Hirschsprung's Disease In Children Research Articles

Diagnostic Accuracy of Barium Enema for the Diagnosis of Hirsch-sprung Disease in Children

Objective: To determine the diagnostic accuracy of Barium contrast enema for diagnosis of Hirsch-sprung disease, taking histopathology as the gold standard.
 Study Design: Cross-sectional validation study.
 Place and Duration of Study: Department of Paediatric Surgery, Pak Emirates Military Hospital, Rawalpindi Pakistan, from Nov 2019 to May 2021.
 Methodology: A total of 251 patients with symptoms of Hirsch-sprung disease were included. All patients were assessed with a Barium enema and full-thickness rectal biopsy. Barium enema was reported for the presence of contrast in the rectum after 24 hours, the presence or absence of transitional zone and a Recto Sigmoid Index less than 1. Full-thickness rectal biopsy was taken 2 cm above the dentate line, and histopathology was performed to see the ganglion cells in Meissner`s and Myenteric plexus.
 Results: Histo-pathologically confirmed cases were 120(true positive), where 12(false positive) had no Hirsch-sprung disease on histopathology. In Barium enema negative patients, 113 were true negatives while 06 were false negatives. Overall sensitivity, specificity, positive predictive value, negative predictive value and diagnostic accuracy of Barium contrast enema for diagnosis of Hirsch-sprung disease were 95.24%, 90.40%, 90.91%, 94.96% and 92.83%, respectively.
 Conclusion: We concluded that the diagnostic accuracy of Barium contrast enema for diagnosis of Hirsch-sprung disease is quite high, taking histopathology as the gold standard.

A study on the role of matravasti in Hirschsprung disease in children

Hirschsprung disease (HSCR), or congenital intestinal aganglionosis, is a birth defect characterized by the complete absence of neuronal ganglion cells from a portion of the intestinal tract. Symptoms include constipation, bloating of the belly, and loss of energy and appetite. Diagnosis of the disease includes an abdominal x-ray which shows a bulge in the large intestine caused by stool, barium enema, anorectal manometry, or biopsy of the rectum. In Ayurveda, congenital diseases come under janmabala pravritta vyadhi. It leads to vitiation of the rasavaha, annavaha and malavaha srothas of the fetus, later leading to dusti of vata in pakwashaya and guda. The treatment involves normalization of Vata in the body using a protocol that pacifies the Vata, including Vasti. Considering the age of the patient, Matravasti was done using Sukumaraerandam and a few internal medicines for the mother. It consists of drugs that pacify Vata as well as those which improve digestion.

ЭПИДЕМИОЛОГИЧЕСКИЕ АСПЕКТЫ БОЛЕЗНИ ГИРШПРУНГА

Introduction. Hirschsprung's disease (HD) is a congenital malformation characterized by the absence of intramural ganglia in the intestinal wall. Frequent complications of Hirschsprung's disease and other disorders of intestinal motility are problems of late or erroneous diagnosis, and sometimes to a greater extent than complications of surgical techniques when performing surgical interventions [1,2]. Aim. The lack of statistical data characterizing the incidence of HD on the territory of the Republic of Belarus became the reason for conducting an epidemiological study based on the annual statistical reports of the Republican Scientific and Practical Center for Pediatric Surgery. Materials and methods. A descriptive epidemiological study of the incidence of Hirschsprung's disease on the territory of the Republic of Belarus was carried out on the basis of data from the surgical departments of the Republican Scientific and Practical Center for Pediatric Surgery for the period from 01.01.2010 to 31.12.2019 (10 years). Results. During the study period, 130 patients born in the period 2010 - 2019 were radically operated with different forms of BG. According to the data presented in Table 1, from 7 to 20 cases of HD were detected annually (13 (10 ÷ 17) cases / year according to the median), which was 11.90 (8.37 ÷ 14.34) cases per 100 thousand newborns. The incidence of HD ranged from 1 in 5889 to 1 in 15 432 population. No dependence of the number of HD cases per year on the birth rate was found. The incidence of HD in the Republic of Belarus averages 1: 9250. According to the literature, the incidence of HD in the world was 20.64 (18.05 ÷ 22.43) cases per 100,000 newborns, while in the Republic of Belarus for the period from 2010 to 2019 years the incidence was lower and amounted to 11.90 (8.37 ÷ 14.34) cases per 100,000 newborns. Conclusion. The incidence of HD in the Republic of Belarus averages 1: 9250, which is significantly less than in foreign countries according to the literature. The reasons for this are different, but, apparently, the main one is the insufficient alertness of pediatricians and pediatric surgeons in relation to HD and, accordingly, insufficient diagnostic coverage of pediatric patients with impaired colon function. Compliance with the principles of work of specialists on continuity in the work of specialists, starting from the neonatal period, the wary attitude of doctors towards HD will improve the diagnosis of HD in children.

Clinical Efficacy of an Indwelling Transanal Tube for the Prevention of Anastomotic Leakage After Hirschsprung's Disease: A Single Center Experience with Chinese Patients.

Background: The aim of this study was to investigate the clinical effectiveness of an indwelling transanal tube for the prevention of anastomotic leakage (AL) after a radical operation for Hirschsprung's disease (HD). Methods: We retrospectively analyzed the clinical data from 158 patients who had undergone laparoscopic-assisted Soave procedures for HD at our hospital from May 2015 to May 2019. Patients were divided into two groups depending upon whether the anal drainage tube was retained or not retained: an indwelling group (group A, n = 86) and a no-indwelling group (group B, n = 72). Results: All 158 children had a successful operation by a laparoscopic technique. There was no significant difference in the duration of the operation, the length of the incision, the amount of bleeding, or the postoperative hospitalization time between the two groups. Compared with the no-indwelling group, maintaining the transanal tube had significant advantages for preventing incidences of AL (P < .05). The 4-year follow-up showed that the incidence of postoperative enterocolitis with the indwelling transanal tube was significantly lower than in the group without the drainage tube (P < .05). Conclusions: The laparoscopic-assisted Soave procedure with an indwelling transanal tube is a safe and feasible method for the treatment of HD in children. This method can not only drain intestinal contents but also reduce the occurrence of AL.

ДИАГНОСТИКА БОЛЕЗНИ ГИРШПРУНГА У ДЕТЕЙ: МУЛЬТИЦЕНТРОВОЕ ИССЛЕДОВАНИЕ

Hirschsprung disease (HD) is a congenital absence of nerve cells (ganglions) in a segment of the intestinal wall, leading to its obstruction. Diagnosis of BG in children is a labor-intensive process, on which surgical treatment tactics depend. The concentration of patients in large surgical centers with equipped diagnostic departments makes it possible to develop the most adequate examination plan while minimizing the risk of diagnostic errors. The aim of the study was to analyze methods for diagnosis of HD in children; a retrospective analysis of the records of patients hospitalized in three medical organizations in Moscow (n=201) in 2017–2019 was carried out. The first group – children with confirmed diagnosis (n=152), the second group – patients with suspicion of BG with unsatisfactory results of previous operative treatment, postoperative complications (n=49). Results: in the 1st group, irrigography was performed before hospitalization in 118 patients (77,6%). In the hospitals, irrigography was performed (repeated) for 109 (71,7%) children. 25 (16,4%) patients showed discrepancies in interpretation of the results. Thus, irrigography was applied to all patients. Intestine biopsy before hospitalization was performed in 79 patients (52%), in the hospitals – performed/repeated in 50 patients (32,9%). There were discrepancies in the interpretation of histological findings in 8 patients (18,6 per cent). Thus, in the diagnosis of HD in children, biopsies were used (before hospitalization and/or during hospitalization) in 89 patients (58,6%). Anorectal manometry was performed to 3 (2%) children. In the 2nd group a histological examination was performed (before and during hospitalization) in 41 patients (84%), anorectal manometry – in 15 patients (31%), irrigography – in all children. Correlation analysis did not reveal any relationship between the HD variant and manifestation symptoms (Spearman's correlation coefficient was –0,232 at p&lt;0,05. Conclusion: all medical teams began examining children with suspected HD with irrigography. Various intestinal biopsies were performed in 58,6% of cases. Anorectal manometry is currently practically not used in the diagnosis of HD in children, although it is a promising non-invasive method with high sensitivity and specificity.

CHANGES IN MICROBIOTA AND PECULIARITIES OF THE USE OF PROBIOTICS FOR THE PREVENTION OF COMPLICATIONS OF THE SURGICAL TREATMENT OF HIRSCHSPRUNG DISEASE IN CHILDREN

In a review there are presented current data both on the formation of Hirschsprung disease (HD) in children and complications of its surgical treatment. The importance of interrelations of intestinal microbiota, agangliosis of the large intestine and the mechanisms of formation of HD-associated enterocolitis as a leading complication in the postoperative period are described. The value of the intestinal microbiota in its interaction with the immune system as a factor of pathogenesis and prevention of postoperative complications in HD patients is determined. Changes in the intestinal microbiota were shown to play a significant pathogenetic role in the appearance and progression of HD-associated enterocolitis in children. It is indicated that early manipulations with microbial intestinal communities through the use of probiotics can become the basis of a new strategy for the prevention of postoperative complications in HD. Modulation of the intestinal microbiota with antibiotics and probiotics can be a promising method of the management and prevention of complications of surgical treatment of HD in children.

Three-Dimensional Versus Two-Dimensional Laparoscopic-Assisted Transanal Pull-Through for Hirschsprung's Disease in Children: Preliminary Results of a Prospective Cohort Study in a Tertiary Hospital.

This prospective cohort study is aimed to compare the efficacy and safety of three-dimensional (3D) versus two-dimensional (2D) laparoscopy in laparoscopic-assisted transanal pull-through (LATP) for the surgical treatment of Hirschsprung's disease (HD) in children. This study enrolled 80 children who were histologically diagnosed with HD and undergone LATP performed by a single experienced surgeon at our department between January 2015 and November 2017. Children were randomized to receive 2D laparoscopy (n = 40) or 3D laparoscopy (n = 40). Data on patient characteristics, operative parameters, and the surgeon's assessment on utilization of laparoscopic system were prospectively recorded and analyzed. Patient characteristics, including age at surgery, gender, weight, and the level of aganglionosis, were comparable between the two groups (each P > .05). Compared with 2D imaging system, 3D system significantly shortened the performance time of laparoscopic phase (27.0 ± 3.6 minutes versus 38.3 ± 4.3 minutes, P < .001) with a 29.5% reduction, and the total time of the entire surgery (106.0 ± 19.5 minutes versus 122.1 ± 18.7 minutes, P < .001). No statistical difference was observed in terms of estimated intraoperative blood loss and intraoperative laparoscopic complications between the two groups (each P > .05). In addition, 3D system significantly improved depth perception and precision, and reduced surgical strain for the surgeon. 3D LATP is feasible and safe in the surgical treatment of HD in children. Further studies are still needed to investigate the application of 3D in both experienced and inexperienced surgeons.

The relationship of eosinophilia with outcomes of Hirschsprung disease in children.

It has been postulated that children with Hirschsprung disease (HD) and mucosal eosinophilia have been thought to have poorer outcome, but supporting evidence is lacking. The objective of our study was to review the outcomes of children with HD and mucosal eosinophilia. A single center, retrospective review was conducted on all patients diagnosed with HD between 1999 and 2016. Pathology specimens were evaluated for mucosal eosinophilia. Demographics, complications, and outcomes were analyzed. A total of 100 patients were diagnosed with HD and 27 had mucosal eosinophilia. Median age at the time of surgery was 12 days (8, 30) and 82 were males. Comparing patients with HD with and without mucosal eosinophilia, there was no statistically significant difference in time to bowel function (2days vs. 2days; p = 0.85), time to start feeds (3days vs. 3days; p = 0.78) and time to goal feeds (5days vs. 5days; p = 0.47). There was no statistically significant difference in feeding issues (13% vs. 9%; p = 1.0) and stooling issues (60% vs. 50%; p = 0.38). There was no statistically significant difference in postoperative complications and readmissions rates (63% vs. 56%; p = 0.53). Hirschsprung-associated mucosal eosinophilia may not increase postoperative complications, and may not change feeding and bowel management. Further prospective studies are in process to evaluate long term follow-up outcomes for this patient population.

Diagnosis of Hirschsprung's disease in children: Preliminary evaluation of a novel endoscopic technique for rectal biopsy.

Background and AimThe diagnosis of Hirschsprung's disease (HD) relies on anorectal manometry and rectal biopsy. The role of endoscopic biopsy is uncertain for the diagnosis of HD in children. In this study, we evaluated the adequacy of biopsies procured by endoscopic mucosal resection (EMR) for the diagnosis of HD.MethodsConsecutive children with suspected HD from January 2013 to January 2018 were enrolled in the study. EMR was performed using the standard band ligation device at a distance of about 3 cm from dentate line in rectum. All samples were assessed macroscopically and microscopically. An adequate sample was defined as those measuring >3 mm and including adequate submucosa.ResultsA total of 132 children underwent evaluation for constipation in the study period. Of these, 10 children (median age, 4.25 years) underwent EMR using the band ligation device for the evaluation of HD. EMR was performed with and without submucosal lifting injection in four and six children, respectively. All the samples were adequate macroscopically (>3 mm). Absence of ganglion cells was noted in six children. Of these, three children underwent full‐thickness rectal biopsy followed by surgery. Three children did not undergo surgery. Ganglion cells were identified in four children, thereby excluding the diagnosis of HD.ConclusionRectal biopsy using EMR with a band ligation device is feasible, safe, and provides adequate sample for the evaluation of HD in children.

Evaluation of suspicious Hirschsprung disease in children using radiologic investigation method: a prospective observational study

Background: Hirschsprung disease (HD) is a developmental disorder characterized by absence of ganglia in the distal colon, resulting in a functional obstruction. It is a common cause of pediatric intestinal obstruction. Objective of present study was to evaluate a checklist of radiologic and clinical signs to determine the probability of HD in suspicious patients.Methods: In a diagnostic accuracy study, 19 children with clinical manifestations of HD attended pediatric OPD in a tertiary care teaching hospital, Haldia from January 2014 to December 2016 were assessed. A checklist was used to evaluate the items proposed by contrast enema (CE), based on six subscales, including transitional zone, rectosigmoid index (RSI), irregular contractions in aganglionic region, cobblestone appearance, filling defect due to fecaloid materials and lack of meconium defecation during the first 48 hours after birth. The patients were classified as high score and low score. Sensitivity and specificity were calculated for identifying HD, in comparison with pathologically proved or ruled out HD.Results: Of the 19 patients, 11 (57.89%) cases had HD and 08 (42.11%) cases were without HD. The mean age was 2.793 ± 4.21 months. Abdominal distension, lack of meconium defecation, and constipation were the most common clinical symptoms with frequencies of 15 (78.9%), 11 (57.8%), and 14 (73.68%), respectively. In summary, the mean sensitivity of detecting the radiological signs of transition zone, spastic colon, reversed recto-sigmoid index and the overall impression in histological confirmed HD patients are 59.09%, 49.99%, 59.09% and 56.06% respectively.Conclusions: The mean specificity of detecting the absence of the radiological signs of transition zone, spastic colon, reversed recto-sigmoid index and the overall impression in histological confirmed non-HD patients are 68.75%, 81.25%, 87.5% and 79.17% respectively. This would in turn give an overall mean specificity rate of 79.17% in successfully excluding HD with the above mentioned radiological signs from the contrast enema.

Diagnostic accuracy of radiologic scoring system for evaluation of suspicious hirschsprung disease in children.

Background:In 1996, Donovan and colleagues represented a scoring system for better prediction of Hirschsprung disease (HD).Objectives:Our objective was to devise another scoring system that uses a checklist of radiologic and clinical signs to determine the probability of HD in suspicious patients.Patients and Methods:In a diagnostic accuracy study, 55 children with clinical manifestations of HD that referred to a training hospital from 1998 to 2011 were assessed. A checklist was used to evaluate the items proposed by contrast enema (CE), based on six subscales, including transitional zone, rectosigmoid index (RSI), irregular contractions in aganglionic region, cobblestone appearance, filling defect due to fecaloid materials and lack of meconium defecation during the first 48 hours after birth. The patients were classified as high score and low score. Sensitivity, specificity, positive predictive value and negative predictive value of our scoring system were calculated for identifying HD, in comparison with pathologically proved or ruled out HD.Results:Of the 55 patients, 36 (65.4%) cases had HD and 19 (34.6%) cases were without HD. In the HD group, 32 patients showed high scores and four patients had low scores. The sensitivity and specificity of our diagnostic scoring system were 88.9% (95% CI: 78.6% - 99.1%) and 84.2% (95% CI: 68.7% - 100%), respectively. Moreover, positive predictive value (PPV) and negative predictive value (NPV) were 91.4% (95% CI: 82.1% - 100%) and 80% (95% CI: 62.5% - 97.5%), respectively.Conclusions:Our new scoring system of CE is a useful diagnostic method in HD. If a patient’s score is high, that patient is highly suspicious to HD and reversely, when one’s score is low, the patient presents a reduced probability to be diagnosed with HD.

Hirschsprung disease presenting as sigmoid volvulus: a case report and review of the literature

While sigmoid volvulus is commonly seen in older patients, it is rarely encountered in children and younger adults. Consequently, heightened awareness of this entity is required to avoid a delay in diagnosis. Among the pediatric and adult cases of colonic volvulus previously reported in the English literature, 23 of the affected individuals have also been diagnosed with Hirschsprung disease (HD). This report describes a 12-year-old male with a history of chronic constipation who presented with vomiting and abdominal distension and was found to have sigmoid volvulus with previously unrecognized HD. The case presentation is followed by a review of the literature describing colonic volvulus secondary to HD in children.

Haddad syndrome presenting with abdominal distension associated with long-segment aganglionosis

Haddad syndrome is a form of neurocristopathy characterized by a combination of congenital central hypoventilation syndrome and Hirschsprung disease (HD). Although Haddad syndrome is extremely rare, awareness of the combination of long-segment HD in Haddad syndrome as well as radiographic manifestations may help to ensure a timely diagnosis as well as to facilitate optimal treatment of this unusual condition. We report a case of Haddad syndrome with long-segment, intestinal aganglionosis in a newborn infant. This report emphasizes the features of HD in children with Haddad syndrome and suggests that specific attention be given to its interpretation on plain radiographs.

Rectal Biopsies Obtained With Jumbo Biopsy Forceps in the Evaluation of Hirschsprung Disease

Refractory constipation is an extremely common problem in infants and children. The diagnostic suspicion of Hirschsprung disease often arises in this clinical setting. Diagnosing Hirschsprung disease can be difficult; however, excluding the diagnosis is much easier, only requiring the demonstration of ganglion cells in the distal rectum. The most common method for obtaining tissue from the rectum involves a blind suction biopsy. This technique has been complicated by serious adverse events, equipment malfunction, and inadequate specimens. Our goal was to evaluate the adequacy of specimens obtained with a flexible endoscope and jumbo biopsy forceps to rule out Hirschsprung disease in the child outside the newborn period. We retrospectively reviewed 668 rectal biopsies taken during 167 endoscopies on 156 patients being evaluated for Hirschsprung disease from 2001 to 2008 at the Baystate Medical Center Children's Hospital. Four biopsies were taken from each patient approximately 2.5 cm from the anal verge. Biopsies were obtained using a flexible endoscope and jumbo biopsy forceps. During the first 6 years the Olympus FB-50U-1 large cup fenestrated biopsy forceps was used. During the last 2 years the Boston Scientific Radial Jaw 4 Jumbo biopsy forceps was used instead. The Boston Scientific Radial Jaw 4 Jumbo biopsy forceps yielded adequate specimens 93% of the time, which surpassed most published results of other techniques. There were no complications reported. Obtaining rectal biopsies with a flexible endoscope and jumbo biopsy forceps is a safe and effective means to rule out the diagnosis of Hirschsprung disease in children.

Ten-year experience with the Swenson procedure in Nigerian children with Hirschsprung′s disease

Hirschsprung's disease (HD) is a common cause of intestinal obstruction in children. Definitive treatments consist of excision of the aganglionic segment and anastomosing the normal colon to the anal remnant. The outcome of this approach in Nigerian children is not known. The aim of this study was to analyze the short to mid-term outcome of children who have undergone the Swenson Procedure (SPT) as a treatment of HD over a period of 10 years. The clinical data of biopsy-proven cases of HD managed at the Obafemi Awolowo University Teaching Hospital, Ile-Ife, Nigeria, between 1998 and 2007 were reviewed. There were 33 children 28 were males and five were females (M 5.6: F = 1). The median age at presentation was eight months (range three days to 11 years). Eighteen (54.5%) patients had primary pull-through without colostomy while 15 (45.5%) patients had a two-staged operation. The operation was carried out at a median age of 14 months with a range of seven weeks to 11 years, four months. Twenty-one (64%) of the patients were older than one year at the time of surgery. The level of aganglionosis was in the recto-sigmoid area in 30 (91%) patients. The commonest post-SPT complication was intestinal obstruction from adhesions. Bowel opening varied from once daily to eight times daily, median thrice daily. The Swenson's Procedure is an effective procedure in the treatment of HD in children in Ile Ife, Nigeria.

Calretinin immunohistochemistry: a simple and efficient tool to diagnose Hirschsprung disease

Diagnosis of Hirschsprung disease (HD) is quite entirely based on the histopathological analysis of suction rectal biopsies. This hematoxylin and eosin approach has some limitations, despite the help of acetylcholinesterase staining. The aim of this study was to assess the diagnostic value of calretinin immunochemistry as a simple and reliable method in the diagnosis of HD. A total of 131 initial rectal biopsies carried out for suspicion of HD in children were retrieved, and calretinin immunohistochemistry was carried out on paraffin-embedded biopsies. Diagnosis of HD was made when no staining was observed. The results were statistically analyzed in comparison with our standard method (histology and acetylcholinesterase staining). 130 biopsies were accurately diagnosed on the basis of the positivity or negativity of calretinin staining. The senior pathologists diagnosed all cases of HD with no false positives. Furthermore, 12 additional cases initially considered as doubtful for HD using the standard method, were accurately diagnosed using calretinin immunohistochemistry. The false negative was a case of HD with a calretinin-positive biopsy. We also demonstrate the ease of calretinin interpretation compared with acetylcholinesterase for the junior pathologist. Calretinin immunohistochemistry overcomes most of the difficulties encountered using the combination of histology and acetylcholinesterase staining, and detects almost all cases of HD with confidence, with no false positives. Thus, we demonstrate that calretinin is superior to acetylcholinesterase to complete histology and could advantageously substitute for acetylcholinesterase.

Adult Hirschsprung's Disease Diagnosed During Forensic Autopsy

We report a case of fatal Hirschsprung's disease (HD) discovered at autopsy. A 20-year-old man collapsed at home. Emergency medical personnel found him in cardiac arrest and all resuscitative efforts failed. He had a past history of chronic constipation since infancy. Forensic autopsy revealed a megacolon full of gas and stools. Microscopic examination showed absence of ganglion cells in a short segment of the rectum and enterocolitis in the left and transverse colon. HD is rarely described in adults. In many cases, patients complained of constipation since infancy but the affection remained misdiagnosed. The relative good tolerance of the disease is usually due to a short aganglionic bowel segment. Enterocolitis is a frequent and severe complication of HD in children but is rarely described in adults. This case suggests the importance of HD diagnosis in childhood in order to avoid fatal complications with forensic consequences.

Modified Rehbein surgical procedure using a surgical staple--progress in the treatment of Hirschsprung disease in children

The particular advantage of using the intraluminal stapler in Rehbein's operation for Hirschsprung's disease is that we are able to achieve very low and safe anastomoses 2-3 cm above the anal verge. Use of the intraluminal stapler has successfully overcome the difficulties of a very low handsewn anastomoses in children. In this way the aganglionosic segment can be resected completely. In 16 infants we can demonstrate the safety and reliability of colorectal anastomoses using the smallest intraluminal circular stapler, 21 mm in diameter. Endoscopic and manometric investigations demonstrate no stenosis or stricture.