Approach Considerations
If Hirschsprung disease is suspected, neonates and children should be assigned to a center where pediatric specialists are available to make the diagnosis and to provide definitive care. [53]
Consult with pediatric surgeons and pediatric gastroenterologists. Genetic consultation may be indicated (if a heritable or chromosomal anomaly is suspected).
It is important that conversations between patients and/or caregivers and clinicians take place regarding transitions in care from pediatric providers to adult providers, and that plans for transitional care be implemented early. [54]
Hirschsprung disease cannot be prevented; however, perceptive clinical acumen may prevent delays in the diagnosis.
Medical Care
The general goals of medical care are three-fold: (1) to treat the manifestations and complications of untreated Hirschsprung disease, (2) to institute temporizing measures until definitive reconstructive surgery, and (3) to manage the postoperative bowel function.
The objectives of medical care are to maintain normal fluid and electrolyte balance, to minimize bowel distention and prevent perforation, and to manage complications. Intravenous fluid resuscitation and maintenance, nasogastric decompression, and administration of intravenous antibiotics (as indicated) remain the cornerstones of initial medical management.
Colonic lavage, consisting of mechanical irrigation with a large-bore rectal tube and large volumes of irrigant, may be required.
Intravenous administration of balanced salt solutions may help prevent electrolyte imbalances.
Postoperative medical management
Postoperatively, routine colonic irrigation and prophylactic antibiotic therapy may decrease the risk of developing enterocolitis. [55, 56] For patients who do develop enterocolitis, nasogastric decompression, intravenous fluids, antibiotics, and colonic lavage may be necessary. Sodium cromoglycate, a mast cell stabilizer, has also been reported to benefit these patients. [57]
Botulinum toxin injections within the contracted internal sphincter mechanism have been reported to induce more normal patterns of bowel movements in postoperative patients with obstruction [58] or enterocolitis. [59, 60]
In 2017, the American Pediatric Surgical Association (APSA) Hirschsprung Disease Interest Group released guidelines for managing Hirschsprung-associated enterocolitis. [61] In general, treatment of enterocolitis consists of intravenous antibiotics and aggressive colonic irrigations. [61] Some experts advocate decompression of the bowel, especially in patients with long-segment disease, by placing an enterostomy proximal to the transition zone.
Diet and activity
The patient should have nothing by mouth for 6-8 hours prior to operation.
Postoperatively, the patient will receive intravenous fluids and antibiotics; however, nothing may be administered by mouth until the passage of flatus or stool signifies return of bowel function. If a newborn undergoes creation of a diverting colostomy, the passage of flatus or stool from the stoma is necessary prior to the institution of oral feeding.
Upon resumption of bowel function, tube feeding or formula/breast milk may resume. Clear liquids are delivered by mouth, and the diet may be advanced until the feeding goals are met. Feedings are usually initiated 24-48 hours after the creation of a colostomy. The patient may be discharged from the hospital upon attaining full feedings.
Diets consisting of fresh fruits, vegetables, and high-fiber articles may improve postoperative bowel function.
With regard to activity, limit physical activity for about 6 weeks to allow the incisions to heal properly (applies more to older children).
Also see Pediatric Hirschsprung Disease and Hirschsprung Disease Imaging.
Surgical Care
Surgical management of Hirschsprung disease begins with the initial diagnosis, which often requires a full-thickness rectal biopsy. Traditionally, a diverting colostomy was created at the time of diagnosis, and definitive repair was delayed until the child grew to a weight of 10 kilograms.
This standard of treatment was developed in the 1950s after Swenson reported relatively high leak and stricture rates with a single-stage operation.
Advancements in anesthesia administration and hemodynamic monitoring have led many surgeons to advocate a single-stage pull-through procedure without initial diversion. Contraindications to a single-stage procedure include severely dilated proximal bowel, severe enterocolitis, perforation, malnutrition, and inability to accurately determine the zone of transition between healthy and aganglionic bowel, intraoperatively.
For neonates undergoing creation of a diverting colostomy, the transition zone is identified and the colostomy is placed proximal to this area. The presence of ganglion cells at the colostomy site must be unequivocally confirmed by histological evaluation of a frozen-section biopsy. Either a loop- or end-colostomy is created at the surgeon’s discretion.
A number of definitive procedures have demonstrated excellent results when performed by experienced surgeons. The most commonly performed repairs are the Swenson, Duhamel, and Soave procedures. In any elective operation for Hirschsprung disease, a robust preoperative colon cleansing must be performed. [62] Intraoperatively, histological examination of a frozen-section biopsy must confirm the presence of ganglion cells at the proximal margin of bowel intended for anastomosis. A meta-analysis performed by Friedmacher and Puri in 2011 reported that residual aganglionosis and transition-zone tissue account for persistent bowel symptoms in one third of patients undergoing a second, corrective pull-through procedure. [32]
However, long-term complications of pull-through procedures may include intermittent enterocolitis, severe stool retention, as well as intestinal obstruction. [53]
In 2017, the American Pediatric Surgical Association (APSA) Hirschsprung Disease Interest Group released guidelines for managing postoperative obstructive symptoms that include an algorithm to aid in the diagnosis and treatment of such symptoms following pull-through procedures. [63] They indicated that the causes of postprocedure obstructive symptoms include the following and should be ruled out to determine treatment [63] :
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Mechanical obstruction
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Persistent/acquired aganglionosis, hypoganglionosis, or transition zone in the pull-through bowel
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Internal sphincter achalasia
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Motility disorder in the proximal intestine that contains ganglion cells
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Functional megacolon caused by stool-holding behavior
In 2019, the APSA Hirschsprung Disease Interest Group released guidelines for managing postoperative soiling in children with Hirschsprung disease. [64] In the small group of patients who do not fare well following pull-through surgery, the most common problems include soiling, obstructive symptoms, enterocolitis, and failure to thrive. Management includes a combination of bowel management, dietary changes, and laxatives. If indicated, a redo operation may be considered. [64]
Also see Pediatric Hirschsprung Disease and Hirschsprung Disease Imaging.
Swenson procedure
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.
Duhamel procedure
The Duhamel procedure was first described in 1956 as a modification to the Swenson procedure. A retrorectal approach is used, and a significant segment of aganglionic rectum is retained.
The aganglionic bowel is resected down to the rectum, and the rectum is oversewn. The proximal bowel is then brought through the retrorectal space (between rectum and sacrum), and an end-to-side anastomosis is performed with the remaining rectum.
A single-institution retrospective review (2002-2014) of 72 children who underwent surgical intervention for Hirschsprung disease found satisfactory outcomes with the Duhamel procedure, but 40% of the patients had to undergo further surgery. [65] The early complication rate was 15%, with 11 patients (15%) experiencing Hirschsprung associated enterocolitis (HAEC).
Soave (endorectal) procedure
The Soave procedure was introduced in the 1960s. The mucosa and submucosa of the rectum are resected, and the ganglionic bowel is pulled through the aganglionic muscular cuff of the rectum.
The original operation did not include a formal anastomosis, relying on scar tissue formation between the pull-through segment and the surrounding aganglionic bowel. The procedure has since been modified by Boley to include a primary anastomosis at the anus.
Anorectal myomectomy
For patients with extremely short-segment Hirschsprung disease, anorectal myomectomy is an alternative surgical option.
The surgeon removes a 1-cm-wide strip of extramucosal rectal wall, beginning immediately proximal to the dentate line and extending to the normal ganglionic rectum. The mucosa and submucosa are preserved and closed.
Procedures for long-segment Hirschsprung disease
Patients with total colonic involvement require modified procedures to exclude the aganglionic colon while preserving maximal absorptive epithelium. The goal of these procedures is to bypass the dysfunctional bowel while maximizing the chance of postoperative nutritional function and growth.
Most procedures include a side-to-side anastomosis of healthy small bowel with a short segment of the aganglionic/absorptive colon. Either a short right colonic patch or the small bowel is anastomosed to the rectal wall, similar to a Duhamel procedure. Importantly, a short patch (< 10 cm) is maintained.
Long-segment anastomoses, such as the Martin procedure, are no longer advocated.
Laparoscopic approach
A laparoscopic approach to the surgical treatment of Hirschsprung disease was first described in 1999 by Georgeson. [66] The transition zone is first identified laparoscopically, after which the rectum is mobilized below the peritoneal reflection. A transanal mucosal dissection is performed, and the rectum and aganglionic bowel is prolapsed through the anus. The healthy proximal bowel is anastomosed to the rectal cuff. Functional outcomes of this laparoscopic approach appear to be equivalent to open techniques based on short-term results. [66, 67, 68]
A long-term institutional study of outcomes following laparoscopic Duhamel procedure for extended Hirschsprung disease (extended aganglionosis) in 30 French children over 22 years (1991-2013) showed the procedure to be safe and effective but also revealed an association between late outcomes and late enterocolitis with Crohn-like ulcerations. [69] Over the short term, repeat intervention was required in 13% of children, but satisfactory bowel control was achieved in 53% of patients. Unfortunately, 22% of children suffered late enterocolitis, with all of these patients demonstrating Crohn-like ulcerations on endoscopy. [69]
Transanal pull-through procedures
Transanal pull-through procedures have been described in which no intra-abdominal dissection is performed. [25, 33] The entire procedure is performed transanally in a manner similar to perineal rectosigmoidectomy.
The mucosa is incised circumferentially above the dentate line, and a submucosal dissection is directed proximally. The muscularis is incised circumferentially, and the remainder of the dissection is carried external to the rectal wall until the transition zone is identified. Upon confirmation of ganglion cells on frozen section, the aganglionic bowel is resected and an anastomosis is performed.
Outcomes of the transanal pull-through procedure have been similar to open single-stage approaches, and analgesia requirements and hospital stays are decreased. [25, 70, 71] Studies have also reported lower rates of postoperative incontinence and shorter operating times in transanal pull-through procedures. [72, 73]
A long-term institutional study of bowel function outcomes that compared the transanal endorectal pull-through approach with that of the Soave-Denda abdominal approach over 30 years (1984-2015) in 110 Japanese children with Hirschsprung disease revealed that both procedures improved the evacuation score, with satisfactory postoperative results at a minimum of 10 years. [74] However, although the transanal approach was less complex, less invasive, and adaptive for neonates/small infants, its scores for incontinence and bowel movement frequency were significantly lower than those for the abdominal approach.
Novel strategies
Several other creative approaches have been described, including a modification of the transanal approach with transabdominal open or laparoscopic assistance, single-incision laparoscopic endorectal pull-through (SILEP), and natural orifice transluminal endoscopic surgery (NOTES). [75, 76, 77, 78]
Regenerative strategies are under investigation to restore function in the aganglionic intestine. Stem cell transplantation to regenerate the enteric nervous system is the subject of many recent experimental series. [79, 80] Stem cells derived from the neural crest persist into adulthood, and several are capable of proliferation and differentiation within the intestine. Hotta and colleagues reported successful generation of functional enteric neurons from precursor cells transplanted into the recipient colon. [79] Though auspicious, these discoveries warrant further study to translate cell-based therapies into clinical practice.
Outpatient Monitoring
After a definitive pull-through procedure is performed, the patient should achieve normal growth and development.
Patients should be monitored for their bowel habit. Patients with no other underlying disorders and no postoperative complications often develop improved bowel function; however, normal bowel habit may take years to develop.
After definitive surgical repair, patients may experience persistent abnormal gastrointestinal motility. Postoperative hypomotility is relatively common, and many patients require a prolonged course of laxative treatment. Patients who retain stool despite laxative therapy may require enemas. [81]
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A: Plain abdominal radiograph showing a transition zone (PARTZ) at the rectosigmoid. B: Plain abdominal radiograph showing a PARTZ at the midsigmoid. C: Plain abdominal radiograph showing a PARTZ at the descending colon. D: Contrast enema showing a contrast enema transition zone (CETZ) at the rectosigmoid. E: Contrast enema showing a CETZ at the midsigmoid. F: Contrast enema showing a CETZ at descending colon. Images courtesy of Pratap A, Gupta DK, Tiwari A, et al. BMC Pediatr. 2007 Jan 27;7:5. [Open access.] PMID: 17257439, PMCID: PMC1790893.
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Hirschsprung disease. Contrast enema demonstrating transition zone in the rectosigmoid region.
