Incidence Of Hirschsprung's Disease Research Articles

Decisions in Diversion: Enterostomy vs. Primary Anastomosis for Colonic Atresia

BackgroundColonic atresia (CA) is associated with Hirschsprung disease (HD) in up to 10% of cases. Therefore, some surgeons elect to complete proximal diversion at the initial operation. We sought to better define the incidence of concurrent HD and evaluate practice patterns regarding diversion for CA. MethodsThe Pediatric Health Information System (PHIS) database was used to identify patients with CA from 2013 to 2022. Patients with small bowel atresia, anorectal malformation, gastroschisis, or first operation after 14 days of age were excluded. Index and subsequent operations were defined. Complications, time to enterostomy closure, and unplanned operations were evaluated. ResultsHD was diagnosed in 8 (9.5%) patients and 7 of these were initially diverted. Diverted and anastomosed patients were demographically similar. In the 58 (69%) patients initially diverted, 19 (33%) had an ileostomy. Continuity was restored with an ileo-colic anastomosis in 63% of diverted and 27% of primarily anastomosed patients. Of those initially managed with a colostomy, 53% ultimately had a colo-colonic anastomosis. Patients with primary anastomoses had fewer operations and received more days of parenteral nutrition. Other outcomes did not vary. ConclusionIn a large population of infants with CA, 9.5% had concurrent HD. Almost 70% of CA patients underwent initial diversion and only one with HD had a primary anastomosis. Patients managed with a primary anastomosis were substantially more likely to retain the proximal colonic segment, but had a similar incidence of complications. When intraoperative colonic biopsies are obtained, primary anastomosis is a safe and effective strategy for CA. Level of Evidence3.

The mediating role of metabolites between gut microbiome and Hirschsprung disease: a bidirectional two-step Mendelian randomization study.

Gut microbiome (GM) was observed to be associated with the incidence of Hirschsprung disease (HD). However, the effect and mechanism of GM in HD is still unclear. To investigate the relationship between GM and HD and the effect of metabolites as mediators, a bidirectional two-step Mendelian randomization (MR) study was conducted. The study selected instrument variables (IVs) from summary-level genome-wide association studies (GWAS). The MiBioGen consortium provided the GWAS data for GM, while the GWAS data for metabolites and HD were obtained from the GWAS Catalog consortium. Two-sample MR analyses were performed to estimate bidirectional correlations between IVs associated with GM and HD. Then, genetic variants related to 1,400 metabolite traits were selected for further mediation analyses using the Product method. This study found that seven genus bacteria had a significant causal relationship with the incidence of HD but not vice versa. 27 metabolite traits were significantly correlated with HD. After combining the significant results, three significant GM-metabolites-HD lines have been identified. In the Peptococcus-Stearoyl sphingomyelin (d18:1/18:0)-HD line, the Stearoyl sphingomyelin (d18:1/18:0) levels showed a mediation proportion of 14.5%, while in the Peptococcus-lysine-HD line, the lysine levels had a mediation proportion of 12.9%. Additionally, in the Roseburia-X-21733-HD line, the X-21733 levels played a mediation proportion of 23.5%. Our MR study indicates a protective effect of Peptococcus on HD risk that is partially mediated through serum levels of stearoyl sphingomyelin (d18:1/18:0) and lysine, and a risk effect of Roseburia on HD that is partially mediated by X-21733 levels. These findings could serve as novel biomarkers and therapeutic targets for HD.

Questioning the Correlation Between Incidence of Hirschsprung Disease And Indications for Rectal Biopsy.

Aim: To review the indications for rectal mucosal/submucosal biopsy (RMSBx) used for diagnosing Hirschsprung's disease (HD) in pediatric patients. Methods: The medical records of all children between 1 and 15 years old assessed for chronic constipation between 2012 and 2022 were reviewed. Until the end of 2018, enema usage (E+) was a major indication for RMSBx. In 2019, laxative use for 3 months irrespective of enema use was added as an indication (L+). To determine the relevance of enema usage, L+ was subdivided by enema usage into (L+E+) and (L+E-) groups. The effect of changing the indications for RMSBx on the incidence of HD was investigated. Results: Of 562 eligible subjects, E+ = 410, L+ = 152; demographics are similar. RMSBx rate in E+ (E+RMSBx) was 36/410 (8.8%) and in L+ (L+RMSBx) was 42/152 (27.6%;) (P < .05). For L+RMSBx, 15/42 were L+E+ and 27/42 were L+E-. HD incidence in E+RMSBx was 8/36 (22.2%; E+HD) and in L+RMSBx was 13/42 (31.0%; L+HD) (p = ns). In L+RMSBx, HD incidence in L+E+ was 5/15 (33.3%; L+E+HD) and in L+E- was 8/27 (29.6%; L+E-HD) (P = ns). Differences in daily bowel motion frequency 6 months postoperatively were not statistically significant; E+HD (1.75/d) versus L+HD (2.03/d) and L+E+HD (1.60/day) versus L+E-HD (2.31/day). Unassisted voluntary defecation was confirmed 12 months postoperatively in 7/8 (87.5%) E+HD, 11/13 (84.6%) L+HD, 4/5 (80.0%) L+E+HD, and 7/8 (87.5%) L-E-HD; differences were not significant. Laxatives were still required in 2/8 (25.0%) E+HD, 3/13 (23.1%) L+HD, in 1/5 (20.0%) in L+E+HD, and 2/8 (25.0%) L+E-HD; differences were not significant. Conclusion: Incidence of HD was higher in L+HD, but not significantly different suggesting that indications for RMSBx have potential to influence incidence of HD and hint that the incidence of HD could actually be higher. Further assessment of additional indications is warranted to diagnose HD with greater accuracy.

Risk factors for Hirschsprung disease-associated enterocolitis: a systematic review and meta-analysis.

The incidence of Hirschsprung disease (HSCR) is nearly 1/5000 and patients with HSCR are usually treated through surgical intervention. Hirschsprung disease-associated enterocolitis (HAEC) is a complication of HSCR with the highest morbidity and mortality in patients. The evidence on the risk factors for HAEC remains inconclusive to date. Four English databases and four Chinese databases were searched for relevant studies published until May 2022. The search retrieved 53 relevant studies. The retrieved studies were scored on the Newcastle-Ottawa Scale by three researchers. Revman 5.4 software was employed for data synthesis and analysis. Stata 16 software was employed for sensitivity analysis and bias analysis. A total of 53 articles were retrieved from the database search, which included 10012 cases of HSCR and 2310 cases of HAEC. The systematic analysis revealed anastomotic stenosis or fistula [ I2 =66%, risk ratio (RR)=1.90, 95% CI 1.34-2.68, P <0.001], preoperative enterocolitis ( I2 =55%, RR=2.07, 95% CI 1.71-2.51, P <0.001), preoperative malnutrition ( I2 =0%, RR=1.96, 95% CI 1.52-2.53, P <0.001), preoperative respiratory infection or pneumonia ( I2 =0%, RR=2.37, 95% CI 1.91-2.93, P <0.001), postoperative ileus ( I2 =17%, RR=2.41, 95% CI 2.02-2.87, P <0.001), length of ganglionless segment greater than 30cm ( I2 =0%, RR=3.64, 95% CI 2.43-5.48, P <0.001), preoperative hypoproteinemia ( I2 =0%, RR=1.91, 95% CI 1.44-2.54, P <0.001), and Down syndrome ( I2 =29%, RR=1.65, 95% CI 1.32-2.07, P <0.001) as the risk factors for postoperative HAEC. Short-segment HSCR ( I2 =46%, RR=0.62, 95% CI 0.54-0.71, P <0.001) and transanal operation ( I2 =78%, RR=0.56, 95% CI 0.33-0.96, P =0.03) were revealed as the protective factors against postoperative HAEC. Preoperative malnutrition ( I2 =35 % , RR=5.33, 95% CI 2.68-10.60, P <0.001), preoperative hypoproteinemia ( I2 =20%, RR=4.17, 95% CI 1.91-9.12, P <0.001), preoperative enterocolitis ( I2 =45%, RR=3.51, 95% CI 2.54-4.84, P <0.001), and preoperative respiratory infection or pneumonia ( I2 =0%, RR=7.20, 95% CI 4.00-12.94, P <0.001) were revealed as the risk factors for recurrent HAEC, while short-segment HSCR ( I2 =0%, RR=0.40, 95% CI 0.21-0.76, P =0.005) was revealed as a protective factor against recurrent HAEC. The present review delineated the multiple risk factors for HAEC, which could assist in preventing the development of HAEC.

Hirschsprung-Associated Enterocolitis at a Referral Institution: A Retrospective Review

BackgroundHirschsprung-associated enterocolitis (HAEC) is the most common cause of morbidity and mortality amongst patients with Hirschsprung disease (HD); rectal Botulinum toxin (Botox) has been reported a possible prevention strategy. We aimed to evaluate our institution's historic cohort of HD patients, first to determine our incidence of HAEC and second to begin assessing the effect of Botox on HAEC incidence. MethodsPatients with HD seen at our institution between 2005 and 2019 were reviewed. Incidence of HD and frequencies of HAEC and Botox injections were tallied. Associations between initial Botox treatment or transition zone and HAEC incidence were evaluated. ResultsWe reviewed 221 patients; 200 were included for analysis. One hundred thirteen (56.5%) patients underwent primary pull-through at a median age of 24 days (IQR 91). Eighty-seven (43.5%) patients with initial ostomy had their intestinal continuity reestablished at a median of 318 days (IQR 595). Ninety-four (49.5%) experienced at least one episode of HAEC and 62 (66%) experienced multiple episodes of HAEC. Nineteen (9.6%) patients had total colonic HD and had an increased total incidence of HAEC compared to patients without total colonic HD (89% vs 44%, p < 0.001). Six (2.9%) patients received Botox injections at the time of pull-through or ostomy takedown; one experienced an episode of HAEC (versus 50.7% of the patients who were confirmed to have not received Botox injections at their surgery, p = 0.102). ConclusionFurther prospective study on Botox's effect on Hirschsprung-associated enterocolitis is required and is the next step in our investigation. Level of evidenceLevel III.

Three Novel De Novo ZEB2 Variants Identified in Three Unrelated Chinese Patients With Mowat-Wilson Syndrome and A Systematic Review.

Background: ZEB2 gene mutations or deletions cause Mowat-Wilson syndrome (MWS), which is characterized by distinctive facial features, global developmental delay, intellectual disability, epilepsy, friendly and happy personalities, congenital heart disease, Hirschsprung disease and multiple congenital anomalies. Currently, more than 300 MWS patients have been described in the literature, and nearly 280 variants in ZEB2 have been identified. Methods: In this study, we report three unrelated Chinese patients presenting multiple congenital anomalies that were consistent with those of MWS. Whole-exome sequencing (WES) was used to identify the causative variants. Results: WES identified two novel de novo frameshift variants in ZEB2 (NM_014795.4:c.2136delC, p. Lys713Serfs*3 and c.2740delG, p. Gln914Argfs*16) in patients 1 and 2, respectively, and a novel de novo splicing variant in ZEB2 (NM_014795.4:c.808-2delA) in patient 3, all of which were confirmed by Sanger sequencing. Next, we systematically reviewed the clinical characteristics of Chinese and Caucasian MWS patients. We revealed a higher incidence of constipation in Chinese MWS patients compared to that previously reported in Caucasian cohorts, while the incidence of Hirschsprung disease and happy demeanor was lower in Chinese MWS patients and that epilepsy in Chinese MWS patients could be well-controlled compared to that in Caucasian MWS individuals. Conclusion: Our study expanded the mutation spectrum of ZEB2 and enriched our understanding of the clinical characteristics of MWS. Definitive genetic diagnosis is beneficial for the genetic counseling and clinical management of individuals with MWS.

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.

Hirschsprung's disease

Hirschsprung's disease (HD) is a congenital functional disorder characterized by the absence of ganglion cells in the enteric nervous system. The estimated incidence of HD is 1:5000 with up to 60% of patients having associated anomalies. Short-segment rectosigmoid disease is seen in 75% of cases with infants presenting with abdominal distension, bilious vomiting and delayed passage of meconium. A bedside rectal suction biopsy is the gold-standard in confirming the diagnosis of HD. The absence of ganglion cells in the myenteric and submucosal plexi in the presence of thickened hypertrophic nerves (more than 40 microns diameter) is diagnostic of HD. There are no medical options to treat HD, however rectal washouts can be used to bridge the gap to surgery. Contemporary management of this condition involves a single-stage pull-through that can be performed using various techniques including minimal access surgery. Long-term problems in with HD are common and these include obstructive symptoms (10–30%), constipation (10–15%), enterocolitis (10–15%) and true faecal incontinence (1–2%). Furthermore 20–30% of adults report symptoms of incontinence and constipation as well as poor sexual function. Future research is being focussed on novel gene therapies including stem-cell therapy and the use of CRISPR/CA9 to edit parts of the genome.

Hirschsprung disease and anorectal malformations — An uncommon association

BackgroundThe simultaneous occurrence of Hirschsprung disease (HD) and anorectal malformation (ARM) is extremely rare, with only a very limited amount of cases published in the literature.Constipation is a major problem in patients operated for ARM, and biopsies from the distal rectum in patients with ARM may not show ganglion cells owing to different reasons, leading to a false positive diagnosis of HD. A pull-through procedure for HD after previous anorectoplasty for ARM always leads to fecal incontinence.The aim of the present study was to assess the incidence of simultaneous diagnoses of ARM and HD in a single large cohort of ARM patients and to demonstrate that biopsies from the anal canal, which are negative for ganglion cells, may mislead to a diagnosis of HD. Materials and methodsA retrospective review of our database from 1980 to 2018 identified 164 patients with HD and 2397 patients with ARM. Four patients suffered from both HD and ARM. ResultsThe incidence of HD in ARM patients was 4/2397 = 0.17%, and the incidence of ARM in HD patients was 4/164 = 2.4%. ConclusionOur results strongly suggest that the association of ARM and HD is less common than previously reported. Type of studyTherapeutic Level of evidenceIV

Mowat-Wilson syndrome in a Chinese population: A case series.

Mowat-Wilson syndrome (MWS) is characterized clinically by a distinctive facial gestalt, intellectual disability, microcephaly, epilepsy, and nonobligatory congenital malformations such as Hirschsprung disease, urogenital anomalies, congenital heart disease, eye malformations. This article summarized the clinical features and molecular findings of 15 Chinese MWS patients. The results revealed a higher incidence of congenital heart disease in Chinese MWS patients compared to that previously reported in Caucasian cohorts, while the incidence of Hirschsprung disease and genitourinary malformation appeared to be lower. This suggests possible ethnicity-related modifying effects in the MWS phenotype.

Should we look for Hirschsprung disease in all children with meconium plug syndrome?

BackgroundMeconium plug syndrome (MPS) is associated with Hirschsprung disease (HD) in 13–38% of cases. This study sought to assess institutional variation in utilization of rectal biopsy in children with MPS and the likelihood of diagnosing HD in this population. MethodsPatients with MPS on contrast enema in the first 30 days of life from the Pediatric Health Information System database in 2016–2017 were included. Institutional rates of rectal biopsies performed during the initial admission were calculated and then used to predict institutional rates of early HD diagnoses using Poisson regression. ResultsOf 373 newborns with MPS, 106 (28.4%) underwent early rectal biopsy, of whom 43 (40.5%) had HD. Fifty-seven (15.3%) were ultimately diagnosed with HD. Eight (14%) of these patients had a delayed diagnosis. HD rates between institutions did not differ significantly (range 0–50%, p=0.52), but usage of early rectal biopsy did (range 0–80%, p=0.03). Each additional early biopsy increased the early HD diagnosis rate by 35% (β=0.30, 95% CI 0.15–0.45, p<0.0001). ConclusionThe incidence of HD is increased in children with MPS. There is significant hospital variability in the utilization of early rectal biopsy, and opportunity exists to standardize practice.Type of Study: Study of Diagnostic testLevel of Evidence: Level III

Epidemiology of Hirschsprung disease in California from 1995 to 2013.

This study seeks to update current epidemiology of Hirschsprung disease (HD) in California. Using data from the California Office of Statewide Health Planning and Development Linked Birth (1995-2012) and Patient Discharge Databases (1995-2013), patients from either dataset with an ICD-9 diagnosis code of HD (751.3) or procedure code of Soave (48.41), Duhamel (48.65), or Swenson/other pull-through (48.49) were included. Patients > age 18 during their first admission were excluded. Of 9.3million births, 2,464 patients were identified. Incidence was 2.2 cases/10,000 live births, with rates peaking at 2.9/10,000 births in 2002. Incidence was highest among African American (4.1/10,000) and Asian/Pacific Islander (2.5/10,000) births. Most were male (n = 1652, 67.1%). Sixty patients (2.4%) had Down syndrome. The median gestational age at birth was 38 weeks 6days (interquartile range [IQR] 37 weeks 1day-40 weeks 1day). Mortality during the first year of life was 1.7%. Median age at death was 14.5days (IQR 0-113days). This is one of the largest population-based studies of HD. In California, the incidence of HD is stable, risk is highest among African American children, and the mortality rate is < 2%.

Validation of algorithms to determine incidence of Hirschsprung disease in Ontario, Canada: a population-based study using health administrative data.

ObjectiveIncidence rates of Hirschsprung disease (HD) vary by geographical region, yet no recent population-based estimate exists for Canada. The objective of our study was to validate and use health administrative data from Ontario, Canada to describe trends in incidence of HD between 1991 and 2013.Study designTo identify children with HD we tested algorithms consisting of a combination of diagnostic, procedural, and intervention codes against the reference standard of abstracted clinical charts from a tertiary pediatric hospital. The algorithm with the highest positive predictive value (PPV) that could maintain high sensitivity was applied to health administrative data from April 31, 1991 to March 31, 2014 (fiscal years 1991–2013) to determine annual incidence. Temporal trends were evaluated using Poisson regression, controlling for sex as a covariate.ResultsThe selected algorithm was highly sensitive (93.5%) and specific (>99.9%) with excellent predictive abilities (PPV 89.6% and negative predictive value >99.9%). Using the algorithm, a total of 679 patients diagnosed with HD were identified in Ontario between 1991 and 2013. The overall incidence during this time was 2.05 per 10,000 live births (or 1 in 4,868 live births). The incidence did not change significantly over time (odds ratio 0.998, 95% confidence interval 0.983–1.013, p = 0.80).ConclusionOntario health administrative data can be used to accurately identify cases of HD and describe trends in incidence. There has not been a significant change in HD incidence over time in Ontario between 1991 and 2013.

Hirschsprung's disease in the UK and Ireland: incidence and anomalies

ObjectivesTo describe clinical characteristics and preoperative management of a national cohort of infants with Hirschsprung's disease (HD).DesignPopulation-based cohort study of all live-born infants with HD born in the UK and...

Epidemiology of Hirschsprung's Disease in Taiwanese Children: A 13-year Nationwide Population-based Study

Hirschsprung's disease (HD) is an important colon disease in children. The aim of this study is to describe the epidemiological features of HD in Taiwanese children. We conducted a study from the Taiwan National Health Insurance Research Database and analyzed cases who received surgical intervention between 1998 and 2010 due to HD (International Classification of Diseases, 9(th) Revision, Clinical Modification 751.3) or megacolon (International Classification of Diseases, 9(th) Revision, Clinical Modification 564.7). The incidence, sex ratio, age at the surgical intervention, associated complication, and medical expenditures were analyzed. There were a total of 629 HD cases, including 458 boys and 171 girls, with an overall incidence of 2.2 per 10,000 live births. The male-to-female incidence ratio was 2.38. There was no secular trend of incidence across the years. Seventy-two percent of cases received surgical treatment before the age of 1 year. The younger cases had higher operation-related medical expenditures. Those patients with preoperative enterocolitis (EC) had a higher possibility of postoperative EC than those patients without preoperative EC (34.6% vs. 24.3%, p=0.013). There were 169 (26.9%) HD cases with additional anomalies, the most common being gastrointestinal and circulatory system anomalies. Of these, 12 (1.9%) cases were Down syndrome. The incidence of HD in Taiwanese children, a majority Chinese population, was one per 4545 live births with a male predominance. Preoperative EC was a significant factor that was associated with postoperative EC. The percentage associated with Down syndrome was relatively low, probably due to a prenatal screening program.

Rectal suction biopsy for the diagnosis of Hirschsprung's disease: a systematic review of diagnostic accuracy and complications.

Rectal suction biopsy (RSB) combined with acetylcholinesterase (AChE) staining is currently the gold standard for the diagnosis of Hirschsprung's disease (HD). However, some pathologists are still reluctant to diagnose HD in RSBs as it requires thick submucosal tissue to confirm the absence of ganglion cells. Furthermore, insufficient specimens and adverse events have been reported. The objective of this study was to determine the diagnostic accuracy and incidence of complications of RSBs in patients suspected of HD based on a systematic review of the published literature. A literature-based search for relevant publications was conducted using multiple online databases. Staining for AChE/hematoxylin and eosin should have been used to evaluate RSBs. The number of true-positive, false-positive, true-negative and false-negative results was recorded and data on RSB-related complications was extracted. Pooled incidence rates and odds ratios (ORs) with 95% confidence intervals (CI) were calculated using standardized statistical methodology. Fifty-eight studies met defined inclusion criteria, reporting a total of 14,053 RSBs. The median cohort size consisted of 72 patients (range 1-766) with a median age of 14.4 months (range 1 day-66 years) at time of biopsy. In 89.93% (CI 89.11-90.70%), RSB provided adequate tissue for the diagnosis of HD. Insufficient specimens were obtained in 10.07% (CI 9.30-10.89%) and in 8.46 % (CI 7.55-9.46%) RSB was repeated. The incidence of HD was 19.13% (CI 18.25-20.03%). Mean sensitivity of RSB was 96.84% (CI 95.57-97.47%) and mean specificity was 99.42% (CI 99.17-99.57%). The overall complication rate was 0.65% (CI 0.46-0.91%) with persistent rectal bleeding requiring blood transfusion in 0.53% (CI 0.36-0.77%), bowel perforation in 0.06% (CI 0.02-0.18%) and pelvic sepsis in 0.06% (CI 0.02-0.18%). Complications were significantly more frequent in newborns and infants compared to older children (OR 9.00 [CI 4.75-17.07], p < 0.0001). RSB combined with AChE staining is a simple, safe and accurate method for the diagnosis of HD. The risk for RSB-related complications is higher in newborns and infants.

PS-296 Hirschsprung’s Disease Presenting In The Neonatal Period: A Regional Centre Experience

Background Hirschsprung Disease (HD) is characterised by the absence of ganglion cells in the distal bowel commonly presents in neonatal period with a suggestive history. However a rectal biopsy (RB) is required to confirm the diagnosis. The reported incidence in the UK is 1:5000. Aim To describe the clinical characteristics of neonates with HD presenting to a regional neonatal surgical centre. Methods Retrospective review of clinical records over a 2 year period (2012–2013). Results 15/51 infants evaluated had a positive rectal biopsy (RB) 4 infants were inborn (Inborn Incidence 1/3000), 11 were referred from 7 other London hospitals. Initial presenting complaint in the HD (non HD) groups was: Abdominal distention 93% (95%) Delayed passage of meconium 78.5%,(69.5%) Bilious vomiting 57% (82%), Poor feeding 7% (35%). Gestation age (mean,(range)) was 39 (37–41). Infants were referred on d 3 (1–10) RB was performed on day 9 (2–37), 85% were initially managed with rectal washouts and discharged home. 2 infants required an operation in the neonatal period. The remainder underwent surgical procedure on day 159(61–521). Conclusion HD needs to be considered and a RB performed in infants with consistent history and examination Especially abdominal distention or history of delayed passage of meconium. The incidence of HD may be higher in some populations and this should be evaluated further.

Association of Hirschsprung's disease with anorectal malformations: the early alarming signs for diagnosis and comorbidity related to this association

Background and aimThe association of Hirschsprung's disease (HD) and anorectal malformation (ARM) is rare. The aim of this study is to highlight the frequency of this rare association and comorbidity that may be related to this association. Patients and methodsEleven cases out of four hundred forty six cases (2.5%) with ARM found to have HD association presented to Assiut University Children Hospital. All cases were diagnosed by complete clinical, radiological assessment and histopathological examination before correction. The evaluating parameters for those patients were the early warning signs for diagnosis, any unnecessary procedures done and any associated morbidity related to misdiagnosis of this association. ResultsAge at presentation of these eleven cases ranged from 2 days to 10 years. The diagnosis started early during neonatal period only in four cases either by change of bowel caliber or nonfunctioning stoma. In the remaining seven cases the diagnosis was delayed because of unsuspected association. Fecal fistula after closure of stoma and wound dehiscence followed by incisional hernia is evident associated comorbidity. ConclusionsThe incidence of HD in ARM population seems to be more common than its incidence in the general pediatric population. Caliber change of the bowel during the first operation or nonfunctioning stoma is early alarming sign for diagnoses of such association and should direct the attention for stomal biopsy.

Association of Hirschsprung’s disease and anorectal malformation: a systematic review

The association of Hirschsprung's disease (HD) and anorectal malformation (ARM) is rare. The exact incidence of this association is not known but HD coexisting with ARM has been reported in 2.3 to 3.4% of ARM cases. Most of the reported cases in the literature have been single case reports. The aim of this systematic review was to determine the incidence of HD associated with ARM and its relationship to other syndromes. A systematic review of the literature was performed for the keywords "association of Hirschsprung's disease and anorectal malformation", "aganglionosis and anorectal malformation" as well as "congenital megacolon and anorectal malformation". Resulting publications were reviewed for epidemiology, operative treatment and morbidity. Reference lists were screened for additional cases. A total of 38 articles reported 90 cases of HD coexisting with ARM from 1952 to 2013. Twenty eight articles reported 40 single case reports of this association. Ten articles reported 50 cases of HD in case series of 2,465 ARM patients, resulting in an incidence of 2% of this association. Gender was reported in 63 cases, with 30 males (48%) and 33 females (52%). Associated syndromes were reported in 23 patients: Currarino syndrome in 11, Down syndrome in 8, Cat eye syndrome in 3 and Pallister-Hall syndrome in one case. Extent of aganglionosis was reported in 49 cases and included classical rectosigmoid disease in 36, long segment aganglionosis in 5, total colonic aganglionosis in 7 and total intestinal aganglionosis in one patient. In 35% of the patients stoma was created in the aganglionotic region and failed to work. There was a median delay of 8 months for the diagnosis of HD from initial diagnosis of ARM. Various surgical techniques were employed for the pull-through operation for HD. The review confirms that the recognition of HD is often delayed because of the initial diagnosis of ARM and the fact that the dysfunctional colostomy is usually proximal to the affected aganglionotic bowel. There is a high incidence of associated syndromes when HD coexists with ARM.

Hirschsprung’s disease associated with Down syndrome: a meta-analysis of incidence, functional outcomes and mortality

Down syndrome (DS) is the most frequent chromosomal abnormality associated with Hirschsprung's disease (HD). It has often been suggested that this association results in poorer outcomes with regard to postoperative complications, continence and mortality. On the other hand, the results after surgical treatment of HD in patients with DS are reportedly similar to those in cases with HD alone. The objective of this study was to determine the incidence of DS in cohorts with HD, and to compare pre-/postoperative complications, functional outcome and mortality between cohorts with and without coexisting DS. A systematic literature-based search for relevant cohorts was conducted using multiple online databases. The number of DS cases in HD cohorts was recorded and data on pre-/postoperative complications, functional outcome and mortality were extracted. Pooled odds ratios with 95% confidence intervals were calculated using meta-analysis methodology. Sixty-one articles met defined inclusion criteria, comprising data from 16,497 patients with HD. The overall incidence of DS among them was 7.32%. Vice versa, the incidence of HD in 29,418 patients with DS was 2.62%. There were no significant differences regarding the male-to-female ratio between cohorts with and without coexisting DS (4:1 vs. 3:1 respectively; P = 0.5376). The rate of additional comorbidities was significantly higher in HD associated with DS (P < 0.0001). Recto-sigmoid HD was in both cohorts the most common type of HD (P = 0.8231). Long-segment HD was significantly more frequent in HD with coexisting DS (P = 0.0267), while total colonic aganglionosis occurred significantly more often in HD without DS (P = 0.0003). There were no significant differences in preoperative constipation/obstruction (P = 0.5967), but the rate of preoperative enterocolitis was significantly higher in HD associated with DS (P = 0.0486). Postoperative complications such as recurrent enterocolitis (P = 0.0112) and soiling (P = 0.0002) were significantly more frequent in HD with coexisting DS. Although not statistically significant, fecal incontinence (P = 0.1014) and persistent constipation (P = 0.1670) occurred more often after surgical treatment of HD with DS. The mortality rate was significantly higher in HD associated with DS (P < 0.0001). The association of HD with DS is well-recognized with an incidence of 7.32%. A large number of patients with DS continue to have persistent bowel dysfunction after surgical treatment of HD. Our data provide strong evidence that the coexistence of HD and DS is associated with higher rates of pre-/postoperative enterocolitis, poorer functional outcomes and increased mortality.