Segment Hirschsprung's Disease Research Articles

Parenteral support and micronutrient deficiencies in children with short bowel syndrome: A comprehensive retrospective study

Short bowel syndrome (SBS) is the leading cause of chronic intestinal failure. The duration of parenteral support (PS) and the long-term micronutrient needs in children with SBS vary, based on their clinical and anatomical characteristics. Our study aimed to review the clinical course and identify high risk patient groups for prolonged PS and long-term micronutrient supplementation. A retrospective review was conducted on electronic medical records of children with SBS and chronic intestinal failure who were enrolled in the multidisciplinary intestinal rehabilitation program at Manchester Children's Hospital, UK. Children were included in the review if they required PN for more than 60 days out of 74 consecutive days and had at least 3 years of follow-up. Statistical analysis was performed using IBM SPSS Statistics 24.0. 40 children with SBS achieved enteral autonomy (EA) and 14 remained dependent on PS after 36 months of follow up. Necrotizing enterocolitis was the most common cause for intestinal resection (38.9%) followed by gastroschisis (22.2%), malrotation with volvulus (20.4%), segmental volvulus (9.3%) and long segment Hirschsprung disease (1.9%). Those who achieved EA had significantly longer intestinal length 27.5% (15.0-39.3) than those who remained on PS 6.0% (1.5-12.5) (p<0.001). Type I SBS was only found in the PS cohort. Median PN dependence was 10.82 months [IQR 5.73-20.78]. Congenital diagnosis was associated with longer PN dependence (21.0±20.0) than acquired (8.7±7.8 months), (p=0.02). The need for micronutrient supplementation was assessed after the transition to EA; 87.5% children had at least one micronutrient depletion, most commonly Vitamin D (64.1%), followed by iron (48.7%), Vitamin B12 (34.2%), and vitamin E (28.6%). Iron deficiency and vitamin A depletion were correlated with longer PS after multivariate analysis (OR: 1.103, 1.006-1.210, p=0.037 and OR: 1.048, 0.998-1.102, p=0.062 respectively). In our cohort, small bowel length was the main predictor for EA. Children on longer PS, had more often a congenital cause of resection and were at risk for micronutrient deficiencies in EA.

Nutritional Approach of Neonatal with High Output Stoma Due to Long Segment Hirschsprung Disease: A Case Report

Background: High Output Stoma (HOS) continues to be one of the most challenging problems for pediatrician especially in neonates. One of the most common causes in neonatal HOS is post resection long segment Hirschsprung disease.&#x0D; Case: We reported a case of three-day-old baby boy diagnosed as Hirschsprung diseases with peritonitis possibility and did laparotomy with ileal resection, double barrel ileostomy and biopsy. Nutritional management is a major subject on taking care of this type of neonatal patient. We share our experience in limited facilities with all the patient uniqueness&#x0D; Discussion: Loss of a significant length of the small bowel results in interrelated physiologic events as a result of decreased small intestinal mucosal absorptive cell. This leads to a lesser fraction of ingested food and intestinal secretion thus causing an excessive volume loss. The introduction of early enteral feeds promotes intestinal adaptation, with subsequent weaning off parenteral nutrition. Most off patient with high output stoma will require parenteral nutrition which is associated with acute and long-term complications. In our case, we did early nutritional intervention using parenteral and enteral nutrition, counting ongoing fluid loss trough stoma and adjust it to total daily fluid requirement. We found weight loss during hospitalized due to HOS, and we do catch up at the end. We found difficulties to adjust comparation between enteral and parenteral intake to maintain the weight gain.&#x0D; Conclusion: Although parenteral nutrition is often necessary, at least initially, the therapeutic goal should be to enhance intestinal adaptation and enteral nutrient assimilation, and thereby reduce parenteral nutrition requirements. Daily monitoring for ongoing fluid loss very crucial for adjusting nutrition.

Outcome of Primary Transanal pull through for Short segment Hirschsprung's disease in children without frozen section

BackgroundHirschsprung's disease is a congenital disorder of the enteric nervous system. There are many type of pull through surgeries (e.g.) Duhamel, Soave, Swenson etc. and are done openly as well as laparoscopically. This can be performed in multiple stages or in a single stage (primary). MethodologyThis cross sectional study was conducted at Pediatric Surgery Department, Lady Reading Hospital, Peshawar from January 2022 till December 2022, after approval from ethical committee (IRB # 489/LRH/MTI). All Children up to 16 year age presented with short segment Hirschsprung's disease on contrast enema and with confirmed absence of ganglion cells on rectal biopsy were included in the study. Patients with syndromic Hirschsprung's disease, those with stoma, previous surgery, not responding/compliant to rectal washout and parents unwilling for the procedure were excluded. All patient underwent Primary Transanal Pull Through (PTAPT) without frozen section. All patients were followed up to 6 months post-op. ResultsOut of 88 patients, 18(20.4%) had complications. Anastomotic stricture was found to be the most common. Complications were found to be more in male patients who were less than 6 months old. None of the patient had aganglionic or transitional zone pull through. ConclusionPTAPT can be done safely in Short segment Hirschsprung's disease in centers without frozen section facility with comparable results. At least 5 cm resection should be done proximal to the transition zone to avoid aganglionic bowel or transition zone pull through. The incidence of complications is more in males and in patients aged less than 6 months. Level of evidenceLevel IV

Swenson like Full Thickness Transanal Pull through for Short Segment Hirschsprung Disease: My Experience in A Tertiary Care Hospital Bangladesh

Introduction: The Swenson procedure was the original pull-through procedure used to treat Hirschsprung disease. The aganglionic segment is resected down to the sigmoid colon and rectum, and an oblique anastomosis is performed between the normal colon and the low rectum. Given our Center’s experience with a full-thickness transanal pull rectal dissection for anorectal malformations we chose to apply the ideas to the primary treatment of HD, and describe technical aspects and impact on fecal, urinary, and sexual function. Aim of the study: The aim of the study was to analyze the short term outcome of patients who have undergone the swenson abdominoperineal pull through operation in the treatment of Hirschsprung’s disease. Methods: This prospective study had been carried out in the Department of Pediatric Surgery, Dhaka Shishu Hospital during the period of June 2015 to December 2020. Total 60 patients with Hirschsprung’s disease with or without colostomy except total colonic aganglionosis were included in this study. We also excluded those patients with major co-morbidities and patients who did not agree to close stoma within 12 weeks of pull through. Consideration was given to postoperative complications (Cuff /anastomotic/pelvic abscess, wound infection, anastomotic leakage, fecal incontinence, urinary incontinence, mortality), operation time and post-operative hospital stay and as well as the short term outcome. We reviewed our series of HD patients who underwent a transanal, Swenson-like rectosigmoid dissection, assessing for postoperative stricture, anastomotic leak, enterocolitis, and long-term results for bowel, urinary, and sexual function. Results: A total of 60 patients were included and analyzed in this study. All of sixty patients had Hirschsprung disease in this study. The age range stared from 1-3 years and end to 8-12 years, respectively, in Table-1 whereas 33(55.0%) were from 8-12 years, 25(42.67%) patients were from 4-7 years and lastly 2(3.33%) ......

Is the appendix a good organ to diagnose total colonic aganglionosis?

The use of the appendix for diagnosis of Total Colonic Aganglionosis (TCA) remains controversial. This study aimed to categorize the presence of ganglion cells in the appendix and determine its reliability as a histological specimen for the diagnosis of TCA. This was a combined retrospective and prospective study. Permanent histological specimens of normal appendices removed during appendectomy for malrotation or falsely presumed appendicitis, and from patients with short segment Hirschsprung's disease (HD) or TCA were included. Permanent specimens of the appendix tip from Malone procedures were prospectively collected. All specimens were independently reviewed by two experienced pathologists in a standardized manner to assess for the presence of ganglion cells. A total of 112 appendices were evaluated. Nine came from patients with a diagnosis of TCA, and five from patients with HD. Ganglion cells were present in all specimens from patients with diagnoses other than TCA and were absent in all specimens from patients with TCA. In the correct clinical setting, the absence of ganglion cells in the appendix can allow for a reliable diagnosis of TCA.

Pediatric Home Parenteral Nutrition in France: A six years national survey

Home Parenteral Nutrition (HPN) is the cornerstone management for children suffering from chronic intestinal failure (CIF). In France, HPN is organized from a network of 7 certified centers located in University Hospitals spread across the national territory. This study aims to review the data involving children on HPN over a 6-years period in France to outline the global and continuous improvement in care.This cross-sectional study included all children enrolled in any of the 7 French HPN certified centers from January 1st, 2014 to December 31st, 2019. Data was recorded from annual databases provided by each center regarding: age at inclusion, indication and duration of HPN, type of intravenous lipid emulsion (ILE), outcome [PN weaning off, transfer to adult center, death, intestinal transplantation (ITx)], rate of catheter-related bloodstream infections (CRSBIs) for 1000 days of HPN, Taurolidine lock procedure (TLP) use and prevalence of cholestasis defined as conjugated bilirubin ≥20 μmol/l.The number of patients increased by 43.6% from 268 in 2014 to 385 in 2019. According to the year of follow up, the indications for HPN were short bowel syndrome (SBS) (42.3-46.6%), congenital enteropathies (CE) (18.5-22.8%), chronic intestinal pseudo-obstruction syndrome (CIPOS) (13.0-16.3%), long segment Hirschsprung's disease (LSHD) (9.7-13.3%), Crohn's disease (CD) (1.6-2.6%) and other non-primary digestive diseases (NPDD) such as immune deficiency, cancer or metabolic disease (4.0-9.2%). The median age at discharge on HPN decreased from 11.7 months in 2014 to 8.3 months in 2019 (p < .001). By December 31st, 2019, 44.8% of children had left the HPN program after a median duration ranging between 39.9 and 66.4 months. Among these patients, 192 (74.2%) were weaned off PN (94.7% SBS), 41 (15.8%) were transferred to adult centers for CIPOS (42%), SBS (31%) or CE (27%), 21 died (8.1%) - mostly in relation to cancer or immune deficiency - and 5 were transplanted (1.9%): 4 underwent combined liver-intestine transplantation for LSHD (n = 2), SBS, CE and one multivisceral Tx for CIPOS. The use of a composite fish-oil based ILE increased from 67.4% in 2014 to 88.3% in 2019 (p < 0.001). CRBSIs dropped from 1.04 CRSBIs per 1000 days HPN in 2014 to 0.61 in 2019 (p < 0.001) while meantime, the percentage of children receiving TLP increased from 29.4% to 63.0% (p < 0.001). The prevalence of cholestasis (conjugated bilirubin ≥ 20 μmol/l) was low and stable between 4.1 and 5.9% of children during the study period.In France, the number of children enrolled in a HPN program continuously increased over a 6 years period. SBS is the leading cause of CIF requiring HPN. The rate of CRBSIs dropped dramatically as the use of TLP increased. Mortality rate was low and mainly in relation to the underlying disease (cancer, immune deficiency). Cholestasis and intestinal Tx remained very rare.

Disparities in the gut metabolome of post-operative Hirschsprung's disease patients

Hirschsprung's disease (HD) is a congenital structural abnormality of the colon seen in approximately 1 to 5000 live births. Despite surgical correction shortly after presentation, up to 60% of patients will express long-term gastrointestinal complaints, including potentially life-threatening Hirschsprung-associated enterocolitis (HAEC). In this study fecal samples from postoperative HD patients (n = 38) and their healthy siblings (n = 21) were analysed using high-resolution liquid chromatography—mass spectrometry aiming to further unravel the nature of the chronic gastrointestinal disturbances. Furthermore, within the patient group, we compared the faecal metabolome between patients with and without a history of HAEC as well as those diagnosed with short or long aganglionic segment. Targeted analysis identified several individual metabolites characteristic for all HD patients as well as those with a history of HAEC and long segment HD. Moreover, multivariate models based on untargeted data established statistically significant (p < 0.05) differences in comprehensive faecal metabolome in the patients’ cohort as a whole and in patients with a history of HAEC. Pathway analysis revealed the most impact on amino sugar, lysine, sialic acid, hyaluronan and heparan sulphate metabolism in HD, as well as impaired tyrosine metabolism in HAEC group. Those changes imply disruption of intestinal mucosal barrier due to glycosaminoglycan breakdown and dysbiosis as major metabolic changes in patients’ group and should be further explored for potential diagnostic or treatment targets.

Skip segment Hirschsprung's disease: diagnostic clues and surgical management.

It is challenging to establish a definitive diagnosis and initiate timely management for skip segment Hirschsprung's disease (SSHD). Herein, we report three cases of SSHD at our institution between December 2008 and March 2018. Patient #1 was misdiagnosed and underwent three successive operations within 2years. Patient #2 and #3 were diagnosed timely based on previous experience. A segmental narrowing detected by barium enema may raise the possibility of SSHD. Laparoscopic-guided multipoint biopsy is regarded as a mini-invasive and purposeful way to take representative samples after locating the segmental narrowing intraoperatively and accurate the final diagnosis. The laparoscopic-assisted pull-through procedure with radical resection from the distal rectum to the most proximal margin of the diseased skip segment is safe and effective in treating patients with SSHD.Level of evidence: Level III.

Mesenteric Neural Crest Cells Are the Embryological Basis of Skip Segment Hirschsprung's Disease.

Background & AimsDefective rostrocaudal colonization of the gut by vagal neural crest cells (vNCCs) results in Hirschsprung's disease (HSCR), which is characterized by aganglionosis in variable lengths of the distal bowel. Skip segment Hirschsprung’s disease (SSHD), referring to a ganglionated segment within an otherwise aganglionic intestine, contradicts HSCR pathogenesis and underscores a significant gap in our understanding of the development of the enteric nervous system. Here, we aimed to identify the embryonic origin of the ganglionic segments in SSHD.MethodsIntestinal biopsy specimens from HSCR patients were prepared via the Swiss-roll technique to search for SSHD cases. NCC migration from the neural tube to the gut was spatiotemporally traced using targeted cell lineages and gene manipulation in mice.ResultsAfter invading the mesentery surrounding the foregut, vNCCs separated into 2 populations: mesenteric NCCs (mNCCs) proceeded to migrate along the mesentery, whereas enteric NCCs invaded the foregut to migrate along the gut. mNCCs not only produced neurons and glia within the gut mesentery, but also continuously complemented the enteric NCC pool. Two new cases of SSHD were identified from 183 HSCR patients, and Ednrb-mutant mice, but not Ret-/- mice, showed a high incidence rate of SSHD-like phenotypes.ConclusionsmNCCs, a subset of vNCCs that migrate into the gut via the gut mesentery to give rise to enteric neurons, could provide an embryologic explanation for SSHD. These findings lead to novel insights into the development of the enteric nervous system and the etiology of HSCR.

Is Single-stage Primary Transanal Endorectal Pull through (TEP) feasible for Short Segment Hirschsprung's Disease in Neonates?- Our Experience in a Tertiary Hospital

Background: The surgical management of Hirschsprung's Disease (HD) includes so many procedures. TransanalEndorectal Pull through (TEP) represents the latest development in the concept of the minimally invasive surgery for HD. The purpose of this study was to evaluate the out come of the procedure in neonates.&#x0D; Methods: This retrospective study was carried out in a tertiary pediatric hospital during the period from January 2007 to December 2012 (5 years). The study included neonates of both sex, weight more than 2 kg, who were clinically suspected HD, radiologically transition zone at rectosigmoid and midsigmoid region and rectal biopsy proven HD and no evidence of sepsis or entrocolitis. Short segment HD with associated anomalies, and operated cases with less than 6 months' or irregular follow up were excluded.&#x0D; Results: During study period, single-stage transanalendorectal pull through (TEP) operation was done for short segment HD in 63 neonates, 9 patients were excluded from the study for irregular follow up. The mean operative time, mean blood loss, postoperative hospital stay, follow up period were 113 minutes, 20ml, 6.8 days and 19.6 months respectively. Transverse colostomy was needed in 6 patients for anastomotic leakage, thereafter developed anastomotic stricture, managed with regular anastomotic dilatation.&#x0D; Conclusion: Advancement in pediatric anesthesia, improvement of pediatric surgical expertise, perioperative management and nursing care has made single-stage primary transanalendorectal pull-through a feasible and safe surgical procedure for the treatment of short segment Hirschsprung's disease in neonate.&#x0D; Journal of Surgical Sciences (2014) Vol. 18 (2) : 45-50

Risk factors for the development of post-operative enterocolitis in short segment Hirschsprung's disease.

The objective of this study is to identify risk factors associated with the development of post-operative enterocolitis (HAEC), in short segment Hirschsprung's disease (HSCR-S). A retrospective study was carried out for post-operative patients with HSCR-S from 1997 to 2017. HSCR-S was defined as the most proximal extension of aganglionosis limited to the sigmoid colon. An episode of HAEC was defined as the presence of (1) vomiting or explosive diarrhea; (2) abdominal distension; (3) fever and (4) leukocytosis. Risk factors for the development of HACE were determined using multivariate logistic regression. The medical records of 96 patients were reviewed. The overall incidence of HAEC was 20.8% (n = 20) and 65.0% (n = 13) of HAEC occurred within the first year of operation. After a univariate logistic regression analysis, three risk factors for HAEC were identified: (1) presence of other major anomalies [OR: 1.43 (1.12-2.32), p = 0.041]; (2) creation of pre-operative defunctioning stoma [OR: 2.28 (1.47-3.23), p = 0.035]; (3) extension of aganglionosis to the sigmoid colon [OR: 1.89 (1.05-3.19), p = 0.049]. After multivariate logistic regression analysis, a significant association was demonstrated for creation of pre-operative defunctioning stoma [OR: 1.81 (1.08-3.22), p = 0.045] and extension of aganglionosis to the sigmoid colon [OR: 1.91 (1.37-2.98), p = 0.038]. The requirement of pre-operative defunctioning stoma and a more proximal extension of aganglionosis are risk factors for the development of post-operative HAEC in HSCR-S. Patients with these risk factors should be closely followed up especially during the first year after the operation.

Utility of Image Processing and Analysis (IPA) for Diagnosis of Very Short Segment Hirschsprung Disease (vsHD)

Utility of Image Processing and Analysis (IPA) for Diagnosis of Very Short Segment Hirschsprung Disease (vsHD)

Nutritional management in a total colonic aganglionosis with ileostomy: case report

Long segment Hirschsprung disease (LSHD) or total colonic agangliosis (TCA) is one of the rarest forms of Hirschsprung disease (HD). It was among high mortality diseases since near future. Better understanding of clinical symptoms, early diagnosis with the help of radiologic imaging, development of proper surgical techniques and methods for dietary supplementation have decreased mortality and morbidity in time. Her we present a mature newborn male patient suffering from abdominal distention and vomiting. HH was suspected and agangliosis was determined in rectal biopsy specimens. Transanal endorectal pull through (TEPT) was performed and TCA was diagnosed from biopsy specimens taken during TEPT. Ileal pull through and ileostomy was performed and metabolic problems occurring due to loss from ileostomy after operation was managed with collaboration of department of metabolic diseases. Patients who are operated for definitive operations for TCA and who have ileostomy are prone to water-electrolyte imbalance and have high morbidity. In order to decrease mortality and morbidity, enteral nutrition and multidisciplinary approach are important.

Role of ano rectal myomectomy in children with chronic refractory constipation.

Background:Chronic refractory constipation (CRC) is an uncommon type of constipation. These children have persistent symptoms even after treatment with high dose laxatives, which may cause abdominal distension, vomiting, cramping and bloating. We conducted this study to assess the diagnostic and therapeutic role of anorectal myomectomy in children with CRC.Materials and Methods:This study includes 107 patients who fit the criteria of CRC. Complete bowel preparation with polyethylene glycol solution, enemas and antibiotics was carried out before surgery in all patients. The anorectal myomectomy was carried out under general anaesthesia with the patient in the high lithotomy position. The patients were followed up from 6 months to 13 years postoperatively. The success of myomectomy was based on the daily and complete passage of stools without the need for medication or enemas.Results:A total of 99 patients were included in the study, of which, 86 (86.86%) patients showed a good response to anorectal myomectomy. Of these, 32 patients had normal histology, 14 had histology suggestive of Hirschsprung's disease, 8 had hypoganglionosis, 10 had ultra-short segment Hirschsprung's disease and 22 had hypertrophic nerves with immature ganglia. Poor response was seen in 13 (13.13%) patients of whom 5 had normal histology, 5 had Hirschsprung's disease, 2 had hypoganglionosis and 1 had ultra-short segment Hirschsprung's disease.Conclusion:Anorectal myomectomy is an effective and technically simple procedure in selected patients with CRC for both diagnostic and therapeutic purposes.

Are all patients with short segment Hirschsprung's disease equal? A retrospective multicenter study.

Short segment Hirschsprung's disease (HSCR) carries a better prognosis than long segment disease, but the definition of short is controversial. The objective of this study is to determine anatomically the extent of disease involvement that would be associated with a better functional outcome. This is a retrospective multicenter (n = 3) study with patients (≥ 3years) who had transanal pullthrough operation done for aganglionosis limited to the recto-sigmoid colon were reviewed. The extent of disease involvement and bowel resection was retrieved by reviewing the operative records as well as histopathological reports of the resected specimens. Clinical assessment was performed according to the criteria of a seven-itemed bowel function score (BFS) (maximum score = 20). Manometric assessment was performed with anorectal manometry. The study period started from 2003 to 45 patients were studied with median age at assessment = 52.0 months and operation = 3.0months. The disease involvement was categorized into upper sigmoid-descending colon (DC) (n = 8), sigmoid colon (SC) (n = 12), upper rectum (UR) (n = 14) and lower rectum (LR) (n = 11) according to the level of normal biopsy result. There was no significant difference in the age of assessment between the four groups. The median BFSs in the DC, SC, UR and LR were 13, 15, 17 and 17, respectively (p = 0.01). Nine patients from the DC and SC groups reported soiling for more than twice per week. Sub-group analysis comparing patients with and without the entire sigmoid colon resected revealed worse functional outcomes in terms of the incidence of soiling (40.7 vs 22.2%, p = 0.05) and the BFS (14 vs 18, p = 0.04) in the former group. Anorectal manometry did not reveal any significant difference between the four groups, but a higher proportion of patients in the UR and LR groups appeared to have a normal sphincter resting pressure (DC vs SC vs UR vs LR = 62.5 vs 75.0 vs 85.7 vs 80.0%, p = 0.10). Patients with short segment HSCR are not equal at all. HSCR patients with aganglionosis limited to the rectum without the need of removing the entire sigmoid colon have a better bowel control and overall functional score. Less bowel loss and colonic dissection maybe the underlying reasons. Although future studies with a larger sample size and a longer follow-up period are required to validate the results of this study, it has provided a new insight to the current understanding of short segment disease in HSCR.

A Case of Hirschsprung Disease in an Adult Male

Hirschsprung disease (HD) is usually diagnosed early in childhood, but can rarely manifest in later childhood (age > 10 years old) or adulthood. Complications of HD include bowel obstruction, bowel necrosis, bacterial overgrowth and infection from stool stasis. Our case highlights the need for a high index of suspicion for HD in patients with chronic constipation without a clear medical etiology, in order to avoid long term complications. A 42-year-old man with a past medical history of chronic constipation presented with abdominal pain, nausea, vomiting, and diarrhea for 4 days. He had similar episodes in the past requiring intravenous fluids during Emergency Department visits. On physical examination, the patient had hypoactive bowel sounds, abdominal distention, and stool in rectum. Computed tomography of the abdomen/pelvis revealed severe constipation and dilated rectosigmoid colon measuring 19 cm. The patient was placed on an extensive bowel regimen with moderate stool clearance. He refused elective colon resection or biopsy. Follow-up imaging showed decreased stool content. He was discharged home on Miralax twice a day and Linzess daily, with adequate bowel movements. Outpatient colonoscopy demonstrated erythematous rectal mucosa with a hyperplastic polyp. Outpatient anorectal manometry showed normal resting and squeeze pressures and an absent rectal sensation and recto-anal inhibitory reflex suggestive of HD. The patient eventually became amenable to a rectal biopsy that revealed aganglionic neural bundles on S100 immunostatin stain consistent with a diagnosis of HD In 75% of cases, the rectosigmoid is the affected colonic segment and in 10% there is total aganglionosis of the colon. Usually, symptoms present within the first year of life and account for 80% of cases; late diagnosis is often consistent with ultra-short segment hirschsprung disease (USHD), which lacks increased acetylcholinesterase in the mucosal layers when compared to HD. Anorectal manometry is a reliable tool to aid in the diagnosis of HD with specificity and positive predictive value of 97% and 95 % respectively when combined with rectal biopsy. There is controversy surrounding the diagnostic criteria for USHD. Some believe the criteria should be modified to include ≤4 cm of aganglionosis; this would help define proper biopsy technique and decrease recurrence from insufficient resection. This area of contention warrants further study.Figure: CT A/P (8/2/16) Severe constipation with massive dilatation of the rectosigmoid colon with the sigmoid colon measuring up to 19 cm in diameter with moderate wall thickening of the rectosigmoid colon which may represent a stercoral colitis.Figure: Anorectal manometry showing normal squeeze pressures.Figure: Anorectal manometry showing normal resting pressures.

A Comparative Study between Swenson Abdominoperineal Pull-through and Transanal, Full Thickness, Swenson like Approach for Hirschsprung Disease

Background: Hirschsprung disease (HD) is a congenital developmental disorder of intrinsic component of enteric nervous system leading to severe complication which needs operative correction. There are different operative techniques existing and each technique has its advantages and disadvantages.Objective: The aim of the study was to evaluate the better outcome between Transanal full thickness swenson like pull through and Swenson abdomino-perineal pull through.Method: The Prospective comparative study had been carried out in the department of paediatric surgery, Dhaka Shishu (Children) Hospital during the period of January 2014 to July 2016. Total 56 patients with HD patients were included in the study irrespective of colostomy except major co-morbidities which can influence the general outcomes and who did not agree to close stoma within 12 weeks of pull-through operation. Patients were allocated in both groups by purposing sampling. Twenty eight patients with long segment HD were allocated in Group-A and operated by Swenson abdominoperineal pull through and 28 patients with short segment disease were allocated in group-B and operated by Transanal, full thickness, swenson like procedure.Result: Among the study population 32 (57.14%) were male and 24 (42.86%) were female with age range was 1 day- 96 months. Four patients developed urinary incontinence, 3 patients developed cuff abscess and 2 patients developed fecal incontinence. And in group-B no patient developed urinary incontinence but 4 developed cuff and anastomotic abscess and no patient developed fecal incontinence. The mean operation time 114.14 ± 13.02 in group-A and 68.36 ± 16.12 minutes in group-B. Mean hospital stay in group-A was 6.18 ± 1.83 days and 5.05 ± 0.43 days in group-B.Conclusion: The newer modification, Transanal, full thickness Swenson like procedure can be better technique in the management of HD.Bangladesh Crit Care J March 2017; 5(1): 23-27

European Paediatric Surgeons' Association Survey on the Management of Hirschsprung Disease.

All respondents perform rectal biopsies (61% rectal suction [RSBs], 39% open full-thickness), 96% contrast enema, and 31% anorectal manometry. At RSB, 17% take the most distal biopsy 1 cm above the dentate line, 34% take 2 cm, 30% take 3 cm, and 19% take > 3 cm. Rectal biopsy staining's are hematoxylin/eosin (77%), acetylcholinesterase (74%), calretinin (31%), S100 (2%), nicotinamide adenine dinucleotide-tetrazolium reductase (2%), succinate dehydrogenase (1%), and neuron-specific enolase (1%). A total of 85% respondents recognize entities including hypoganglionosis (69%), intestinal neuronal dysplasia (55%), and ultrashort segment HD (50%). Pull-through (PT) is performed at diagnosis by 33% or delayed by 67% (4 months or > 5 kg). Awaiting definitive surgery, 77% perform rectal irrigations, 22% rectal dilatation/stimulations, and 33% perform a stoma. The preferred type of PT is the Soave approach (65%), performed with transanal technique by 70% respondents. If symptoms persist after PT, most opt for conservative approach (enemas/laxatives = 76%; botulinum toxin = 27%), 30% would redo the PT. Total colonic aganglionosis: PT is performed in neonates (4%), at 1 to 6 months (29%), 6 to 12 months (37%) or older (30%). If required, a stoma is sited in the ileum (31%), according to intraoperative biopsies (54%), macroscopic impression (13%), and radiology (2%). Duhamel PT is performed by 52%, Soave by 31%, and Swenson by 17%. Overall, 31% would perform a J-pouch. Conclusions Most aspects of HD management lack consensus with wide variations in obtaining a diagnosis. Transanal Soave PT is the most common technique in standard segment HD. Guidelines should be developed to avoid such variability in management and to facilitate research studies.

Skip segment Hirschsprung's disease in a patient with Shah-Waardenburg Syndrome

Abstract Introduction We present a new case of Skip segment Hirschsprung's disease (SSHD) associated to Waardenburg's syndrome, in a patient with total colonic aganglionosis (TCA). Even though there are more than 30 cases reported in the literature, SSHD's existence is controversial, due to the fact that there is not clear embriological theory to explain this phenomenon. Case report 20 months-old male patient, that at four days-old had a temporary ileostomy because of an episode of intestinal obstruction. A microileum and right microcolon was observed at the moment of surgery. Biopsies of the ileum and microcolon confirmed the aganglionism. At four months-old definitive surgery was performed according to Boley's procedure. Hystopathological study of the surgical piece showed absence of ganglion cells in cecum and ascending colon (SSHD). The postoperatory has been favorable. A mutation in SOX10 gen was objectified in the molecular study, that confirmed the Shah Waardenburg syndrome. Discussion Most of cases of SSHD were observed in patients with TCA, as in our case. These patients usually need a temporary stoma before the definitive surgery. We think that the only way to discover SSHD cases is to make extended biopsies in left, transverse and right colon, and in ileum, while performing the ileostomy or in the definitve surgery. Conclusion SSHD must be included as a new phenotype in Hirschsprung spectrum. Preservation of these intestinal segments can improve intestinal function, specially in patients with TCA.

Calretinin Variant in Hirschsprung Disease: Pretransitional Sign and Surgical Planning.

Objectives Calretinin immunohistochemistry (IHC) with slight submucosal positivity (variant) has been reported in short forms of Hirschsprung disease (HD). The first aim of our study was to confirm this variant being a pretransitional sign. The second was to evaluate if its presence on suction rectal biopsy was reliable enough for surgical planning. Methods We performed a monocentric retrospective study of all rectosigmoid HD between 2009 and 2014. Suction rectal biopsy defined two groups of calretinin results: P- group with no staining and P+ group with slight positivity. P- group final resection specimen was retrospectively reanalyzed looking for the variant to appear within the aganglionic bowel. P+ group surgical management was analyzed in terms of initial symptoms, radiological results, type of surgery and outcome, before and after formal identification of the variant by our pathologists (2011). Results Overall, 54 patients with rectosigmoid HD were included from 2009 to 2014. In the P- group (48.2%), the variant pattern finally appeared on all surgical resection specimens, 1 cm before the transitional zone (minimum-maximum: 0-5 cm). In the P+ group, 46% of these patients had peroperative biopsies before the transanal pull through before 2011 against 10% after 2011, with 100% of ganglionic coloanal anastomosis and similar outcome. Conclusion We confirmed our hypothesis of this varied pattern of calretinin being a pretransitional sign only visible on rectal suction biopsies in short segment HD and reliable enough to plan direct transanal pull through.