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.

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.

Appendicular Biopsy in Total Colonic Aganglionosis: A Histologically Challenging and Inadvisable Practice.

Background The reliability of intraoperative evaluation of ganglion cells in the appendix as a guide to a diagnosis of total colonic aganglionosis is unclear. Objective To evaluate the diagnostic utility of appendicular innervation in colonic Hirschsprung disease (HD) and TCA. Methods Prospective, systematic study of ganglion cells and the neural plexii in appendices from cases (HD and TCA) and age matched controls with frozen and paraffin sections, rapid acetylcholinesterase (AChE) and immunohistochemistry. Results A total of 48 appendices (28 controls, 20 cases; 19 frozen) were evaluated. Of these 48, 30 were neonates. Ganglion cell clusters were smaller in controls (28) and HD (6) than those in the rectum, distorted at places and mimicked lymphocytes and endothelial cells, especially in neonates. Complete study of 13 appendices in TCA showed absence of ganglion cells, hypertrophic nerves, AChE activity, and calretinin staining. In 2/13 TCA, an erroneous frozen section identification of ganglia was later corrected based on AChE histochemistry and a panel of IHC stains. Ileal biopsies guided the placement of a ganglionic ileostomy in all. One case each of skip segment aganglionosis in a TCA and variable hypoganglionosis in long segment colonic HD is reported. Conclusion Intraoperative characterization of appendicular innervation as a guide to the diagnosis of TCA is unreliable, in part because of the possibility of skip segment disease/variable hypoganglionosis. We propose terminal ileal biopsies for diagnosis and leveling of aganglionosis. AChE on frozen/calretinin on paraffin tissue is the best approach to avoid diagnostic errors.

Bowel dysfunction following pullthrough surgery is associated with an overabundance of nitrergic neurons in Hirschsprung disease

PurposeRecent evidence suggests that patients with Hirschsprung disease (HD) have abnormal neurotransmitter expression in the ganglionated proximal colon. These alterations may cause persistent bowel dysfunction even after pullthrough surgery. We sought to quantify the proportion of nitrergic neurons in the ganglionic colon of HD patients and relate these findings to functional outcome. MethodsThe proximal resection margin from 17 patients with colonic HD who underwent a pullthrough procedure and colorectal tissue from 4 age-matched controls were immunohistochemically examined to quantify the proportion of nitrergic neurons. The incidence of constipation, incontinence, and enterocolitis in HD patients was assessed retrospectively and correlated with the proportion of nitric oxide synthase (NOS) expressing neurons. Neuronal subtypes in the ganglionic colon of the Edrnb−/− mouse model of HD were also studied. ResultsMice with HD had a significantly higher proportion of NOS+ neurons in ganglionic colon than normal littermates (32.0±5.6% vs. 19.8±1.2%, p<0.01). Patients with HD also had significantly more NOS+ neurons than controls (18.4±4.6% vs. 13.1±1.9%, p<0.01). Patients who experienced constipation or enterocolitis postoperatively tended toward a higher proportion of NOS+ neurons (21.4±3.9% vs. 17.1±4.1%, p=0.06). Furthermore, patients with a proportion of NOS+ neurons above the median of all HD patients (18.3%) were significantly more likely to have constipation than those below the median (75% vs. 14%, p<0.05). ConclusionAn overabundance of nitrergic neurons in the proximal resection margin is associated with HD and may predict bowel dysfunction following pullthrough surgery.

Delayed diagnosis of Hirschsprung's disease associated with colonic atresia and multiple anomalies: Report of a case and review of the literature

Abstract The co-occurrence of colonic atresia and Hirschsprung's disease is extremely rare and presents a diagnostic and therapeutic challenge. Although colonic atresia is usually recognized shortly after birth, the diagnosis of co-existent Hirschsprung's disease is usually made following anastomotic failure or intestinal obstruction subsequent to restoration of intestinal continuity. This report describes a female infant born with colonic atresia and Hirschsprung's disease associated with multiple anomalies. Previously reported cases are also reviewed, with an emphasis on the importance of coexistent Hirschsprung's disease in any infant born with colonic atresia.

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.

The distal level of normally innervated bowel in long segment colonic Hirschsprung’s disease

The definitive surgical management of Hirschsprung's disease (HD) depends on an unambiguous histological diagnosis of bowel aganglionosis, as well as an accurate assessment of its proximal extent from the rectum or 'leveling'. This study aimed to evaluate and compare the transition zone in rectosigmoid and long segment colonic forms of HD. One hundred and fifteen cases of rectosigmoid Hirschsprung's disease (RSHD) and 20 cases of long segment colonic Hirschsprung's disease (LScHD) managed from 1998 to 2008 with a consensus prospective protocol were included in this clinicopathological analysis. In RSHD, the radiologic transition zone (rTZ)/gross appearance at laparotomy correlated with the histological 'leveling' in the majority (96%); the histologic transition zone was also short and predictable. In contrast, the rTZ in LScHD was conclusive in only 53%; overall the radiologic and histological transition zones concurred in only 26%. The histologic transition zone extended proximally for an unpredictable length before normal circumferential innervation was noted. A stringent intraoperative histological evaluation of the colon as outlined is more helpful than radiology to establish the distal level of normally innervated bowel in LScHD and achieve an accurate leveling during a colostomy/pull through.

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.