High-Resolution Anorectal Manometry as a Screening Tool for Hirschsprung's Disease: A Comprehensive Retrospective Analysis.

Hirschsprung's disease (HD) is characterized by a congenital absence of enteric ganglion cells in the intestine, posing challenges in diagnosis, particularly in pediatric patients. The gold standard, rectal suction biopsy (RSB), carries risks, prompting an exploration of non-invasive alternatives such as high-resolution anorectal manometry (HR-ARM) for HD screening. We conducted a retrospective analysis of 136 patients suspected of HD between 2018 and 2022, which were stratified into three age groups: ≤12 months, ≤24 months, and >24 months. Criteria for suspicion included delayed meconium passage, unresponsive chronic constipation, and abnormal prior test results. HR-ARM, supplemented by additional tests, confirmed 16 HD cases. HR-ARM exhibited 93.75% sensitivity, 89.47% specificity, 99.03% negative predictive value (NPV), and 55.56% positive predictive value (PPV). Notably, HR-ARM consistently performed well in patients ≤ 2 years old but demonstrated reduced efficacy in older children, which was likely due to complications from chronic constipation. This study underscores HR-ARM's promise as a non-invasive HD screening tool, especially in younger patients. However, its limitations in older children warrant consideration. Establishing standardized protocols, particularly for assessing the recto-anal inhibitory reflex, is crucial. Further research is imperative to optimize HR-ARM's diagnostic role across varied age groups in HD assessment.

Sacral neuromodulation for constipation and fecal incontinence in children and adolescents - study protocol of a prospective, randomized trial on the application of invasive vs. non-invasive technique.

BACKGROUND: A therapeutic effect of sacral neuromodulation (SNM) on fecal incontinence (FI) and quality of life has been proven in adults. SNM is, however, rarely used in pediatric cases. The aim of the study is to investigate effects of SNM in pediatric constipation in a prospective parallel-group trial. METHODS: A monocentric, randomized, unblinded, parallel-group trial is conducted. SNM is conducted in the invasive variant and in an innovative, external approach with adhesive electrodes (enteral neuromodulation, ENM). We include patients with constipation according to the ROME IV criteria and refractory to conventional options. Patients with functional constipation and Hirschsprung's disease are able to participate. Participants are allocated in a 1:1 ratio to either SNM or ENM group. Clinical data and quality of life is evaluated in regular check-ups. Neuromodulation is applied continuously for 3 months (end point of the study) with follow-up-points at 6 and 12 months. Findings are analyzed statistically considering a 5% significance level (p ≤ 0.05). Outcome variables are defined as change in (1) episodes of abdominal pain, (2) episodes of FI, (3) defecation frequency, (4) stool consistency. Improvement of proprioception, influence on urinary incontinence, quality of life and safety of treatment are assessed as secondary outcome variables. We expect a relevant improvement in both study groups. DISCUSSION: This is the first trial, evaluating effects of neuromodulation for constipation in children and adolescents and comparing effects of the invasive and non-invasive application (SNM vs. ENM). TRIAL REGISTRATION: The study is registered with clinicaltrials.gov, Identifier NCT04713085 (date of registration 01/14/2021).

Delayed presentation of congenital sigmoid colon stenosis: a rare entity.

Congenital sigmoid colon stenosis is a rare entity that can mimic Hirschsprung disease. Presentation of congenital colon stenosis is usually within first few weeks of life. Our case presented with features of distal bowel obstruction at 2 years of age with the history of chronic constipation and progressive abdominal distention from first week of life and bilious vomiting for the last 1 week. Clinical diagnosis of Hirschsprung disease was made. Contrast enhanced CT abdomen showed bowel obstruction with transition point at the level of proximal sigmoid colon. There was a short segment stenosis at the level of proximal sigmoid colon. Contrast enema showed stenosis at proximal sigmoid colon. The bowel distal to stenosis was normal in calibre. Similar findings were seen during surgery. Mesocolon was present in stenosed segment of the bowel. The resected stenotic segment showed adequate ganglion cells in histopathology.

Diagnostic accuracy of barium enema versus full-thickness rectal biopsy in children with clinically suspected Hirschsprung's disease: A comparative cross-sectional study.

Background and Aims: Hirschsprung's disease (HSD) remains a common cause of pediatric intestinal obstruction. Barium contrast enema (BE) is the primary imaging modality for the evaluation of clinically suspected cases. Here, we aimed to assess the diagnostic accuracy of BE in children with clinically suspected HSD when compared to a gold standard full-thickness rectal biopsy (FTRB). Methods: We recruited and consecutively enrolled children with clinically suspected HSD at two tertiary teaching hospitals. Participants underwent BE imaging and two radiologists interpreted the findings independently. Participants further underwent FTRB by pediatric surgeons as the confirmatory test. Sensitivity, specificity, positive predictive value (PPV), negative predictive value (NPV), and receiver operating characteristics (ROC) with the area under the curve (AUC) were calculated on Stata version 14.2, taking FTRB as the standard. Results: We enrolled 55 cases, of which 49 completed the evaluation and were included in the final analysis. The median age was 9.4 months (interquartile range: 2-24], with a male-to-female ratio of 4.4:1. The sensitivity, specificity, PPV, and NPV of BE were 0.95 (95% confidence interval [CI] [0.81-0.99]), 0.73 (95% CI [0.39-0.94]), 0.92 (95% CI [0.82-0.97]), and 0.80 (95% CI [0.50-0.94]), respectively. On AUC, the diagnostic accuracy of BE compared to the confirmatory FTRB was 0.84 (95% CI [0.69-0.98]). The diagnostic accuracy was higher in neonates (ROC: 1.00) when compared to infants (ROC: 0.83) or those above 1 year of age (ROC: 0.798). HSD-suggestive BE findings were associated with absence of ganglion cells on FTRB (χ 2 = 23.301, p < 0.001). Inverted rectosigmoid ratio and transition zone were more sensitive in detecting HSD of 0.92 (95% CI [0.74-0.98]) and 0.81 (95% CI [0.63-0.92]), respectively. Conclusion: BE is sufficiently accurate in the diagnosis of children with HSD, suggesting BE would likely be used to inform surgical management in settings where confirmatory biopsy is lacking. However, clinical judgment is warranted in interpreting negative BE findings.

Late Diagnosis of Hirschsprung Disease: Clinical Presentation and Long-Term Functional Outcomes.

PURPOSE: Hirschsprung Disease (HD) is typically diagnosed in the neonatal period. A small subset of patients have a prolonged course of abdominal distention and constipation prior to diagnosis. Late HD is defined as having been diagnosed at greater than or equal to one year of age. The literature is limited and offers conflicting data on the implications of a late diagnosis. We aim to investigate the presentation, operative approach, and functional outcomes of a large cohort of patients with a late HD diagnosis. METHODS: All patients with a late diagnosis of HD (after 1 year of age) at our institution between 1997 and 2021 were included. RESULTS: Twenty-eight patients were diagnosed with HD at a median age of 3.4 years. Chronic constipation, failure to thrive, and enterocolitis occurred in 100 %, 31 %, and 14 %, respectively. All patients underwent contrast enema and biopsies during their workup, identifying primarily rectosigmoid disease (n = 27) and total colonic aganglionosis (n = 1). Surgical intervention was performed in 27 patients, with 4 patients (15 %) needing a stoma (3 with plan for staged pull-through, 1 long-term stoma) and 23 patients (85 %) undergoing a single-stage pull-through. Postoperative complications included Hirschsprung-associated enterocolitis (n = 5), ostomy prolapse and revision (n = 2), abdominal distention requiring ileostomy creation (n = 2), redo pull-through (n = 2), retroperitoneal hematoma (n = 1), and cecostomy tube placement (n = 1). At a median follow-up of 5.4 years, 83 % of eligible patients achieved fecal continence with 43 % needing laxatives for persistent constipation. CONCLUSION: Recognizing a late presentation of HD requires a high index of suspicion. Patients with a late diagnosis did not experience an increased rate of permanent stoma, complications, or redo surgery compared to rates reported for the larger HD population. Similar long-term functional outcomes were achieved compared to the larger HD population. LEVEL OF EVIDENCE: IV.

A qualitative study on the caregiver burden experience in home reflux enema management of infants with congenital megacolon.

OBJECTIVE: This study aims to explore the caregiver burden experience in the care of infants with congenital megacolon undergoing home reflux enema. The findings will provide a basis for developing targeted and effective nursing interventions. METHODS: A phenomenological research approach was employed. From October 2022 to January 2023, semi-structured in-depth interviews were conducted with 12 caregivers of infants with congenital megacolon undergoing home reflux enema in a tertiary paediatric hospital in Fujian Province. The collected data were analysed and organized using the Colaizzi's 7-step analysis method, leading to the identification of key themes. RESULTS: The analysis yielded three major themes concerning the caregiver burden experience in the care of infants with congenital megacolon undergoing home reflux enema: inadequate disease-related knowledge, presence of multiple pressures during the caregiving process, and a desire for greater support. CONCLUSIONS: This study employed qualitative interviews with the caregivers of 12 children with congenital Hirschsprung's disease undergoing home reflux enema, and the feelings of caregivers of children with reflux enema at home after discharge were deeply understood. It is recommended to implement positive psychological interventions based on the PERMA model and incorporate "Internet + collaborative nursing" to provide caregivers with professional knowledge, address their pressures and needs, and promote their well-being while enhancing nursing abilities.

Preoperative management comprising tube irrigation using a trans-anal indwelling tube for infants with hirschsprung disease can allow single-stage radical surgery.

BACKGROUND: Preoperative management of Hirschsprung's disease (HD) is currently being conducted with the goal of performing single-stage radical surgery without ileostomy. METHODS: We retrospectively reviewed HD cases between 2013 and 2022, as well as their outcomes related to preoperative management. RESULTS: Thirty-nine patients with HD were included in this study, including short-segment HD (30 cases), long-segment HD (4 cases), and total colonic aganglionosis (5 cases). Among these 39 patients, 95% (37 of 39 patients) underwent single-stage radical surgery after management with glycerin enema use (n = 13), irrigation with tube insertion each time irrigation was performed (n = 13), and irrigation using a tube placed in the bowel (n = 11). CONCLUSIONS: Preoperative management of patients with HD allowed for single-stage surgery of long-segment HD and total colonic aganglionosis. Cases that could be managed without performing an emergency enterostomy during the neonatal period were managed with irrigation until radical surgery was performed.

State of the Art Bowel Management for Pediatric Colorectal Problems: Hirschsprung Disease.

After an initial pull-though, patients with Hirschsprung disease (HD) can present with obstructive symptoms, Hirschsprung-associated enterocolitis (HAEC), failure to thrive, or fecal soiling. This current review focuses on algorithms for evaluation and treatment in children with HD as a part of a manuscript series on updates in bowel management. In constipated patients, anatomic causes of obstruction should be excluded. Once anatomy is confirmed to be normal, laxatives, fiber, osmotic laxatives, or mechanical management can be utilized. Botulinum toxin injections are performed in all patients with HD before age five because of the nonrelaxing sphincters that they learn to overcome with increased age. Children with a patulous anus due to iatrogenic damage of the anal sphincters are offered sphincter reconstruction. Hypermotility is managed with antidiarrheals and small-volume enemas. Family education is crucial for the early detection of HAEC and for performing at-home rectal irrigations.

Adult Hirschsprung's disease presenting as chronic constipation: a case report.

BACKGROUND: Hirschsprung's disease is a congenital disorder identified by the absence of ganglion cells at the Meissner's plexus of the submucosa and Auerbach's plexus of the muscularis. This disease can be found in approximately 1 in 5000 live births. It is a congenital disorder that is rarely diagnosed in adults, where 95% of cases are diagnosed in infants aged under 1 year old. Here we present a rare case of adult Hirschsprung's disease to enrich the body of knowledge  in diagnosing adult patients with chronic refractory constipation symptoms. CASE REPORT: An 18-year-old Indonesian woman came to the general surgery department of Unggul Karsa Medika Teaching Hospital with a defecating problem (constipation) since childhood. There was no history of her passage of meconium. A contrast enema study showed that the sigmoid colon was dilated and the rectum was narrowed, with rectosigmoid index < 1. With these findings, it was suspected that the patient may have ultra-short segment Hirschsprung's disease. The patient was then referred to the digestive surgery department of referral hospital for surgical treatment. CONCLUSION: In adult patients presenting with history of constipation since childhood, it is necessary to consider the possibility of Hirschsprung's disease that was not diagnosed in early childhood. Hirschsprung's disease in adults is usually a short or ultra-short aganglionic segment because it shows relatively mild symptoms. Surgical removal of the aganglionic segment of the gut is the definitive treatment for Hirschsprung's disease.

Anorectal malformation combined with Hirschsprung's disease: a case report.

Anorectal malformation (ARM) and Hirschsprungs disease (HSCR) are frequently associated with other congenital malformations, but rarely with one another. We describe the case of a child with intermediate anorectal malformation who underwent ARM correction. This child experienced recurrent postoperative symptoms, including intestinal obstruction, nutrition intolerance, and weight loss. The child was diagnosed with Hirschsprung's disease by colon barium contrast and pathological findings from a rectal biopsy, and subsequently underwent pull -through procedure after conservative treatment failed. After six months of postoperative follow-up, the patient still experiences occasional episodes of enteritis, but the symptoms are substantially less severe than they were before surgery, and the patient's weight is slowly increasing. We described a case of a child who had ARM combined with HSCR. Although the association between ARM and HSCR is uncommon, severe constipation or enteritis following complete correction of ARM in the absence of anal stricture should prompt consideration for HSCR. Before the second stage of ARM surgery, pay close attention to the barium enema examination, as an abnormal shape may indicate the presence of HSCR.

Rare presentation and retrograde diagnosis of total colonic aganglionosis in a female infant: a case report.

BACKGROUND: Total colonic aganglionosis is an extremely rare variant of Hirschsprung's disease, which is predominant in males and can be seen in 1:50,000 live births. The presented case not only depicts a rare case, but also unusual clinical, laboratory, and instrumental data. CASE PRESENTATION: A 2-day-old Caucasian female newborn was transferred to our hospital from maternity. The initial presentation was reverse peristalsis, abdominal distention, and inability to pass stool. Fever had started before the patient was transferred. Hirschsprung's disease was suspected, and tests such as contrast enema and rectal suction biopsy were done. Before enterostomy, the management of the disease included fluid resuscitation, colonic irrigation, antibiotic administration, enteral feeding, and supportive therapy. During ileostomy operation, no transition zone was visualized and full-thickness biopsy samples were retrieved from the rectum and descending colon. After surgical intervention, status significantly improved-defervescence and weight gain most importantly improved. CONCLUSION: It is well known that diagnosis of total colonic aganglionosis may be delayed for months or even years since the transition zone may not be visible and rectal suction biopsy, unlike full-thickness biopsy, is not always reliable. It might be more prudent not to be derailed because of negative radiography and rectal suction biopsy. Also, doctors should be more suspicious of the disease if signs and symptoms are starting to be consistent with Hirschsprung-associated enterocolitis, despite biopsy and radiology results.

Functional outcome of Hirschsprung's disease in children: A single center study at The Children's Hospital Lahore.

AIM: Hirschsprung's disease (HD) is a congenital bowel disorder resulting in functional dysmotility. Advancement in surgical techniques has improved outcomes, but recent studies have identified problems having significant impact on patient's quality of life. The aim of this study is to analyze postoperative functional outcome after definitive surgery for Hirschsprung's disease. METHOD: A retrospective study was conducted at the Department of Pediatric Surgery, The Children's Hospital Lahore. The record of 64 patients was reviewed from the year 2009 to 2019. Parents were interviewed on phone calls and a predesigned questionnaire was filled. Degree of constipation, incontinence and voluntary bowel movements was analyzed according to Krickenbeck classification. RESULTS: Median age at initial presentation was 11 days, with male to female ratio of 3.9:1. Most common presentation was delayed passage of meconium (38%). Diagnosis was made on biopsy in 70.3%, but contrast enema and biopsy in 29.7%. Aganglionosis was limited to short segment in 81.3% and long segment in 14.5%. Decompressing enterostomy was made in 63% at a mean age of 191 days. Definitive surgery included Duhamel pull-through in 89.1%. Mean age at follow-up was 10.6 ± 4.19 years and alive patients were 95.4%. Postoperative enterocolitis was reported by 27%, while 35.5% reported fecal incontinence and 16.1% complained of constipation. 80% could voluntarily hold bowel movement, among which 5% had a feeling of urge and 15% had the capacity to verbalize. In 25% of the patients, fecal incontinence was a constant social problem and in 25% of these patients constipation was resistant to diet and laxatives. CONCLUSION: On long-term follow-up, fecal incontinence was more worrisome, affecting quality of life and requiring help of the bowel management program. Such patients need close follow-up after definitive procedure, so that they have normal stooling habits in their adulthood and lead a normal life.

A case of Hirschsprung's disease with segmental dilatation of the colon.

BACKGROUND: Segmental dilatation of the colon (SDC) is a rare disease that is characterized by an abrupt segment of dilated colon between regions of normal-sized colon. We herein report a case of SDC associated with Hirschsprung's disease (HD). CASE PRESENTATION: The patient developed abdominal distension soon after birth, and enema examination showed localized intestinal dilatation from the descending colon to the sigmoid colon with significant caliber changes on both the oral and anal sides of the dilated colon. The findings of the rectal mucosal biopsy were consistent with HD. We considered this case to be a combination of HD and SDC and performed laparoscopic-assisted Soave pull-through with resection of the dilated colon when the patient was 7 months old. Resected specimens showed steep caliber changes on the oral and anal sides of the dilated colon. In the pathological examination, no ganglion cells were found in the submucosa on the anal side of the dilated colon. Based on the above findings, we finally made the diagnosis of HD with SDC. CONCLUSION: In HD with a characteristic dilated colon, the possibility of SDC should be considered.

Noninvasive Sacral Neuromodulation in Children and Adolescents: A Case-Control Study of Patients With Chronic Refractory Constipation.

OBJECTIVES: In adult patients with chronic refractory constipation, invasive sacral neuromodulation (SNM) has been applied successfully. There is a need for less invasive solutions while providing comparable therapeutic effects in children and adolescents. We present a prospective, interventional case-control study on the application of noninvasive SNM. MATERIALS AND METHODS: Patients with chronic constipation refractory to conservative treatment were prospectively included in the study from 2018 to 2021 and randomized to either SNM (SNM group: single current stimulation for 24 h/d, frequency 15 Hz, pulse width 210 µs, intensity 1-10 mA) or conventional treatment (controls: full range of pharmacologic and nonpharmacologic options). Treatment was conducted for 12 weeks. Treatment effects were collected with specialized questionnaires and quality-of-life analysis (KINDLR). Outcome variables were defecation frequency, stool consistency, fecal incontinence (FI) episodes, and abdominal pain. RESULTS: Analysis was conducted in 28 patients with SNM and 31 controls (median age 7.0, range 3-16 years). Overall responsiveness to treatment was 86% of the SNM group and 39% of the control group (p < 0.001). All outcome variables were positively influenced by SNM treatment. Defecation frequency improved in 46% of patients with SNM and in 19% of controls (p = 0.026), as did stool consistency in 57% of patients with SNM and in 26% of controls (p = 0.014). Fecal incontinence was significantly reduced in 76% of patients with SNM (n = 16/21 vs 42% of controls [n = 11/26], p = 0.042). Quality of life improved significantly during SNM treatment (71.32 [baseline] vs 85.00 [after 12 weeks], p < 0.001) and confirmed a positive influence of SNM treatment compared with the control group (85.00 [SNM after 12 weeks] vs 79.29 [controls after 12 weeks], p = 0.047). CONCLUSIONS: Outcome of noninvasive SNM treatment in patients with chronic refractory constipation is better than conventional treatment.

Determining the Correct Resection Level in Patients with Hirschsprung Disease Using Contrast Enema and Full Thickness Biopsies: Can the Diagnostic Accuracy be Improved by Examining Submucosal Nerve Fiber Thickness?

BACKGROUND: Intraoperative resection level in patients with Hirschsprung disease (HD) is determined by contrast enema, surgeon's intraoperative judgement and full thickness biopsy (FTB) identifying ganglia. This study aims to evaluate diagnostic accuracy of contrast enema and FTB in determination of resection level and whether this can be improved by measuring submucosal nerve fiber diameter. METHODS: We retrospectively analyzed contrast enema and intraoperative FTBs obtained in our center, determining diagnostic accuracy for level of resection. Gold standard was pathological examination of resection specimen. Secondly, we matched transition zone pull-through (TZPT) patients with non-TZPT patients, based on age and length of resected bowel, to blindly compare nerve fibers diameters between two groups using group comparison. RESULTS: From 2000-2021, 209 patients underwent HD surgery of whom 180 patients (138 males; median age at surgery: 13 weeks) with 18 TZPTs (10%) were included. Positive predictive value of contrast enema was 65.1%. No caliber change was found in patients with total colon aganglionosis (TCA). Negative predictive value of surgeon's intraoperative judgement and FTB in determining resection level was 79.0% and 90.0% (91.2% single-stage, 84.4% two-stage surgery) respectively. Mean nerve fiber diameter in TZPT was 25.01 µm (SD= 5.63) and in non-TZPT 24.35 µm (SD= 6.75) (p = 0.813). CONCLUSION: Determination of resection level with combination of contrast enema, surgeon's intraoperative judgement and FTB results in sufficient diagnostic accuracy in patients with HD. If no caliber change is seen with contrast enema, TCA should be considered. Resection level or transition zone cannot be determined by assessment of submucosal nerve fiber diameter in FTB. TYPE OF STUDY: clinical research paper.

Outcome of Santulli enterostomy in patients with immaturity of ganglia: single institutional experience from a case series.

BACKGROUND: Immaturity of ganglia (IG) is an extremely rare disease and always requires surgical intervention in the neonatal period, but without guidelines to choose the ideal enterostomy procedure, the timing of stoma closure remains controversial. The aim of this study was to report our experience using Santulli enterostomy for the treatment of nine infants diagnosed with IG. METHODS: Patients who underwent Santulli enterostomy and were diagnosed with IG in our center between 2016 and 2021 were retrospectively studied. Temporary stoma occlusion and a 24-h delayed film of barium enema (BE) were performed to evaluate intestinal peristalsis function to determine the timing of stoma closure. The demographic data, clinical and radiological findings, stoma occlusion and stoma closure results were explored. RESULTS: A total of 9 infants underwent Santulli enterostomy and were diagnosed with IG postoperatively. Their median gestational age at birth was 36 weeks (range 31-42), and their median birth weight was 2765 g (range 1300-3400). All patients had symptom onset in the neonatal period, including abdominal distension and biliary vomiting. Eight patients showed obvious small bowel dilatation in the plain films, except for one patient's films that suggested gastrointestinal perforation with free gas downstream of the diaphragm. BE was performed in 6 patients, all of which had microcolons. The median age at operation was 3 days (range 1-23). Seven patients had an obvious transitional zone (TZ) during laparotomy, and the position of the TZ was 25-100 cm proximal above the ileocecal (IC) valve. Immature ganglion cells were present in the colon in 7 patients and the terminal ileum in 6 patients. The median age of successful stoma occlusion was 5 M (range 2-17) and 8 M (range 4-22) at ostomy closure. There was little or no barium residue in the 24-h delayed film of BE before stoma closure, and all patients were free of constipation symptoms during the follow-up. CONCLUSION: Santulli enterostomy appears to be a suitable and efficient procedure for IG, combined with temporary stoma occlusion and 24-h delayed film of BE to evaluate the recovery of intestinal peristalsis function.

The utility of the 24-h delayed film of barium enema for detecting the dysganglionic bowel segment in Hirschsprung's disease.

Background: Preoperative evaluation of the dysganglionic bowel segment is critical for establishing the optimal resection strategy for Hirschsprung's disease (HSCR), which facilitates patient outcomes. Objective: We set out to determine the utility of the 24-h delayed film of barium retention in predicting the length of dysganglionic bowel segment in HSCR. Materials and methods: A retrospective study of patients with clinically suspicious HSCR who underwent a preoperative 24-h delayed film of barium enema and were surgically treated from January 2015 to December 2019 was conducted. Results: Two hundred and 58 patients were enrolled in this study. The sensitivity, specificity, positive and negative predictive values (NPVs) of the 24-h delayed film of barium enema to predict the neuropathological segment were 89.1, 91.5, 91.3, and 89.4%, respectively. The Youden index was 80.6%, with a kappa value of 0.806 (P < 0.001). The correlation rate between barium retention level and pathological results was 72.7% (16/22) when aganglionosis was restricted within the mid-distal rectum (short-segment type), increasing to 92.0% (46/50) and 93.5% (174/186) for patients that had aganglionosis extended beyond the mid-distal rectum (classical type) and sigmoid colon (long-segment type), respectively. Lastly, patients younger than 3 months showed a lower correlation rate (72.2%) compared to patients aged 3-12 months (91.0%) and > 12 months (92.6%). Conclusions: Our investigation of the 24-h delayed film of barium enema performed for patients suspected of having HSCR indicated that the barium retention level remains crucial in predicting dysganglionic bowel segment, which contributes to the decision-making for surgical physicians.

Contrast Enema: Solving Diagnostic Dilemmas in Neonates With Lower Intestinal Obstruction.

Background Anatomical abnormalities leading to bowel movement failure are the major cause of intestinal obstruction. This study was done to assess the diagnostic efficacy of contrast enema in neonates with lower intestinal obstruction. Methodology This prospective study was conducted in The Children's Hospital and University of Child Health Sciences, Lahore from February 2021 to July 2021. Patients presenting with constipation, abdominal distension, vomiting, and unable to pass meconium, evaluated clinically and by X-rays, were included in the study. Patients with lower intestinal obstruction (i.e., meconium ileus, Hirschsprung's disease, ileal atresia, meconium plug syndrome, and small left colon) were given contrast enema (gastrografin) after hydration. The radiologist was blinded by the clinical diagnosis or reference standard diagnosis, which was labeled prior to image interpretation. Sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV) were calculated for major contrast enema diagnosis. Results During this period, a total of 34 patients were included in the study. The mean age of presentation was 72.0 ± 24 hours. There were 21 (61.8%) boys and 13 (38.2%) girls, representing a male to female ratio of 1.7:1. In four cases, our diagnosis on the basis of contrast enema was proven wrong. Sensitivity, specificity, PPV, and NPV of Hirschsprung's disease were found to be 93.3%, 50%, 87.5%, and 66.7%, while these were 84.6%, 66.7%, 91.7%, and 50.0%, respectively, for meconium ileus. Conclusion The diagnostic efficacy of contrast enema was found to be good in neonates with lower intestinal obstruction. The spectrum of intestinal obstruction among neonates shows diversity while contrast enema seems to play a major role in the identification and remodeling of the diagnostic plan in a major proportion of cases.

CURRENT APPROACHES TO DIAGNOSIS AND TREATMENT OF HIRSCHSPRUNG DISEASE IN NEWBORNS AND INFANTS (LITERATURE REVIEW AND FIRST-HAND EXPERIENCE).

OBJECTIVE: The aim: To analyze the current state of the issue of Hirschsprung disease in newborns and infants on the basis of literature data and first-hand experience. CONCLUSION: Conclusions: 1. Hirschsprung disease should be suspected in all newborns with late meconium passage. 2. The main methods of diagnosing Hirschsprung disease in newborns and infants are the assessment of anamnestic data, clinical manifestations and features of the clinical course of the pathology, contrast enema, morphological examination of rectal biopsies and immunohistochemistry for ACE. 3. The presence of enterocolitis in newborns and infants should raise suspicion of Hirschsprung disease. 4. Low intestinal obstruction, perforation of the cecum, ascending or terminal small intestine, and peritonitis in the first days of a child's life may be complications of Hirschsprung disease. 5. In newborns and infants, early diagnosis of Hirschsprung disease and timely surgical correction by one-stage surgery help improve treatment outcomes.

Hirschsprung disease managed with one-stage transanal endorectal pullthrough in a low-resource setting without frozen section.

BACKGROUND: Over the past few decades, surgery for Hirschsprung's disease (HD) has evolved into a minimally invasive, single-stage procedure with excellent outcomes. Intraoperative frozen section biopsy is critical for this procedure to avoid the potential risk of leaving a retained aganglionic segment. However, this facility is not available in most low-income countries. Therefore, a two-stage procedure with an initial colostomy is still practiced in the developing world. We aimed to evaluate the outcome of single-stage transanal pullthrough performed in a facility without frozen section biopsy. METHODS: A retrospective review of all patients who underwent transanal pullthrough in two teaching hospitals over a 6-year period (2015-2020). RESULTS: Forty-seven children underwent transanal endorectal pullthrough (TERPT). Age at surgery ranged from 2 months to 6 years and mean weight was 8.7 kg. Barium enema did not show transition zone in 6 patients (12.8%) while others demonstrated short segment HD. Intraoperatively, the transition zone was visualized in 40 patients (85%). TERPT alone was performed in 35 (74.5%), TERPT with laparotomy to visualize transition zone in 9 (26.7%) and TERPT with transabdominal mobilization was required in 3 (6.4%). Definitive histopathologic examination revealed aganglionic segment pullthrough in 4 (8.5%) and transitional zone pullthrough in another 4 (8.5%). However, with long term follow up all eight children remained asymptomatic and no intervention was required. CONCLUSIONS: Transanal pullthrough offers reduced number of surgeries and faster recovery. We have also observed a good functional outcome despite a discrepancy with pathology results. Overall, our data suggests it is a safe and viable option for the treatment of short segment HD in facilities where frozen section is not available.