntos
Doença de Hirschsprung , Humanos , Lactente , Doença de Hirschsprung/diagnóstico , Doença de Hirschsprung/patologia , Acetilcolinesterase/análise , Reto/química , Reto/patologia , Biópsia/métodosRESUMO
Abstract Background: Hirschsprung's Disease (HD) is characterized by intestinal sub-occlusion and the absence of enteric ganglion cells. A rectal biopsy examination is performed to confirm the diagnosis. In a recent study, we demonstrated that the analysis of 60 sections of rectal mucosa and submucosa stained by H&E may ensure a 90% diagnostic accuracy. Although the need to analyze so many sections makes the process of reading the slides more time-consuming, this encouraged us to study their distribution in the healthy rectal submucosa, to simplify the diagnosis. Objectives: To develop a method that facilitates HD diagnosis by studying the distribution of ganglion cells in the submucosal plexus. Methods: Using the calretinin technique, we studied the distribution of plexuses in 60 fragments of rectal submucosa from 19 cadavers. After the study, the reading method created was used for diagnosis in 47 cases of suspected HD, using H&E staining. The accuracy was verified by comparing the results obtained with H&E to those obtained with the acetylcholinesterase technique, the golden standard in our laboratory. Results: The study of submucosal plexus distribution showed that just by examining the submucosal region every 20 µm, approximately, it is possible to locate a ganglionic plexus, and we have already been able to diagnose HD with 93% accuracy. Conclusion: The study of ganglion cell distribution enabled the creation of a simplified method for reading the slides. The method applied achieved good accuracy and it can be used as an alternative method in HD diagnosis.
RESUMO
BACKGROUND: Hirschsprung's disease is characterized by the absence of enteric ganglia in the distal digestive tract; being usually diagnosed in neonates, it rarely debuts during adulthood, where it presents as chronic constipation refractory to treatment. CASE REPORT: 24-year-old female patient with Hirschsprung's disease who arrives to the emergency room with a sigmoid volvulus requiring urgent surgical therapy. CONCLUSIONS: Hirschsprung's disease doesn't frequently debut in adulthood, presenting a diagnostic and therapeutic challenge for the general surgeon, especially when dealing with its complications.
ANTECEDENTES: La enfermedad de Hirschsprung se caracteriza por un defecto de las células nerviosas en el intestino distal. Suele diagnosticarse durante los primeros años de vida, rara vez debutando en adultos, en quienes se manifiesta como una constipación crónica refractaria al tratamiento. CASO CLÍNICO: Mujer de 24 años con enfermedad de Hirschsprung no diagnosticada, quien acude a urgencias por un cuadro de vólvulo de sigmoides que requiere intervención quirúrgica. CONCLUSIONES: La enfermedad de Hirschsprung rara vez debuta en la edad adulta y generalmente se diagnostica secundaria a sus complicaciones, por lo que supone un reto diagnóstico y terapéutico para el cirujano general.
Assuntos
Doença de Hirschsprung , Recém-Nascido , Humanos , Adulto , Adulto Jovem , Doença de Hirschsprung/complicações , Doença de Hirschsprung/cirurgiaRESUMO
Introdução: A doença de Hirschsprung, também conhecida como megacólon congênito, apresenta alterações na inervação entérica distal. Durante o período neonatal, apresenta-se através da tríade clássica de vômitos, distensão abdominal e atraso na eliminação meconial. Objetivo: Descrever quadro clínico de paciente do sexo masculino diagnosticado com megacólon congênito, brida congênita e má rotação intestinal. Comentário: Embora seja uma doença congênita, nem sempre o diagnóstico ocorre durante o período neonatal, devendo ser cogitada no raciocínio diagnóstico de pacientes mais velhos com história de constipação refratária ao tratamento. Aproximadamente 20% das crianças tem evolução pós-cirúrgica ruim, sendo a constipação a queixa mais comum, tendendo a melhorar com o passar dos anos. Não foi encontrado na literatura a associação de bridas congênitas, má rotação intestinal e doença de Hirschsprung. [au]
Introduction: Hirschsprung's disease, also known as congenital megacolon, presents alterations in the distal enteric innervation. During the neonatal period, it presents through the classical triad of vomiting, abdominal distension and delayed meconium elimination. Objective: To describe clinical case of a male patient diagnosed with congenital megacolon, whose initial presentation was neonatal intestinal obstruction attributed to congenital adhesion bands and intestinal malrotation and Hirschsprung's disease. Comments: Although it is a congenital disease, the diagnosis does not always occur during the neonatal period and should be considered in the diagnostic reasoning of older patients with a history of constipation refractory to treatment. Approximately 20% of children have negative outcomes on the postoperative course, with constipation being the most common complaint, tending to improve over the years. No association was found in the literature with congenital band, intestinal malrotation and Hirschsprung's disease. [au]