Total Colonic Hirschsprung's Disease Research Articles

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.

Nationwide Outcomes of Immediate Versus Staged Surgery for Newborns with Rectosigmoid Hirschsprung Disease

PurposeDebate exists on whether patients with Hirschsprung Disease (HD) should undergo immediate resection during their newborn hospitalization or undergo a staged procedure. This study sought to compare postoperative outcomes among newborns receiving immediate versus staged surgery for rectosigmoid HD. MethodsThe Nationwide Readmission Database was queried (2016–2018) for newborns with HD who underwent surgical resection during their newborn hospitalization (immediate) versus planned readmission (staged). Those who did not receive rectal biopsy or had long-segment or total colonic HD were excluded. A propensity score-matched analysis (PSMA) of patients receiving either surgery was constructed utilizing >70 comorbidities. Outcomes were analyzed using standard statistical tests. Results1,048 newborns with HD were identified (56% immediate vs. 44% staged). Staged resection was associated with higher total hospitalization cost ($56,642 vs. $50,166 immediate), p = 0.014. After PSMA, the staged cohort was more likely to require home healthcare at discharge and experience unplanned readmission (40% vs. 23%). These patients experienced more gastrointestinal complications (40% vs. 22%) on readmission, especially Hirschsprung-associated enterocolitis (35% vs. 20%). ConclusionNewborns receiving staged procedures for HD experience higher rates of unplanned readmission complications and incur higher hospitalization costs. This information should be utilized to defray healthcare utilization costs for newborns with HD. Type of studyRetrospective Comparative. Level of evidenceIII.

Diagnostic challenge of concomitant small bowel atresia and Hirschsprung's disease

The incidence of ileal atresia ranges from 1/5000 to 1/12000 births. The incidence of Hirschsprung's disease is 1/5000. The combination of Hirschsprung disease and ileal atresia during infancy seems to be a rare event and the exact incidence of the association of the two malformations remains unknown. Several embryo-pathological theories have been offered to explain the correlation of these two malformations. Some of them state that atresia would be a consequence of aganglionnosis and some others the contrary. The urgency of an early detection of this associations is related to her increased morbidity during management, especially if part of the phenotype remains unidentified. To date, less than 25 case of ileal atresia associated with Hirschsprung's disease are reported in Literature. We present two cases managed in our department initially for ileal atresia. Diagnosis of total colonic Hirschsprung's disease associated was placed later, after the appearance of an intestinal occlusion at the time of the restoration of digestive continuity. The first case was derived three times, and the second twice before becoming digestive self-sufficient. The dysfunction of the anastomosis after restoration of continuity is a dangerous complication which underlines the interest of the early diagnosis of the association ileal atresia and Hirschsprung's disease. It is necessary to have the rectal biopsy early, especially when the patient continues to exhibit poor bowel function after corrective surgery.

Total Colonic Aganglionosis in Hirschsprung disease

Total Colonic Hirschsprung Disease (HD) can be challenging from a diagnostic and management standpoint and occurs in around 8% of cases of HD. Long term outcomes are difficult to compare due to variation in length of aganglionosis, chosen surgical techniques, and terminology utilized in the literature. In this review we highlight some of the management controversies and clinical challenges and emphasize future areas of suggested collaboration and research.

A rare association of ileal atresia and total colonic Hirschsprung's disease

Total colonic aganglionosis is the most rare form of Hirschsprung's disease and is defined as the absence of ganglion cells in both myenteric and submucosal plexus extending from the anus to at least the ileocecal valve. Intrauterine intussusceptions, on the second hand, is also extremely rare. It may occur in late stage of pregnancy and cause impairment of blood supply to a segment of intestine leading to its resorption and atresia. The coexistence of total colonic Hirschsprung's disease, intrauterine intussusception and ileal atresia has yet to be described in the literature. We present this rare case of intrauterine intussusception causing an association of ileal atresia and total colonic Hirschsprung's disease. The diagnosis was performed per-operatively.

Total Colonic Hirschsprung's Disease: The Hypermotility and Skin Rash Protocol.

Total colonic Hirschsprung's disease (TCHD) presents a postoperative challenge due to multiple stools and perineal rash. We propose a protocol developed by pediatric surgeons and ostomy nurses to help prevent and treat hypermotility and severe perineal rash, especially in younger children who are not toilet trained. We retrospectively reviewed our TCHD patients' charts from 2014 to 2017. All patients received a prescribed protocol for the treatment of hypermotility and perineal rash. We describe patients who underwent their pull through before and after the age of urine toilet training, and assessed the number of bowel movements, the perineal skin status, and growth. We treated 25 patients. Out of 25, 9 patients received a straight ileoanal pull through before the age of 18 months. Nine of 25 patients presented for a second opinion and had redo pull through. The remaining seven presented for bowel management after having a pull through at another institution. All these were treated following the hypermotility protocol. In total, 19 of 25 patients were not toilet trained. The mean number of bowel movements in all groups was 4 (3-5). All had a resolution of perineal rash and liquid stools after 3 months. Eleven of the 25 patients presented with failure to thrive. Two older patients experienced severe proctalgia requiring replacement of the ileostomy. TCHD patients who underwent definitive pull through had nine high incidence of multiple stool, perineal rash, and low growth. With the implementation of bowel management care to slow the stools and a perineal skin protocol to treat the skin, we believe that these symptoms can be minimized even in patients who are not toilet trained. Since the implementation of this protocol, we have changed our practice to perform the pull through in such patients between the age of 6 and 18 months.

Laparoscopic Soave procedure for long-segment Hirschsprung's disease - single-center experience.

IntroductionHirschsprung’s disease (HD) is one of the most common and severe diseases treated in pediatric surgery. Since the introduction of the laparoscopic technique into pediatric surgery, laparoscopic-assisted radical surgery for HD has demonstrated unique advantages. Long-segment and total-colon HD are the best indications for laparoscopic-assisted surgery.AimTo summarize clinical experience of the laparoscopic Soave procedure for long-segment HD in a single center.Material and methodsThe data of children with long-segment HD who underwent the laparoscopic Soave procedure in our department from January 2013 to May 2018 were reviewed. The clinical features, surgical procedures and follow-up results were summarized and analyzed.ResultsThirty-one children underwent the laparoscopic Soave procedure; none of them were converted to open surgery. The average hospitalization time was 8.7 days after the operation, and no immediate postoperative complications occurred. There was no recurrence of constipation. Six (19.3%) cases were complicated with HD associated enterocolitis in the first 3 months postoperatively; 5 (16.1%) cases had soiling in the first year. There were 0 cases of adhesive bowel obstruction, 0 cases of anastomotic stenosis, and 0 cases of constipation.ConclusionsA small volume centre may achieve satisfactory results for long-segment HD. The laparoscopic Soave procedure is a minimally invasive, safe and effective treatment.

Colonic diverticulosis in an infant: A clue to total colonic Hirschsprung disease

Total colonic aganglionosis is a rare phenotype of Hirschsprung disease (HD). While the diagnosis is generally established within the neonatal period there are reports of delayed presentation. In this case, we describe a 9-month old girl with no previous medical or surgical history who presented with a small bowel obstruction. A contrast enema performed as part of the work up demonstrated right sided colonic diverticula with no other anatomical abnormalities. Surgical intervention was required to manage the obstruction and colonic biopsies were consistent with HD. This case highlights the association of the unusual finding of colonic diverticula with total colonic HD in infants.

Assessment of Patients with Hirschsprung Disease and the Use of Laparoscopy.

Objectives:This study aims to evaluate patients who were diagnosed and treated due to Hirschsprung disease (HD) in our clinic.Methods:We retrospectively evaluated the demographic and clinical findings of the patients with HD, who were operated in our clinic between January 2010 and December 2015.Results:During study period, 28 patients (19 male 9 female) were found to be operated due to HD in our clinic. Mean age was 16.8 months (1-168). “Transanal Endorectal Pull–through (TERPT)” was performed to 20 of them, Duhamell procedure to five and Soave procedure to three of them. TERPT was applied as laparoscopy assisted in four of them and biopsies were taken laparoscopically preoperatively from one of the patients from each group. Soave procedure was performed in three patients; one had anal stenosis and history of recurrent enterocolitis after TERPT procedure and pathologic analysis revealed neuronal intestinal dysplasia and the other one had total colonic HD and performed Soave procedure with colonic patch. Seven (25%) patients had enterocolitis. Frequencies of enterocolitis were three in two patients, two in two patients and one in three patients. Broad spectrum anibiotics and rectal washouts were supplied to these patients. Five of the seven patients with enterocolitis were operated with TERPT; two patients were operated with Duhamell procedure. Only one of them had total colonic HD. Three patients had total colonic HD diagnosis. Two of them were operated with Duhamell-Martin procedure and one was with Soave procedure with colonic patch according to Kimura technique. Anal stenosis developed in two patients after TERPT and treated with dilatations. Soiling rate was 3% (1/28) and this single patient was treated with laxatives and toilet training. Mean duration of hospitalization was 8.75 (2-14) days. Mean length of the removed intestinal segment was 23.6 (5-38) cm. Mean follow-up was for 35.5 (2-56) months. Neither of the patients was followed in the intensive care unit postoperatively nor died.Conclusion:TERPT procedure win priority in HD, but other procedures keep importance. Recently, laparoscopy-assisted TERPT is preferred in our clinic in HD therapy due to easy biopsy, full exposure to the transitional zone, the advantage of meso preparation of colon and prevention of strained anastomosis.

Amyand's hernia masquerading inguinal abscess complicated with appendico-cutaeneous fistula in an infant with Hirschsprung's disease

Abstract A normal or diseased vermiform appendix located inside the inguinal hernia is called Amyand's hernia (AH). The incidence of appendicitis in Amyand's hernia is rare. The appendicitis per se is uncommon disease in infancy. We reported an extremely rare case of undiagnosed right Amyand's hernia mimicking inguinal abscess complicated with appendico-cutaneous fistula in total colonic Hirschsprung's Disease.

EJPSR - Additional Milestones Accomplished.

The European Journal of Pediatric Surgery Reports (EJPS Reports) is releasing its 4th issue, the second of 2015. In the past months EJPS Reports has reached two important milestones as it builds a reputation for publishing high-quality pediatric surgical case reports. In addition to being freely and immediately available online, all articles published in the journal are now searchable in PubMed thanks to the journal indexing in PubMed Central, resulting in published cases being much more prominent, integrated, and accessible. The second important landmark is the linking of EJPS Reports to the European Pediatric Surgeon's Association (EUPSA), reflecting the relationship to the mother journal European Journal of Pediatric Surgery (EJPS). EJPS Reports has recently become an official EUPSA publication organ for case reports. In the future, this nomination will give us the privilege to hold a dedicated case report session with at least the 10 best rated posters at the Annual EUPSA meeting. A selection of those articles will be published in a congress issue with the best three cases being rewarded with a prize. As the editor of this journal I strongly believe that properly described case reports can make a valuable contribution to surgical research and education. The nature of open-access with no paywalls for readers online, allows us to see, almost in real-time, what articles are of interest to readers of the journal. This is highlighted by a report in the last issue (EJPS Reports, 2015; 3(1): 3–6) on how the histology of the appendix can mislead the surgeon in total colonic Hirschsprung disease. This article very quickly became this year's most downloaded article and was awarded with the annual prize for the “best case report of the year” as a reflection of this success. This fourth issue of EJPS Reports consists of 11 case reports representing a wide range of pediatric surgical disciplines, including new surgical techniques and novel operative approaches. We again selected articles on surgical complications because those are often more challenging and of higher educative value to the reader than reports on perfect results. If our readers face a difficult case they should ask this question: “Is there anything I have learnt from this case that might help my fellow clinicians?” If the answer is yes and they have illustrative radiological studies or clinical images they might well have the seeds of an interesting case report and the chance to make a difference by adding to our knowledge base and improving pediatric surgical care. The EJPS Reports is a journal that has been created to provide a platform to share the best case reports in pediatric surgery and we invite you to submit your best and most interesting cases. We look forward to your contribution.

The impact of variation in access to care on the management of Hirschsprung disease

IntroductionVariation in access to care has a significant impact on the disease management process and outcomes. Variable access to care might have similar effects on the management of Hirschsprung disease (HD). However, such variation has not been highlighted. Materials and MethodsAll patients referred to 3 academic centers (ACs) with HD were reviewed. Patient presentations, referral patterns, timing, and type of surgical intervention were compared between patients born in AC and those born in non-AC. Babies born with major congenital anomalies (MCAs) or total colonic HD were excluded. ResultsBetween 1998 and 2011, 129 patients were identified. After excluding 30 patients, 99 were split into 20 inborn patients (AC) and 79 outborn patients. Outborn patients more often presented with constipation (95% vs 65%, P = .001), whereas inborn patients presented with feeding intolerance or vomiting (75% vs 39%, P = .004). Outborn patients were diagnosed and had their pull-through (PT) at an older median age (in days) of 186 (1-2621) vs 4.5 (1-451) (P = .001) and 345 (11-2757) vs 92 (3-928) (P = .001), respectively. Moreover, inborn patients were more likely to undergo primary PT (75% vs 46%, P = .02) and avoid bowel diversion (95% vs 66%, P = .02). ConclusionVariation in access to care can have a significant impact on the quality of care delivery in HD. Limited access to AC is associated with staged PT in addition to delay in the diagnosis and management.

Necrotizing Enterocolitis in Full-term Neonates: Is it Aganglionosis?

While NEC is primarily a disease of prematurity, full-term infants account for approximately 10% of cases. The aim of this study was to highlight the association of Hirschsprung's disease and NEC in full-term babies which, as far as we could ascertain, has not been reported before. A retrospective study of all surgically treated neonates presenting with NEC from November 1999 to January 2007 was performed. A total of 20 surgically managed neonates presented with NEC during the study period. Three were excluded from the study because they underwent other treatments. Patients were divided into 2 groups: Group 1 consisted of pre-term neonates with weights below 2400 g and Group 2 consisted of full-term neonates with a weight above 2400 g. Nine out of 17 were in Group 2. Peritoneal drain and proximal diversion ileostomy in the most viable part of intestine was done in the neonatal intensive care unit (NICU). Rectal biopsy was taken from 7 out of 9 in Group 2 and from one presenting with cecal perforation in Group 1. Full thickness open rectal biopsy (H&E staining) was the definitive procedure for diagnosis until 2000, when AChE staining began to be used. Duhamel's pull-through was the procedure of choice for neonates with a positive rectal biopsy. Aganglionosis was found in 4 of 7 rectal biopsies in patients weighing more than 2400 g (Group 2). One died at home while waiting for definitive surgery. Duhamel's pull-through was performed for the rest. Altogether 3 patients died (17.6%). The survivors are developing normally, only one has exhibited retarded growth. One infant suffered from cholestatic jaundice. Our results support the suspicion that a large proportion of term neonates presenting with NEC have long segment or total colonic Hirschsprung's disease. This observation is in contrast to the currently available literature on this problem from the last decade.

Imaging of total colonic Hirschsprung disease

Imaging of total colonic Hirschsprung disease

Imaging of total colonic Hirschsprung disease

Hirschsprung disease (HD) is a functional obstruction of the bowel caused by the absence of intrinsic enteric ganglion cells. The diagnosis of total colonic HD (TCHD) based on contrast enemas is difficult in newborns because radiological findings vary. To evaluate the radiographic and contrast enema findings in patients with pathologically proven TCHD. From 1966 to 2007, 17 records from a total of 31 patients with TCHD were retrospectively evaluated for diameter and shape of the colon, diameter of the small bowel, bowel wall contour, ileal reflux, abdominal calcifications, pneumoperitoneum, filling defects, transitional zones and rectosigmoid index. Three colonic patterns of TCHD were found: microcolon, question-mark-shape colon and normal caliber colon. Additional findings included spasmodic colon, ileal reflux, delayed evacuation and abdominal calcifications. Colonic transitional zones were found in eight patients with TCHD. The diagnosis of TCHD is difficult to establish by contrast enema studies. The length of the aganglionic small bowel and the age of the patient can influence the radiological findings in TCHD. The transitional zone and the rectosigmoid index can be false-positive in TCHD. The colon can appear normal. Consider TCHD if the contrast enema study is normal but the patient remains symptomatic and other causes of distal bowel obstruction have been excluded.

PREDICTING LONG-TERM OUTCOME AFTER CLOSTRIDIUM BOTULINUM TOXIN INJECTION IN SYMPTOMATIC CHILDREN AFTER HIRSCHSPRUNG'S DISEASE CORRECTIVE SURGERY

Background: The injection of Clostridium botulinum toxin (Botox) into the internal anal sphincter (IAS) in children with obstructive symptoms and/or enterocolitis after corrective surgery for Hirschsprung's disease (HD) is initially successful in 77%. However, predictors of long-term outcome after Botox are unknown. Aim: To determine which factors predict favorable long-term outcomes in symptomatic postoperative children with HD after initial Botox. Methods: A retrospective chart review of symptomatic postoperative children with HD that received Botox. Botox was usually given at the same time as rectal biopsies were performed to exclude aganglionosis. Long-term outcome was classified into four groups (excellent, good, fair, poor) based on continued symptoms, laxative usage, rectal therapies, or subsequent surgery. Excellent and good outcomes were considered favorable. Regression analyses using long term response as the outcome was performed. Results: 36 children received Botox, with a mean age of 5.3 ± 0.7 years and a follow-up of 32.9 ± 4.2 months. 29 (81%) had short segment disease and 4 (11%) total colonic HD. Past surgeries were Soave in 19 (53%), Duhamel in 9 (25%), Swenson in 5 (14%), and unknown type in 3 (8%). 16 (44%) had enterocolitis. During evaluation 7 (19%) were found to have persistent aganglionosis. 22 (61%) had multiple injections. A favorable long-term outcome was found in 15 (42%). After multivariate analysis, persistent aganglionosis predicted a poor long-term outcome (P < 0.05) with 6 (85.7%) doing poorly. Improvement after initial Botox occurred in 14 (93%) of those with a favorable long term outcome, and strongly predicted for this (P < 0.05). Other factors, including age, type of surgery, and extent of aganglionosis, were not significant predictors. Conclusions: An initial improvement after Botox is the strongest predictor of a favorable long-term outcome in children with HD after corrective surgery. Those with persistent aganglionosis are unlikely to benefit.

Acute diverticulitis after Duhamel–Martin procedure for total colonic Hirschsprung’s disease

A 28-year-old man with a history of total colonic Hirschsprung's disease treated with a Duhamel-Martin procedure in infancy, presented with signs and symptoms of acute colonic diverticulitis. Flexible sigmoidoscopy demonstrated a 20 cm jejunocolonic anastomosis, consistent with his previous operation in childhood, with a large diverticulum at the proximal end of the anastomosis containing fecal concretions. The patient returned one month later after a course of antibiotics for definitive resection of the diverticulum. Intra-operative colonoscopy localized three large diverticula and resection of the involved segment was performed. The case is presented as an adult complication of total colonic Hirschsprung's disease treated with childhood resection and reconstruction.

CONGENITAL ALVEOLAR CAPILLARY DYSPLASIA AND ASSOCIATED GASTROINTESTINAL ANOMALIES

Congenital alveolar capillary dysplasia is a rare cause of irreversible pulmonary hypertension with 100% mortality. We present three cases of congenital alveolar capillary dysplasia with associated gastrointestinal abnormalities. Three full-term neonates presented with pulmonary hypertension needing ventilatory support by oscillation. Of the three, two neonates subsequently needed extracorporeal membrane oxygenation. Abdominal distension associated with bilious aspirates was the gastrointestinal manifestation. One child had duodenal atresia and anorectal anomaly, one with intestinal malrotation and the other with a rare combination of intestinal malrotaion and total colonic Hirschsprung's disease. All three infants succumbed to pulmonary hypertension at mean age 34 days. The etiopathogenesis and pathology of this condition are discussed with a comprehensive review of the literature.

ABCD syndrome revisited

A four-day-old neonate presented with severe abdominal distention, intermittent bilious vomiting, typical black lock, partial albinism and heterochromatic iris. Ileostomy was done proximal to the transition zone at mid-ileal region (50 cms proximal to ileo-cecal region) All biopsy specimens till the transitional zone were negative for ganglion cells. Distinct features of total colonic aganglionosis and recto-sigmoid Hirschsprung's disease are delineated here.

The versatility of the umbilical incision in the management of Hirschsprung's disease

Background/Purpose The aim of this report is to describe how the umbilical incision provides a quick and safe alternative to laparoscopy or other abdominal incisions in the management of Hirschsprung's disease (HD). Methods An analysis of 24 patients with HD, who were treated using an umbilical incision as part of their operative management between 1999 and 2003, was performed. Results There were 18 boys and 6 girls (mean age at diagnosis: 16.5 ± 20.9 days). Twenty-one had rectosigmoid HD, and 3 had total colonic HD. Eighteen patients received a 1-stage transanal pull-through with transumbilical colonic biopsies at a mean age of 33.9 ± 25.3 days, and a mean weight of 3.8 ± 1.0 kg. Three patients with rectosigmoid disease had more complicated HD: 2 had a colostomy (1 enterocolitis, 1 extensive colonic dilatation), and 1 had an ileostomy (for perforated cecum). All subsequently underwent transanal pull-through. Three patients with total colonic HD had an ileostomy. All stomas were situated at the umbilicus. One of these patients subsequently underwent a Duhamel procedure via the umbilicus; 1 is still waiting; and 1 died of sepsis. Complications in this cohort included a seromuscular tear of the distal sigmoid at the level of the umbilical incision (1), infection at the umbilical incision requiring antibiotics (2), obstruction (1) and death (1 sepsis, 1 from Ondine's curse). The median time to start full feeds was 24 hours. For postoperative analgesia, 13 patients required acetaminophen only, and 9 patients received low-dose morphine. After a mean follow-up of 7.3 ± 9.7 months, there has been an excellent functional and cosmetic result in the 22 survivors. Conclusions The umbilical incision has all the benefits of a minimal access approach, but is less expensive and requires no specialized equipment or skill. The umbilical incision is an excellent, safe, and versatile alternative to laparoscopy for the treatment of patients with the full spectrum of HD.