Obstrucción intestinal por fecaloma gigante en adolescente con enfermedad de Hirschsprung

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.

Assessment of functional outcome following Duhamel retro-rectal pull-through surgery for Hirschsprung's disease: a follow-up study

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)

Histological transitional zone pull-through in Hirschsprung disease. Postoperative functional results and current recommendations / Descenso en zona de transición histológica en la enfermedad de Hirschsprung. Resultados funcionales postoperatorios y recomendaciones actuales

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.

A new systematization of histological analysis for the diagnosis of Hirschsprung's disease

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.

Associação de doença de Hirschsprung e brida de Ladd em um neonato / Association of Hirschsprung's disease and Ladd's band in a newborn

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]

Outcome Analysis of Colostomy Closure in Different Pediatric Surgical Conditions: A Pediatric Tertiary Care Hospital Study in Bangladesh

Background: A Colostomy is a revocable surgical procedure an incision in the anterior abdominal wall and suturing it into place in which a stoma is formed by drawing the healthy end of the large intestine or colon through. This opening, in conjunction with the attached stoma appliance, provides an alternative channel for feces to leave the body. Due to anatomical defects frequently referred for closure colostomy, colostomies are often used in cases of imperforate anus and other conditions. The neonatal & children who are unable to pass feces normally and safely. pediatrics colostomy. Some neonates require emergency surgery on their tummy in the first few months of life. It is most commonly due to being born prematurely and developing a bowel problem or a blockage of the bowel. As part of this surgery, the ends of the bowel may be brought to the skin surface to divert stool into a bag called a colostomy. Intended to be temporary with reversal, later on, the stoma allows time for the bowel to rest and recover. Aim of the study: To find out the outcome analysis of colostomy closure in different pediatric surgical conditions and were reviewed to look for complications following closure colostomy.Material & Methods:This prospective was conducted in the department of Pediatrics Surgery Bangladesh Shishu Hospital & Institute, Dhaka, and Lubana General Hospital & Cardiac Center, Dhaka, Bangladesh from July 2014 to June 2021. A total of 86 patients who underwent colostomy closure were enrolled in this prospective study as the study population. Data including age, gender, surgical conditions, complications of the patients and oral feeding, and bowel preparation were all collected from the patients’ parents or hospital admission files.Results:Out of 86 cases included the age range from 8 months-10 years. There were 37(43.0%) females and 49(57.0%) males and there were more difficulties with Anorectal malformation (43.02%) than with Hirschsprung disease (40.7%). There was no record of using Necrotizing Enterocolitis, in surgical patients. The risk of wound infection and leakage was greater than any other consequence in the patients. The illness known as colostomy was predominantly encountered in men. No morbidity was recorded in this study. Conclusions:Proper stoma care, the use of well-fitting colostomy bags, and early colostomy closure enhance the prognosis. Prior to surgery, encourage thorough mechanical bowel preparation and antibiotic use. The key to a successful colostomy closure for anti-surgical diseases is appropriate IV feeding after surgery.

An Unusual Presentation of Congenital Megacolon with A Rare Vascular Anomaly A Case Report

Congenital megacolon also referred to as Hirschsprung’s disease or aganglionic megacolon is characterized by the absence of nerve plexus in the colon, it rarely affects the small intestine. Whereas acquired megacolon is a constant dilatation of the large intestine in the absence of disease but occurs due to various factors such as infections, emotional disturbances, stress, or secondary to inflammatory bowel diseases (IBD) such as ulcerative colitis, Crohn’s disease, and proctocolitis. In the present case, we report here an unusual form of megacolon. The sigmoid colon was significantly enlarged but twisting or volvulus was not detected. The ascending, transverse, and remaining part of descending colon and mesentery appeared normal, The possibility of false rotation of the gut was excluded. Interestingly, the artery supplying the left one-third of the transverse colon and descending colon originated from a branch of the middle colic artery. This anomalous artery was found to form a communication with the trunk of the inferior mesenteric artery, the Arc of Riolan, and gave branches that supplied the descending colon. The left colic artery was absent. The transverse colon showed a stricture between its right 2/3rd and left 1/3rd, confirming with vascular accidents, resulting in anomalous blood supply and aganglionosis. The dilated part of the sigmoid colon was found to be with ganglion cells, while the distal part after the megacolon, lacked ganglion cells in all layers of the sigmoid colon. This case documents a very rare finding which will make the surgeons aware of a newer arterial pattern associated with congenital megacolon.

Hirschsprung’s disease and associated syndrome and malformation: A case series of four cases

Hirschsprung’s disease is a genetic disorder characterized by the absence of ganglion cells in different lengths of the intestine. It is one of the common causes of intestinal obstruction in neonates. We treated four cases of syndromic Hirschsprung’s disease from January 2017 to January 2020 in a Tertiary care hospital. The biopsy specimens from spastic segment and colostomy or ileostomy sites were sent for evaluation of ganglion cells. Two different syndromes and one associated malformation and neoplasm were detected in patients of Hirschsprung’s disease during this 3-year case study.

Mowat-Wilson syndrome with Hirschsprung′s disease and vaginal atresia: case report and literature review / 中华实用儿科临床杂志

Clinical phenotypes and gene characteristics of a patient diagnosed with Mowat-Wilson syndrome (MWS) with Hirschsprung′s disease (HSCR) and vaginal atresia in the Department of Neonatal Surgery, Beijing Children′s Hospital, Capital Medical University in March 2021 were analyzed retrospectively.The eight-month-old girl was admitted to the hospital with symptoms of constipation for nine days and abdominal distension for two days.Lower digestive tract radiography and rectal mucosa biopsy results suggested HSCR.The child also had specific facial features and motor development delay.Whole exome test showed a de novo heterozygous mutation, ZEB2 gene c. 2761C>T (p.R921*). After laparoscopic-assisted Soave procedure, the child had normal bowel movements, and no surgery-related compli-cations occurred during the follow-up period.The child′s motor development improved after rehabilitation treatment.According to literature review, 2 female cases show similar clinical manifestations to this girl, but the genotypes were different.This patient expands the clinical phenotype of ZEB2 gene pathogenicity.

Selection of second stage operation after enterostomy in 35 neonates / 中华实用儿科临床杂志

Objective:To explore the strategy of selecting the second stage operation after neonatal enterostomy.Methods:Clinical data of 35 cases admitted to the Department of Pediatric Surgery of Henan Provincial People′s Hospital for enterostomy in neonatal period and radical operation in the second stage from May 2014 to December 2019 were subject to retrospective analysis.They were inquired about the medical history in detail before the operation, and received barium enema and colonoscopy, 24-hour delayed radiography, anorectal manometry and other examinations.During the operation, a multi-point intestinal biopsy and rapid frozen pathological examination were performed accor-ding to the individual′s condition, and the specific surgical method was determined in combination with intraoperative exploration.Postoperative observations were conducted for such complications as anastomotic leakage, intestinal obstruction, and abdominal infection, as well as such medium and long-term outcomes as intestinal function recovery, defecation, and nutritional status.Results:Nine cases were diagnosed with neonatal necrotizing enterocolitis (NEC) and received ostomy closure.Sixteen cases were diagnosed with NEC concomitant with intestinal stenosis and received the narrow bowel enterectomy and anastomosis combined with ostomy closure; 10 cases were diagnosed with Hirschsprung′s disease, including 5 cases of total colonic aganglionosis treated with Soave radical operation, 3 cases of long-segment Hirschsprung′s disease treated with subtotal colectomy, inverted ascending coloanal anastomosis with Deloyers method and second enterostomy, and 2 cases of normal-segment Hirschsprung′s disease treated with pull-through operation combined with ostomy closure.After the operation, 1 case had anastomotic leakage and septic shock, 1 case had incision dehiscence, 3 cases had adhesive intestinal obstruction and 1 case occurred left lung consolidation.During a follow-up period of 3-36 months, their recovery condition was acceptable.Conclusions:For those neonates receiving enterostomy, detailed medical history should be enquired before the second stage operation.The combination of barium enema and colonoscopy, 24-hour delayed radiography and multi-point intestinal biopsy with intraoperative exploration conduced to selecting appropriate individualized surgical schemes and reducing surgical complications, thus improving the long-term quality of life of children.

Recomendaciones para el diagnóstico y el tratamiento de los síntomas posquirúrgicos persistentes en la enfermedad de Hirschsprung / Recommendations for the diagnosis and treatment of persistent postsurgical symptoms in Hirschsprung disease

La enfermedad de Hirschsprung ocurre en 1 de cada 5000 nacimientos. La falla de migración de las células ganglionares desde la cresta neural en dirección cefalocaudal genera su ausencia en parte o todo el colon. Se manifiesta con falta de eliminación de meconio, distensión abdominal y dificultades en la evacuación. Luego del tratamiento quirúrgico, existen complicaciones a corto y largo plazo. El objetivo de esta publicación es describir las principales causas de síntomas persistentes en los pacientes operados por enfermedad de Hirschsprung y presentar un algoritmo diagnóstico-terapéutico factible de ser realizado en nuestro medio

Hirschsprung disease is characterized by the lack of migration of intrinsic parasympathetic ganglia from neural crest and consequently absence of them at varying length of the bowel, resulting in functional obstruction. The incidence is 1 per 5000 births. After surgery, short term and long term comorbidity commonly occurs. The aim of this article is to revise the main causes of ongoing symptoms after surgery in Hirschsprung disease patients and to show a diagnostic and therapeutic algorithm that can be developed in our community

A Study of Gastrointestinal Tract Obstruction in Neonates and Its Management

Gastrointestinal tract obstructions are the most common surgical emergencies in neonatal period. The aetiology of these disorders is diverse and mostly the consequences prenatal developmental malformations. The management and survival are still a challenge, especially in developing countries like India.METHODSA prospective observational study was conducted in a tertiary care paediatric institute from October 2016 to September 2019. Newborns in the age group of one to 28 days, who were operated in the hospital for gastrointestinal tract obstruction were analysed. Institutional Ethics Committee approval was taken. Data with regard to demographic patterns, clinical profile, management approach and outcome, were collected and analysed.RESULTSOut of 531 newborns operated for gastrointestinal obstruction, 80% cases presented within first week of life. Male neonates were more commonly affected than females (M: F=2.2:1) and 58% cases were having low birth weight. Anorectal malformation was the commonest cause of obstruction (40.7% cases) followed by intestinal atresia (18% cases). Hirschsprung’s disease, malrotation, meconium ileus and hypertrophic pyloric stenosis were among the important aetiologies. The overall mortality in this study was 13% and septicaemia was the leading cause.CONCLUSIONSAetiology of gastrointestinal obstruction in newborn is diverse ranging from oesophageal atresia to anorectal malformations. Low birth weight and other co-morbidities are associated in many cases. The overall outcome is in improving trend due to gradual understanding about the pathology and advancement of neonatal care. Early diagnosis, surgical intervention and availability of well-equipped neonatal intensive care unit facility are essential for better survival.

Profile of Hirschsprung's disease cases diagnosed in tertiary care teaching hospital: a retrospective observational study

Background: To date, there are very few studies of Hirschsprung's disease. Hence, the study was conducted to profile Hirschsprung's disease in a tertiary care setting.Methods: This is a retrospective observational study that evaluated the admitted patients with Hirschsprung's disease in the pediatric surgery department. Biopsy was taken from the patient in the form of the full thickness of intestine, seromuscular biopsy, resection from the colostomy site when doing closure and or appendix was taken and subjected to histopathological study with routine eosin and haematoxylin stain.Results: Among the study population, 21(28.8%) children were aged less than one month, and only 10(13.7%) were aged 11 years and above. There were 45(61.6%) participants were male and 28(38.4%) female. Most common biopsy site was appendix in 33(46.2%), followed by Ileum full-thickness biopsy in 6(8.2%) , Ileum Seromuscular biopsy in 5(6.8%%) ,Colon full-thickness biopsy in 4(5.6%) subjects. Among the 73 participants, 46(63%) were clinically suspected cases, and the remaining 27(36.9%) were clinically established cases. Among clinically suspected, the majority (50.7%) had ganglionic cells only in proximal segments.Conclusions: the Hirschsprung's disease diagnosis was established mostly in younger males.

A prospective observational study of associated anomalies in hirschsprung's disease

Background: Hirschsprung's Disease (HSCR) is the commonest congenital gut motility disorder and is characterized by the absence of ganglion cells in a variable length of the distal gut. According to literature , HRSCD may be associated with a chromosomal abnormality or other congenital anomalies in approximately 20% of cases HSCR appeared to be a multifactorial malformation with low, sex dependent penetrance and variable expression according to the length of the a ganglionic segment, suggesting the involvement of one or more gene (s) with low penetrance. So far, eight genes have been found to be involved in HSCR. This frequent congenital malformation now stands as a model for genetic disorders with complex patterns of inheritance. The objective of this study was to collect and study personal and family history and any information regarding known associated anomalies in patients diagnosed as Hirschsprung's disease.Methods: Here author present a series of 89 consecutive HSCR patients who were admitted or attended the Pediatric Surgery OPD of in a tertiary care Government medical college, who were evaluated for associated malformations with the help of available non-invasive investigation.Results: Congenital heart diseases and Down's syndrome were the two most common associated anomalies. Genitourinary anomalies, Limb anomalies and central nervous system anomalies were other associated anomalies. Conclusions: This study confirmed the underestimation of certain associated anomalies in Hirschsprung patients, such as CNS anomalies. Based on the results of this study, in addition to meticulous general examination author suggest performing cardiologic assessment in patients diagnosed with Hirschsprung's disease based on clinical features and according to the standards of care adopted for the general population.

Oblique vs. circular anastomosis in the children underwent soave's pull-through surgery for the treatment of hirschsprung's disease: which is the best? / Anastomose oblíqua vs. circular em crianças submetidas à soave pull-through para o tratamento da doença de hirschsprung: qual é a melhor?

ABSTRACT Background: Several types of complications including constipation, fecal soiling, perianal excoriation, were reported among different types of surgery for Hirschsprung's disease. Aim: To compare circular and oblique anastomoses following Soave's procedure for the treatment of Hirschsprung's disease. Methods: Children who underwent Saove's pull through procedure with oblique and circular anastomoses were included. Duration of the follow up was two years after surgery. Postoperative complications, such as wound infection, wound dehiscence, peritonitis, fecal soiling, perianal excoriation, were recorded for each patient. Results: Thirty-eight children underwent oblique anastomoses. Circular ones were done for 32 children. Perianal excoriation was seen in 57.89% and 46.87% of children in oblique and circular group, respectively. Enterocolitis was more frequent in circular (40.62%) than oblique (28.94%) group. Anastomotic stricture was more frequent in circular (15.62%) than oblique (7.89%). Conclusion: Perianal excoriation was the most common complication among patient in both groups. Oblique anastomoses had fewer complications than circular, and may be appropriate option for patient who underwent Soave's procedure.

RESUMO Racional: Vários tipos de complicações, incluindo constipação, secreção fecal, escoriação perianal foram relatadas entre diferentes tipos de operações para a doença de Hirschsprung. Objetivo: Comparar as anastomoses circulares e oblíquas realizadas no procedimento de Soave para o tratamento da doença de Hirschsprung. Métodos: Neste estudo, foram incluídas crianças submetidas ao procedimento pull-through de Saove com anastomoses oblíquas e circulares. A duração do acompanhamento foi de dois anos no pós-operatório. Complicações, como infecção da ferida, deiscência da ferida, peritonite, secreção fecal, escoriação perianal foram registradas para cada paciente. Resultados: Trinta e oito crianças foram submetidas à anastomoses oblíquas. As circulares foram realizadas em 32. Escoriação perianal foi observada em 57,89% e 46,87% das crianças nos grupos oblíquo e circular, respectivamente. Enterocolite foi mais frequente no grupo circular (40,62%) do que oblíquo (28,94%). A estenose anastomótica foi mais frequente na circular (15,62%) do que na oblíqua (7,89%). Conclusão: A escoriação perianal foi a complicação mais comum entre os pacientes nos dois grupos. A anastomose oblíqua teve menos complicações do que a anastomose circular e pode ser a opção adequada para o paciente submetido ao procedimento de Soave.

Vivencias de los padres o cuidadores de niños con enfermedad de Hirschsprung o con malformaciones anorrectales, bajo seguimiento después de la cirugía / Experiences of parents and/or caretakers of children with Hirschsprung's disease or anorectal malformations during follow-up after pediatric surgery

Resumen Introducción. La enfermedad de Hirschsprung y las malformaciones anorrectales son enfermedades que afectan a los niños y comprometen su vida desde el nacimiento, por lo que su diagnóstico y tratamiento temprano son esenciales. Las comorbilidades que implican a largo plazo llevan a los padres y cuidadores a situaciones que pueden generar graves complicaciones para el niño si no se cuenta con el acompañamiento adecuado. Objetivo. Describir y analizar las vivencias de los padres de niños con enfermedad de Hirschsprung o malformaciones anorrectales bajo seguimiento tras haber sido sometidos a cirugía. Materiales y métodos. Se hizo un estudio cualitativo con un enfoque fenomenológico mediante entrevistas a cinco padres de niños con enfermedad de Hirschsprung y a otros cinco de niños con malformaciones anorrectales. Resultados. Se encontraron experiencias comunes, de las cuales surgieron los siguientes temas: a) el diagnóstico difícil, debido a los sentimientos y al impacto generados por la noticia, situación que no siempre es detectada tempranamente por el personal de salud; b) el tratamiento, el cual provoca aislamiento social por las hospitalizaciones y la presencia de una ostomía, además de que los recursos se concentran en el niño en detrimento del hogar; se requiere capacidad de afrontamiento para lograr la reparación quirúrgica definitiva, y c) el contexto, ya que las instituciones de salud pueden convertirse en barreras; además, el personal de salud debe disponer de mayor educación al respecto y son necesarias las redes de apoyo social. Conclusión. Las vivencias reflejan que el diagnóstico, el tratamiento y el contexto generan un gran impacto en las vidas de los padres o cuidadores de niños con estas condiciones.

Abstract Introduction: Hirschsprung's disease and anorectal malformations are pathologies that affect the pediatric population and compromise life from birth, making diagnosis and early treatment essential. The comorbidities they lead to in the long-term take parents and caretakers to situations that, without proper accompaniment, can generate serious complications in the child. Objective: To describe the meaning of the experiences of parents of children with Hirschsprung's disease or anorectal malformations who have had surgical treatment and are being followed-up. Materials and methods: This was a phenomenological qualitative research carried out through interviews with five parents of children with Hirschsprung's disease and five parents of children with anorectal malformations. Results: We found common experiences from which the following topics emerged: a) Difficult diagnosis, which involves the feelings and the impact generated by receiving this news; for health personnel it is not always a situation that is identified early; b) treatment: Social isolation due to hospitalizations and the presence of an ostomy, in addition to the channeling of resources for the child at the expense of those of the home; coping skills are required to achieve definitive surgical repair; and c) context: Health institutions may become barriers and health personnel must have more education in this regard; social support networks are necessary. Conclusion: The experiences reflected that diagnosis, treatment, and context generated great impact on the lives of parents and/or caretakers of children with these pathologies.

Primary Transanal Swenson’s Pull-through in Hirschsprung’s Disease in SRHF, Mizoram, India

The purpose of this study was to analyze the patients of Hirschsprung’s disease (HD) who undergone primary Transanal Swenson’s Pullthrough operation, its short and intermediate term outcome in neonates, infants and children in the department of General/Pediatric Surgery in State Referral Hospital, Falkawn (SRHF)/MIMER, Mizoram, India. Methods: Twenty four patients with rectosigmoid HD underwent single-stage transanal Swenson’s procedure. The contrast enema finding with definite transition zone was relied upon for diagnosis. Full thickness rectal dissection was done starting from 0.5-1 cm above the dentate line. The mobilized colon was resected about 5 cm or more above the transition zone. Full thickness colo-anal anastomosis was then performed. Results: There were 21 male and 3 female patients and the ages of the patients ranged from 4 days to 3 years. The mean length of the resected colon was 19.54± 9.85 cm. The anatomical transition zone correlated with the pathological transition zone in all the cases. The mean follow up period was 8.28±3.9 months. Two patients had post-operative enterocolitis, and one patient had stricture of the anastomosis. Two patients expired during the follow up period, one due to sepsis and the other due to community acquired pneumonia. One patient continued to have occasional fecal soiling and one patient developed perianal fistula for which diverting colostomy was done. Two patients had ongoing occasional constipation. None of the patients had voiding disturbances or incontinence. Conclusion: Primary transanal Swenson’s pull through is a safe and viable alternative technique for patients with rectosigmoid HD. The procedure is feasible even in neonates and in upper sigmoid colon HD.

Association of rs2435357 and rs1800858 polymorphisms in ret proto-oncogene with hirschsprung disease: systematic review and meta-analysis / Associação dos polimorfismos rs2435357 e rs1800858 no proto-oncogene ret com doença de hirschsprung: revisão sistemática e metanálise

ABSTRACT Introduction: Many published studies have estimated the association of rs2435357 and rs1800858 polymorphisms in the proto-oncogene rearranged during transfection (RET) gene with Hirschsprung disease (HSCR) risk. However, the results remain inconsistent and controversial. Aim: To perform a meta-analysis get a more accurate estimation of the association of rs2435357 and rs1800858 polymorphisms in the RET proto-oncogene with HSCR risk. Methods: The eligible literatures were searched by PubMed, Google Scholar, EMBASE, and Chinese National Knowledge Infrastructure (CNKI) up to June 30, 2018. Summary odds ratios (ORs) and 95% confidence intervals (CIs) were used to evaluate the susceptibility to HSCR. Results: A total of 20 studies, including ten (1,136 cases 2,420 controls) for rs2435357 and ten (917 cases 1,159 controls) for rs1800858 were included. The overall results indicated that the rs2435357 (allele model: OR=0.230, 95% CI 0.178-0.298, p=0.001; homozygote model: OR=0.079, 95% CI 0.048-0.130, p=0.001; heterozygote model: OR=0.149, 95% CI 0.048-0.130, p=0.001; dominant model: OR=0.132, 95% CI 0.098-0.179, p=0.001; and recessive model: OR=0.239, 95% CI 0.161-0.353, p=0.001) and rs1800858 (allele model: OR=5.594, 95% CI 3.653-8.877, p=0.001; homozygote model: OR=8.453, 95% CI 3.783-18.890, p=0.001; dominant model: OR=3.469, 95% CI 1.881-6.396, p=0.001; and recessive model: OR=6.120, 95% CI 3.608-10.381, p=0.001) polymorphisms were associated with the increased risk of HSCR in overall. Conclusions: The results suggest that the rs2435357 and rs1800858 polymorphisms in the RET proto-oncogene might be associated with HSCR risk.

RESUMO Introdução: Muitos estudos publicados estimaram a associação dos polimorfismos rs2435357 e rs1800858 do proto-oncogene rearranjado durante a transfecção (RET) com o risco de doença por Hirschsprung (HSCR). No entanto, os resultados permanecem inconsistentes e controversos. Objetivo: Realizar metanálise para obter estimativa mais precisa da associação dos polimorfismos rs2435357 e rs1800858 no proto-oncogene RET com risco de HSCR. Método: A literatura elegível foi pesquisada pelo PubMed, Google Scholar, EMBASE e CNKI até 30 de junho de 2018. Resultados: Um total de 20 estudos, incluindo dez (1.136 casos 2.420 controles) para rs2435357 e dez (917 casos 1.159 controles) para rs1800858 foram incluídos. Os resultados globais indicaram que o rs2435357 (modelo alelo: OR=0,230, IC 95% 0,178-0,298, p=0,001; modelo homozigoto: OR=0,079, IC 95% 0,048-0,130, p=0,001; modelo heterozigoto: OR=0,149 , IC 95% 0,048-0,130, p=0,001, modelo dominante: OR=0,132, IC 95% 0,098-0,179, p=0,001 e modelo recessivo: OR=0,239, IC 95% 0,161-0,353, p=0,001) e rs1800858 (modelo alelo: OR=5,594, IC 95% 3,653-8,877, p=0,001; modelo homozigoto: OR=8,453, IC 95% 3,783-18,890, p=0,001; modelo dominante: OR=3,469, IC 95% 1,881- 6,396, p=0,001 e modelo recessivo: OR=6,120, 95% CI 3,608-10,381, p=0,001) polimorfismos foram associados com o aumento do risco de HSCR em geral. Conclusões: Os resultados sugerem que os polimorfismos rs2435357 e rs1800858 no proto-oncogene RET podem estar associados ao HSCR.

Differential diagnosis and treatment of intestinal perforation caused by neonatal necrotizing enterocolitis and Hirschsprung′s disease / 中华实用儿科临床杂志

Objective@#To retrospectively analyze the differential diagnosis and treatment strategy of neonatal intestinal perforation caused by neonatal necrotizing enterocolitis (NEC) and Hirschsprung′s disease (HD).@*Methods@#The clinical data of 42 cases with NEC and 22 cases with HD combined with intestinal perforation from Ja-nuary 2012 to January 2017 admitted at Fujian Provincial Maternity and Children′s Hospital were collected, the proportion of premature infants, and the proportion of low birth weight infants, age of onset, preoperative clinical symptoms and surgical treatment was compared between the two groups.@*Results@#The proportion of premature infants[95.23%(40/42 cases) vs.27.27%(6/22 cases)], the proportion of low birth weight infant[90.48%(38/42 cases) vs.45.45%(10/22 cases)]and the age of onset [(14.48± 10.51) d vs.(3.18±3.43) d]were statistically different between the NEC group and the HD group, and the differences were statistically significant(all P<0.05). There were significant differences in the presence of normal defecation before the operation[71.4% (30/42 cases)vs.27.3%(6/22 cases)], and in the the defecation characteristics at the onset[95.2% (40/42 cases)vs.9.1%(2/22 cases)]between the NEC group and HD group(all P<0.05). Among 42 cases of NEC patients, 8 cases underwent intestinal anastomosis, and 34 cases underwent enterostomy because of the high risk of anastomosis.All of 22 patients with HD underwent double-lumen enterostomy.@*Conclusions@#The general conditions, preoperative manifestations and intraoperative fin-dings of the children should be comprehensively analyzed for identification.Enterostomy is recommended for NEC intestinal perforation, but if the risk of anastomosis is high, then fistula should be performed.Double-lumen fistula should be recommended for HD intestinal perforation, and enterostomy should be recommended if the two cannot be clearly distinguished.

Diagnosis and treatment of ten patients with adult Hirschsprung disease / 中国医师进修杂志

Objective To investigate the diagnosis and treatment of adult Hirschsprung disease. Methods The clinical data of 10 patients with adult Hirschsprung disease from August 2011 to August 2017 in the Department of General Surgery of the First Affiliated Hospital of Soochow University were retrospectively analyzed. Results Among the 10 patients, 4 cases were male, and 6 cases were female, with age 21 to 65 years old, and body mass index 16.77 to 25.73 kg/m2. The patients were diagnosed with Hirschsprung disease by postoperative pathological examination. All patients had difficult defecation medical history. Barium enema examination in 3 patients before operation showed obvious narrow segment, migrating segment and dilatation segment. Four cases received emergency surgical operation, and 6 cases received selective surgical operation. Complications included intestinal obstruction in 3 cases, incisions infection in 2 cases, and incision rupture in 1 case. Conclusions Adult Hirschsprung disease is difficult to be diagnosed, and the aspect of medical history, barium enema examination, surgical findings and pathological examination has to be combined. The surgery way of AHD is diverse and ought to be individual. Laparoscopic surgery with small trauma and quick recovery has great development space.