BackgroundIntestinal dysfunction is prevalent in children with Mowat–Wilson syndrome (MWS), yet its underlying mechanisms remain unclear. This study aimed to characterize intestinal symptoms, feeding patterns, and fasting plasma neurotransmitter profiles in patients with MWS, and to explore their potential relationships.MethodsThree complementary assessments were conducted, including a questionnaire assessing defecation difficulties and stool characteristics; a structured questionnaire assessing feeding difficulties, caregiver-reported dietary composition (including the proportion of meat), and complementary feeding practices; and targeted fasting plasma neurotransmitter profiling using UPLC–TQ–MS.ResultsAmong 35 patients with MWS, 86% had intestinal symptoms, including constipation (69%) and Hirschsprung disease (17%). In the feeding/diet analysis, 44.4% (4/9) of patients with MWS reported feeding difficulties. Compared with age-matched healthy controls (n = 10), patients with MWS (n = 9) had a significantly lower proportion of meat and delayed introduction of meat-based complementary foods (10.5 months vs. 7.9 months). In the plasma analysis, patients with MWS (n = 6) exhibited significantly reduced plasma levels of serotonin and taurine, alongside elevated levels of GABA and dopamine, compared with age-matched healthy controls (n = 10).ConclusionThese findings confirm the high prevalence of constipation-predominant intestinal dysfunction in patients with MWS. Collectively, our findings support further investigation of associations among feeding difficulties, a lower proportion of meat in dietary composition, and an altered fasting plasma neurotransmitter profile (including lower serotonin in a small subset), which may be relevant to gut dysmotility in patients with MWS. This diet–neurotransmitter axis offers a working model for understanding intestinal dysfunction in patients with MWS, yet direct quantification of dietary and circulating tryptophan in future studies is needed to validate this pathway.

To evaluate the feasibility of near-infrared II (NIR-II) fluorescence imaging for intraoperative assessment of vascular morphology and inflammatory severity at the planned anastomotic site in children with Hirschsprung’s disease (HD). Seventeen children with HD underwent intraoperative indocyanine green fluorescence angiography during pull-through surgery. Capillary phantom experiments were performed to compare near-infrared I (NIR-I) and NIR-II imaging. Signal-to-background ratio (SBR), vessel delineation, and the association between fluorescence findings and histopathologic inflammatory grade were analyzed. Postoperative outcomes were explored in patients with complete follow-up. NIR-II imaging provided clearer visualization of arteries, veins, and deeper microvasculature than NIR-I, with a significantly higher SBR. NIR-II SBR was associated with histopathologic inflammatory grade, and an SBR < 1.17 was associated with severe mucosal inflammation. Long-term follow-up was available for 10 patients (40–66 months). Patients with less favorable postoperative outcomes showed numerically lower NIR-II SBR values, but these differences were not statistically significant. NIR-II fluorescence imaging improves intraoperative vascular visualization and shows promise for assessing inflammatory severity in HD. Its association with postoperative outcomes remains exploratory and requires validation in larger prospective studies.

Children undergoing Hirschsprung’s disease (HD) surgery are at risk of postoperative transfusion, which may cause complications and increase resource use. Current decisions are often empirical and lack individualized prediction tools. We retrospectively analyzed 889 pediatric patients who underwent HD corrective surgery at a tertiary center (2015–2025). Postoperative transfusion was defined as ≥ 0.5 units of packed red blood cells within 72 h after surgery. Forty-seven preoperative variables were collected; least absolute shrinkage and selection operator (LASSO) regression identified key predictors. Seven machine learning models, including support vector machine (SVM), were developed and evaluated by AUC, sensitivity, specificity, calibration, and decision curve analysis (DCA). Model interpretability was assessed using SHAP analysis. Of 889 patients, 155 (17.4

Hirschsprung disease (HSCR) is a common congenital disorder of intestinal dysmotility in newborns, often resulting in malnutrition and potentially life-threatening complications. Accurate and timely diagnosis is critical for improving clinical outcomes. Masson’s trichrome staining is utilized in Hirschsprung disease to assess muscular hypertrophy and fibrosis in aganglionic intestinal segments. However, this technique requires tissue sectioning and staining, limiting its applicability for in situ detection. Additionally, the indirect measurement can be influenced by structural variability within the tissue, potentially confounding the results. In this study, we propose an acoustic radiation force optical coherence elastography (ARF-OCE) technique to quantitatively assess the elasticity of intestinal tissue in HSCR. For the first time, we quantitatively measured the elasticity of the mucosal and muscular layers in different colonic segments—including the proximal, distal, transitional, and aganglionic regions—in human patients with HSCR. Following an ARF pulse that induced localized vibration within the HSCR tissue, phase-sensitive optical coherence tomography (OCT) was used to track the resulting micron-scale axial displacements over time. The resonance frequency of the vibration was then measured to quantitatively determine equivalent Young's modulus. This technique demonstrates strong potential for future clinical translation as an in-situ, section-free quantitative assessment tool for HSCR. Ultimately, it holds promise for assisting in disease evaluation and guiding surgical resection boundaries in gastrointestinal disorders.

Day surgery is an important part of the comprehensive reform of public hospitals, which is conducive to improving hospital management level, enhancing medical service efficiency, and controlling medical expenses. The National Health Commission has included tonsillectomy and/or adenoidectomy in the recommended list of daytime surgeries. However, there is no unified understanding and clinical practice of tonsillar and/or adenoid day surgery in China. Currently, there is an urgent need to develop clinical practice guidelines for tonsillar and/or adenoid day surgery to standardize the procedure. To this end, the guideline expert group developed this guideline through literature review and two rounds of Delphi voting, selecting and focusing on the clinical key issues in tonsillar and/or adenoid day surgery, in order to provide specific and feasible guidance for otolaryngologists, anesthesiologists, nursing staff, and related medical staff engaging in pediatric tonsillar and adenoid day surgery, and promote standardized management of tonsillar and/or adenoid day surgery.

To summarize our experience with high-pressure distal colostogram (HPC) in diagnosing male anorectal malformations (ARMs) after colostomy. A retrospective analysis was conducted on 103 male patients with anorectal malformations admitted to our hospital from January 2020 to June 2022. All children were found to have anal atresia after birth, with no obvious fistula in the perineum. A colostomy was performed 1–3 days after birth due to a suspected rectourethral fistula. A high-pressure distal colostogram was conducted on 98 patients who met the criteria and were included in this study. There were 68 cases of transverse colostomy, 13 cases of descending colostomy, and 17 cases of sigmoid colostomy. The average age is 3.60 ± 1.56(1.20–8.67) months. The type of anorectal malformation was confirmed during subsequent anorectoplasty. 74 (75.5

Background Mowat-Wilson Syndrome (MWS) is a rare autosomal dominant genetic disorder. Approximately half of individuals with MWS present with Hirschsprung’s Disease (HSCR). There is no nested case-control study that correlates with its prognosis. This study aimed to compare the mid-to-short-term postoperative prognosis between children with MWS-associated with HSCR and those with isolated HSCR. Methods A retrospective analysis was conducted on clinical data of HSCR patients who underwent surgery at a pediatric hospital from January 2016 to June 2023. Patients with MWS-associated HSCR were identified through confirmed mutations in the ZEB2 gene. Propensity score matching (PSM) was used for comparative analysis. Results Among the identified cases, 11 had MWS-associated HSCR, and 1,088 had isolated HSCR, with 44 HSCR-alone patients included in the control group after PSM. The case group comprised 7 males and 4 females, with a median age of 4 years and a median age at surgery of 3.96 months (IQR, 2.04-8.52). The study found no significant difference in the incidence of postoperative Hirschsprung-associated enterocolitis (HAEC) between the two groups, although severe abdominal distension symptoms were more prevalent in the case group. However, the median period of recurrent HAEC from the first to the last occurrence in the case group was longer at 18 months (IQR, 3-30) compared to 0 months (IQR, 0-6) in the control group. Additionally, the case group exhibited a higher rate of constipation and significantly poorer bowel function compared to the control group. Other mid-to-short-term complication rates were comparable between the two groups. Conclusions Children with MWS-associated HSCR face greater challenges in postoperative recovery, including a longer period of recurrent HAEC, more severe constipation, and poorer bowel function, highlighting the need for focused prevention and enhanced intestinal management in this patient population.

Background Hirschsprung’s disease (HSCR) is a functional obstruction of the gastrointestinal tract characterized by abdominal distension, constipation, and vomiting. The protein zonulin serves as a biomarker for intestinal permeability. We sought to explore the changes in plasma zonulin levels in patients with HSCR and to assess its predictive role in the development of postoperative Hirschsprung-associated enterocolitis (HAEC).Methods There are 60 patients with HSCR were recruited for this study, categorized into short-segment disease (S-HSCR) (n=33), long-segment disease (L-HSCR) (n=15), and total colonic aganglionosis (TCA) (n=12). Venous blood samples were taken from all participants before and after pull-through surgery. Plasma concentrations of zonulin were determined using an ELISA. Immunohistochemistry (IHC) analysis was conducted to evaluate the expression of zonula occludens-1 (ZO-1) and occludin in colonic tissues. Hematoxylin and Eosin stained (H&E-stained) sections were used to evaluate the degree of inflammation in the dilated (ganglionic) segment. Postoperative outcomes were assessed through a combination of online questionnaires and telephone interviews. Diagnostic threshold for HAEC was based on clinical symptom sets and the HAEC scoring system developed previously.Results Preoperative zonulin levels in patients with TCA were statistically lower than those in patients with S-HSCR (p=0.008) and L-HSCR (p=0.028). The incidence of postoperative HAEC was 16.7%, 57.1%, and 14.3% in TCA, L-HSCR, and S-HSCR groups, respectively. Patients who experienced an increase in plasma zonulin levels of more than 1.5 times those on the first day after surgery had a higher risk of developing HAEC (p=0.005). IHC staining further confirmed decreased expression of ZO-1 and occludin in colonic tissues of patients with HSCR who experienced postoperative HAEC.Conclusion Preoperative zonulin levels were lowest in the TCA group. The change in zonulin levels on the first day after surgery can serve as a useful indicator for predicting the risk of postoperative HAEC occurrence.

Postoperative complications at the coloanal anastomosis site following surgery for Hirschsprung disease (HSCR) can significantly impact bowel function recovery in children. Indocyanine green (ICG) fluorescence imaging provides a real-time, quantitative assessment of perfusion, potentially improving surgical outcomes. This study aims to evaluate the effectiveness of an ICG-based quantitative perfusion analysis strategy compared to conventional visual assessment in determining anastomotic site selection. This single-center retrospective study included consecutive patients with histologically confirmed HSCR who underwent surgery between January 2023 and January 2024. Following vascular arcade ligation and transanal pull-through, anastomotic site selection was guided either by conventional visual assessment (Visual Group) or ICG fluorescence angiography with quantitative perfusion analysis (ICG Group). We chose the specific ICG perfusion parameters (Fmax > 30 AU, Tmax < 30 s) as safe anastomotic site thresholds. Postoperative complications, functional outcome and perianal ultrasound findings were assessed during follow-up. A total of 167 patients were included, with 34 in the ICG Group and 133 in the Visual Group. Both groups had comparable baseline characteristics. While no significant differences were observed in postoperative bowel movement recovery or major anastomotic complications, perianal ultrasound at 5–7 days postoperatively revealed significantly reduced anastomotic inflammation in the ICG Group. Follow-up analysis showed that the ICG Group had a shorter hospital stay (7 days, IQR 7–8 vs. 8 days, IQR 7–10.5, p = 0.003), as well as a higher percentage of HAEC-free patients (78.1

Mowat‒Wilson syndrome (MWS), a rare genetic disorder caused by heterozygous loss-of-function mutations in ZEB2, is characterised by significant growth retardation with unclear mechanisms. In this study, we developed a Zeb2 haploinsufficient (Zeb2+/-) mouse model that recapitulates key features of MWS, including reduced body weight, impaired intestinal development and skeletal hypoplasia. RNA sequencing revealed significant downregulation of nutrient digestion and absorption pathways in the duodenum of Zeb2+/- mice, which was associated with reduced body fat and bone mass loss. Additionally, Zeb2+/- mice presented severe gut microbiota dysbiosis, as indicated by the depletion of beneficial Actinobacteria and Bifidobacterium and increases in the abundances of the proinflammatory Proteobacteria and Rikenella. These microbial shifts correlated with impaired intestinal development and key growth indicators. Our findings delineate a pathological cascade wherein Zeb2 haploinsufficiency disrupts nutrient absorption and bone homeostasis, while concomitant dysbiosis likely exacerbates intestinal dysfunction, collectively driving growth retardation. The model we developed can provide a platform for exploring therapeutic interventions targeting nutritional support and microbiome modulation in MWS.

To summarize the case data of reoperations related to the Roux-en-Y jejunal limb following hepaticojejunostomy for choledochal cysts at our center, aiming to provide insights into the prevention of adverse events. A retrospective analysis was conducted on five cases from April 2019 to October 2024 at our center, in which reoperations were required due to errors in the Roux-en-Y jejunal limb following hepaticojejunostomy for choledochal cysts. Among the patients, four were female, and one was male. Three cases presented with recurrent cholangitis and intestinal dilatation, while two cases involved Roux-en-Y jejunal limb necrosis and bile leakage. All patients underwent laparotomy for exploration. Surgical outcomes, operation times, and treatment approaches were summarized, and the duration of hospitalization and postoperative outcomes were also analyzed. In three cases with recurrent cholangitis, intraoperative exploration revealed a misconnection in the Roux-en-Y anastomosis, due to the formation of a jejunal limb from the elevated proximal jejunum. Corrective Roux-en-Y hepaticojejunostomy was then performed. Symptoms such as cholangitis and intestinal dilation were completely alleviated postoperatively. In two cases with bile leakage, necrotic jejunal limbs were resected, followed by corrective Roux-en-Y hepaticojejunostomy. After reoperation, the bile leakage was resolved, and infection indicators returned to normal. The average postoperative hospital stay was 10.5 ± 5.5 days (range: 5–21 days), with a median follow-up of 12 months (range: 2–53 months). Follow-up results indicated that the patients were in good general condition, with no abnormalities in liver function tests, and no elevation of infection markers detected during follow-up. Reoperations due to technical errors or necrosis in Roux-en-Y jejunal limbs are uncommon, the complications caused by the Roux-en-Y jejunal limbs can be very severe and even life-threatening. Early diagnosis and timely surgical intervention can effectively relieve symptoms and reduce patient suffering. Preventive measures should be prioritized since adherence to standard procedures can help prevent these complications.

Hirschsprung disease (HSCR) is a congenital condition characterized by the improper migration of enteric neural crest cells, leading to aganglionosis most commonly in the rectosigmoid colon. This severe and life-threatening disorder often results in the development of Hirschsprung-associated enterocolitis (HAEC), which can occur either before or after surgical resection of the affected bowel segment. Using colonic tissue from patients with HSCR alongside the well-established endothelin receptor B knockout mouse model, we investigated epithelial regeneration dynamics and stromal-epithelial cross-talk in the distal ganglionic colon, a critical site for HAEC development. In individuals with HSCR but without epithelial damage, the distal ganglionic colon displayed impaired epithelial regeneration and alteration of intestinal stem cell dynamics, characterized by the reduction of leucine-rich repeat-containing G protein-coupled receptor 5 (LGR5+) epithelial stem cells. This phenomenon was consistent in the mouse model, where impaired regenerative ability preceded HAEC when epithelial damage occurred on site. Patients with HSCR also exhibited remodeling in stromal cells in this distal ganglionic colon region, with fewer primary sources of Wingless-related integration site (Wnt) signal-releasing stromal cells and the exclusive presence of proinflammatory (matrix metalloproteinase 1+) stromal cells. Stromal cells from the HSCR distal ganglionic colon failed to sustain the growth of colonic organoids. However, ibuprofen suppressed the proinflammatory stromal cells, leading to effective restoration of epithelial organoid growth. These observations underscore the crucial role of impaired stromal-epithelial cross-talk in HSCR and the pathogenesis of HAEC and suggest potential therapeutic targets for the prevention or treatment of the condition.

Purpose Hirschsprung’s disease (HSCR) is a functional obstruction of the gastrointestinal tract characterized by the congenital absence of enteric ganglion cells. This condition leads to impaired intestinal barrier function in HSCR patients, which primarily manifests as abdominal distension, constipation, and vomiting. The protein zonulin serves as a biomarker for intestinal permeability. In this study, we aimed to explore the changes in plasma zonulin levels in patients with HSCR and to assess its predictive role in the development of postoperative Hirschsprung-associated enterocolitis (HAEC). Methods Sixty HSCR patients were recruited for this study, categorized into short-segment disease (S-HSCR) (n=33), long-segment disease (L-HSCR) (n=15), and total colonic aganglionosis (TCA) (n=12). Venous blood samples were taken from all participants before and after pull-through surgery. Plasma concentrations of zonulin were determined using an enzyme-linked immunosorbent assay (ELISA). HE-stained sections from 27 patients were used to evaluate the inflammation degree of the dilated (ganglionic) segment. Postoperative outcomes were assessed through a combination of online questionnaires and telephone interviews. The diagnostic threshold for HAEC was set based on clinical symptom definition and the HAEC scoring system developed previously. Results Preoperative zonulin levels in patients with TCA were significantly lower than those in patients with S-HSCR (p=0.008) and L-HSCR (p=0.028). The incidence of postoperative HAEC was 16.7%, 57.1%, and 14.3% in TCA, L-HSCR, and S-HSCR groups, respectively. Patients who experienced an increase of more than 1.5 times in plasma zonulin levels on the first day after surgery had a higher risk of developing HAEC (p=0.005). Conclusion Preoperative zonulin levels were lowest in the TCA group. The rate of change in zonulin levels on the first day after surgery can serve as a useful indicator for predicting the risk of postoperative HAEC occurrence.

ObjectiveThe aim of this study was to define controlled outcomes for bowel function and quality of life (QoL) after transanal rectal mucosectomy and partial internal anal sphincterectomy pull-through (TRM-PIAS, A modified Swenson procedure) for Hirschsprung disease (HD).BackgroundWe have previously shown that a novel modification of transanal rectal mucosectomy and partial internal anal sphincterectomy (TRM-PIAS, A modified procedure) for Hirschsprung disease have the advantage of low postoperative Hirschsprung associated enterocolitis. The controlled long-term follow-up studies evaluating Bowel Function Score (BFS) and Pediatric Quality of Life Inventory (PedsQoL, age <18 years) remain unclear.MethodsBetween Jan 2006 and Jan 2016, 243 Patients underwent TRM-PIAS older than 4 years were included, while experienced redo surgery because of complication were excluded. Patients were compared with age- and gender-matched 244 healthy children each randomly selected from the 405 general population. The enrollee was investigated for questionnaires on BFS and PedsQoL.ResultsOne hundred and ninety-nine (81.9%) patients' representatives for the entire study population responded. The mean age of patients was 84.4 months (48–214 months). Compared with controls, patients reported impairment of hold back defecation, fecal soiling, and the urge to defecate (P < 0.05), and no significantly different in fecal accidents, constipation and social problems. With advancing age, the total BFS of HD patients improved, with a tendency close to the normal level beyond 10 years old. But, after grouped according to presence or absence of HAEC, the non-HAEC group experienced more dramatic improvement with age increasing.ConclusionsCompared with matched peers, significant impairment of fecal control prevails after TRM-PIAS in HD patients, but bowel function improve with age and recovery faster than conventional procedure. It should be emphasized that post-enterocolitis is a high-risk factor for delayed recovery.

Due to the paucity of data and controversy regarding the etiology and surgical approach for managing anorectal prolapse (ARP) after anorectoplasty, we sought to investigate the underlying anatomic disorder and the surgical outcome in managing this challenging complication. We performed a retrospective study on 83 patients with ARP related to anorectal malformations (ARM). Logistic regression analyses were performed to detect the risk factors for the ARP severity. Surgical procedures were stratified according to identified anatomical abnormalities and surgical outcomes were analyzed. 50 patients (62.7%) had high-type ARM. The original anorectoplasty had a higher rate of ARP in laparoscopic-assisted anorectoplasty (n = 49, 59.0%) versus posterior sagittal anorectoplasty (n = 11, 13.3%). ARP was associated with rectal fat hyperplasia (67.5%), dilated muscular tunnel (79.5%), longitudinal muscle (LM) discontinuity (16.9%), rectal dilation (22.9%), mislocated anus (7.2%), and excessive mobile mesorectum (3.6%). Based on the ARP severity, the patients were divided into a severe group (Group 1, n = 38) and a moderate group (Group 2, n = 45). Binary logistic regression analysis showed that hyperplasia rectal fat (OR 4.55, 95% CI 1.16–17.84), rectal dilation (OR 4.21, 95% CI 1.05–16.94), and high-type ARM (OR 2.90, 95% CI 1.14–7.39) were independent risk factors for the development of severe ARP. Complications after stratified surgical repair included wound infection in six patients (7.2%), anal stenosis in one patient (1.2%), and ARP recurrence in two patients (2.4%). Twenty-six patients without colostomy before prolapse repair were followed up for 2 to 12 years. All the patients maintained voluntary bowel movements. Following ARP repair, there was an overall higher rate of no soiling or grade 1 soiling (88.5 vs. 65.4%), but 3 of 12 patients with grade 2 constipation were upgraded to grade 3. Our study shows that ARM-related anorectal prolapse is associated with excessive rectum, hyperplasia of rectal fat, mobile mesorectum, loose muscular tunnel, LM discontinuity, and anal mislocation. Surgical repair with techniques stratified according to the patients’ underlying risk factors is effective to prevent recurrence and improve the soiling continence.

Background: To report detailed knowledge about the clinical manifestations, genetic spectrum as well as physical, language, neurodevelopment features and genotype-phenotype correlations of Chinese patients with Mowat-Wilson syndrome (MWS).Methods: We retrospectively collected and analyzed clinical data for twenty-two patients with molecularly confirmed diagnoses. We used Gesell Developmental Schedules (GDS) to assess their neurodevelopment and the Diagnostic Receptive and Expressive Assessment of Mandarin-Infant & Toddler (DREAM-IT) to evaluate their language ability and compared the data with the two types of underlying pathogenic variations.Results: The height and weight of all patients were below the 75th percentile, and microcephaly was observed in 16 of 22 patients (72.7%). Four patients carrying chromosome deletions encompassing the ZEB2 gene were more severely affected. All MWS patients exhibited better performance in cognitive play and social communication than in receptive and expressive language. In the receptive language area, the types of words that children with MWS understood most were nouns, followed by adjectives and verbs.Conclusion: This study delineated the phenotypic spectrum of the largest MWS cohort in China and provided comprehensive profiling of their physical, language, neurodevelopment features and genotype-phenotype correlations.

Objective:This study was intended to evaluate LAARP management in ARM girls.Methods:From October 2017 to August 2020, 18 IRVF children aged (2. 9-6. 6) months underwent LAARP for rectal mobilization, visualization and enlargement of central sphincter muscle complex (SMC) from pelvic and perineal aspects, intra-fistulamucosectomy and rectal pull-through in SMC with fourchette and perineal body unattached. During follow-ups, postoperative complications and defecatory function were evaluated.Results:LARRP was performed without any conversion into open procedure. One case of rectal prolapse required surgical correction. Bowel function was evaluated in 15 children aged over 2. 5 years. There were voluntary bowel movement (n=14) ; no soiling or grade 1 soiling (n=12) , grade 2 soiling (n=2) and grade 3 soiling (n=1) ; 9 patients had no constipation or grade 1 constipation, grade 2 constipation (n=4) and grade 3 constipation (n=2). The parents were satisfied with wound appearance.Conclusion:As an alternative correction for IRVF with a decent visualization of SMC, LAARP may diminish the risks of wound dehiscence and vaginal injury.

Spleen tyrosine kinase (SYK) is a critical immune signaling molecule and therapeutic target. We identified damaging monoallelic SYK variants in six patients with immune deficiency, multi-organ inflammatory disease such as colitis, arthritis and dermatitis, and diffuse large B cell lymphomas. The SYK variants increased phosphorylation and enhanced downstream signaling, indicating gain of function. A knock-in (SYK-Ser544Tyr) mouse model of a patient variant (p.Ser550Tyr) recapitulated aspects of the human disease that could be partially treated with a SYK inhibitor or transplantation of bone marrow from wild-type mice. Our studies demonstrate that SYK gain-of-function variants result in a potentially treatable form of inflammatory disease. Individuals with SYK gain-of-function variants develop immunodeficiency and systemic inflammation, which are recapitulated in a knock-in mouse model. Treatment of these mice with bone marrow transplantation or with a SYK inhibitor ameliorates disease symptoms, highlighting potential therapeutic strategies for patients with SYK mutations.

Hirschsprung disease (HSCR) is a congenital disease that is characterized by the absence of intrinsic ganglion cells in the submucosal and myenteric plexuses of the distal colon and is the most common cause of congenital intestinal obstruction. Hirschsprung-associated enterocolitis (HAEC) is a life-threatening complication of HSCR, which can occur either before or after surgical resection of the aganglionic bowel. Even though HAEC is a leading cause of death in HSCR patients, its etiology and pathophysiology remain poorly understood. Various factors have been associated with HAEC, including the mucus barrier, microbiota, immune function, obstruction of the colon, and genetic variations. In this review, we examine our current mouse model of HAEC and how it informs our understanding of the disease. We also describe current emerging research that highlights the potential future of HAEC treatment.

Hirschsprung disease (HSCR) is a congenital disease that is characterized by the absence of intrinsic ganglion cells in the submucosal and myenteric plexuses of the distal colon and is the most common cause of congenital intestinal obstruction. Hirschsprung-associated enterocolitis (HAEC) is a life-threatening complication of HSCR, which can occur either before or after surgical resection of the aganglionic bowel. Even though HAEC is a leading cause of death in HSCR patients, its etiology and pathophysiology remain poorly understood. Various factors have been associated with HAEC, including the mucus barrier, microbiota, immune function, obstruction of the colon, and genetic variations. In this review, we examine our current mouse model of HAEC and how it informs our understanding of the disease. We also describe current emerging research that highlights the potential future of HAEC treatment.