Approach

Infants typically become symptomatic during the first few days of life.[27]​ Occasionally, a child may have minimal or absent clinical manifestations during the neonatal period and exhibit moderate, intermittent bouts of symptoms later in life. Children older than 12 months typically present with constipation that is refractory to medical treatment.

Treatment differs depending on type of disease:

  • The initial treatment of both short-segment and long-segment disease is similar, as the extent of disease is not known until confirmation of pathology. Infants with short-segment (rectosigmoid) disease can either undergo a definitive surgical procedure at the time of diagnosis, or be managed with irrigations with definitive surgery taking place within 2-3 months.[27]​

  • Infants with long-segment or total colonic disease (aganglionosis of the entire colon) typically do not respond well to irrigations and will need to undergo colonic mapping biopsies and either ileostomy or colostomy.[1][27][59] Definitive surgery (total or subtotal colectomy with ileoanal or coloanal anastomosis) is performed when stoma output is of a thicker consistency, which typically occurs at around one year old when the child has fully transitioned to solid foods.[1]​​

  • In children with Hirschsprung-associated enterocolitis (HAEC), irrigations are done aggressively, along with intravenous fluids and antibiotics (e.g., metronidazole) to improve clinical condition. In rare cases, irrigations do not improve abdominal distension and a diverting stoma is required.[27]​​

  • The management of ultrashort-segment disease is a source of controversy, as there is some debate about the existence of this subtype. See Diagnostic Criteria.

Definitive surgical treatment has changed from a 3-stage surgical approach over 6 to 8 months, to a single-stage operation done in the neonatal period. A single-stage operation should be carried out by a surgeon experienced with this treatment modality. This change has resulted from the development of the transanal and laparoscopic approach, as well as advances in neonatal care. Surgery should be performed in an optimal environment that includes a neonatal anesthesiologist and a neonatal intensive care unit.

Short-segment (rectosigmoid) or long-segment disease

In short-segment disease, the aganglionic segment includes the rectum and much of the sigmoid colon and comprises 80% to 85% of cases.[5]​ In long-segment disease, the aganglionic segment extends beyond the sigmoid-descending colon (although this definition varies between studies) and comprises up to 20% of cases.[4][6]​ The initial treatment of both short-segment and long-segment disease is similar, as the extent of disease is not known until confirmation of pathology.

Bowel irrigation

  • All patients receive irrigations in the newborn period to manage abdominal distension prior to proceeding with surgery.[11] Guidance suggests 1 to 3 irrigations per day.[27] Irrigation may not be effective in patients with long-segment or total colonic disease.[27]​​

  • It is extremely important to clarify the difference between an irrigation and an enema. To confuse these two terms may be dangerous for babies with Hirschsprung disease. An enema is a procedure in which a determined amount of fluid containing different irritant ingredients is instilled into the rectum and colon in order to elicit a bowel movement. It is expected that this volume will be spontaneously expelled. Rectal irrigation, on the other hand, is a procedure in which a large tube (20-24 F) is introduced through the rectum, and small amounts of saline solution (10-20 mL) are instilled through the lumen of the tube in order to clear the lumen of the tube. The liquid rectal and colonic content is expected to drain through the lumen of the tube. The tube is then rotated in different directions and moved back and forth. The operator continues to instill small amounts of saline solution, allowing the evacuation of gas and liquid stool through the tube.

  • Children with Hirschsprung disease have a very serious intestinal dysmotility disorder. This means that an enema may aggravate the condition rather than help since there is no capacity to expel the infused volume of fluid. With an irrigation, the patient benefits from the evacuation of the rectosigmoid contents through the lumen of the large tube as the distal obstruction is overcome by the tube.

  • HAEC may occur with prolonged abdominal distension and fecal stasis. The stasis leads to bacterial overgrowth, which leads to bacterial translocation and secretory diarrhea. HAEC can result in hypovolemia, endotoxin-related shock, and sepsis, making prompt treatment crucial as it is the leading cause of death in Hirschsprung disease.[11][12][13]​ HAEC must be suspected clinically. See Diagnostic Criteria. Bowel irrigation with saline solution is an extremely valuable procedure for the emergency management of HAEC.[11]​ By decompressing the bowel, the procedure may dramatically improve a very sick infant. These patients should also receive intravenous fluids and antibiotics (e.g., metronidazole). Initially, children are kept nothing by mouth (NPO) until they begin to improve. In older children, oral antibiotics can be given when they begin to improve and when they are no longer NPO.

Bowel diversion

  • Colostomy or ileostomy is necessary if a child is sick with intractable HAEC, bowel perforation, or abdominal distension unresponsive to irrigations.[27]

  • An ileostomy or right transverse colostomy is a safe and effective method for decompressing the colon. This is a particularly useful option in emergency situations, for instance if there are no pediatric pathologists available to define the exact level of the transition zone (where circumferential ganglion cells are identified). By using this location for the stoma, the risk of the error of opening the colostomy in an aganglionic area is much reduced. A particular advantage is that the left side of the colon remains untouched, allowing for a future resection of the aganglionic segment and pull-through of the normal ganglionic colon. The disadvantage is that it commits the surgeon to a 3-stage procedure.

  • Alternatively, a leveling colostomy can be performed. This is a colostomy placed at the start of the ganglionic portion of the colon, and where there are also no hypertrophic nerves. This obligates the surgeon to pull the colostomy down at the time of the definitive repair, depriving the patient of the protection of a proximal diversion. The advantage of this approach is that the child will require only a 2-stage procedure.

  • A diverting stoma should also be considered in very sick, low birth-weight newborns or those suffering from associated defects or concomitant serious medical conditions. Such individuals may benefit from an initial fecal diversion.

Definitive surgery

  • Patients typically are recommended to undergo a definitive primary transanal only or a laparoscopic surgical procedure without a preceding colostomy.[60][61][62][63]​​ The advantage of these procedures is to limit the number of operations (i.e., colostomy creation and closure) and to avoid related potential morbidity. Several published reports have demonstrated that there is no difference in rate of complications associated with neonatal surgery when a protective colostomy is not employed.[64][65][66]​​ The procedure can also be delayed up to 2-3 months while the patient is primarily managed with irrigations.[1][67][68]​​​​

  • There are several types of operations that are employed, all of which follow the basic surgical principle of removing the aganglionic segment and pulling through normal ganglionic bowel.[2] There are three main technical options for the pull-through procedure:[69][70]

    • The Swenson operation is a full-thickness excision of the rectum and remaining aganglionic bowel.[63][71][72][73]​ The original description involved entering the abdomen through a Pfannenstiel, hockey-stick incision, followed by a full-thickness dissection of the aganglionic sigmoid and rectum.[74] This whole procedure can now be done through a transanal approach.[63][73][75][76] The abdominal incision can be avoided in many cases or replaced with laparoscopy. The occurrence of fecal and urinary incontinence, as well as erectile dysfunction, which was felt to be due to nerve injury provoked during aggressive rectal dissection, prompted the development of the Yancey-Soave and Duhamel procedures in an attempt to avoid those complications.​​​

    • The Yancey-Soave procedure includes the resection of the mucosal layer of the distal bowel (endorectal resection) leaving intact a seromuscular cuff and pulling through the normal ganglionic colon inside the cuff.[77][78]​​ Theoretically, this minimizes the risk of potential injury to important neighboring pelvic structures during rectal dissection.[69][79]

    • The Duhamel procedure involves normal (i.e., ganglionic) intestine (usually above the most dilated portion) being pulled through a presacral space that has been created by blunt dissection and connecting this lumen to the original rectum left in its anterior position.[80] It avoids the extensive pelvic dissection required in the Swenson operation by preserving the distal aganglionic rectum, dividing the bowel at the peritoneal reflection as distally as possible. The rectal stump is then closed and the normal ganglionic colon is pulled through a presacral path and anastomosed to the posterior wall of the rectum, above the pectinate line.[70] A wide window is created with a stapler between the posterior rectal wall and the anterior wall of the normal ganglionic bowel. The fact that the anal canal is not disturbed likely contributes to the very low incidence of fecal incontinence; however, the Duhamel “pouch” (aganglionic rectum) often becomes dilated which leads to severe constipation.​​ 

  • To determine the portion of colon to be pulled through, full-thickness biopsies are taken and sent for pathologic examination, looking for ganglion cells and the absence of hypertrophic nerves (at least 40 micrometers thick). The biopsy must be a full-thickness specimen, including submucosa (it is possible to have ganglion cells in the muscularis layer and hypertrophic nerves in the submucosa).[35] If there are no ganglion cells past the splenic flexure, biopsies should be sent of the entire colon and an ileostomy performed, as these patients are considered to have long-segment disease. If proceeding with a pull-through, the anastomosis should be 5 cm proximal to the biopsy with ganglion cells.[81] The normal ganglionic bowel is transanally anastomosed to the anal canal 1 cm to 2 cm above the pectinate line. In the majority of patients, the transition zone is located in the sigmoid colon, which makes it possible to repair the entire defect using only the transanal approach without a laparotomy or laparoscopy. However, when the transition zone is located higher or the surgeon does not feel safe in conducting this dissection higher from below, then an open or laparoscopic-assisted procedure is required in order to mobilize the colon. 

  • If bowel diversion had been required, then once the child is well, a reconstruction can be planned. If the colostomy was a leveling colostomy, namely that it was placed proximal to the transition zone, then that colostomy can be pulled through and the distal aganglionic bowel resected. If the colostomy was placed more proximally, or if there was an ileostomy created, a pull-through can be performed using normal ganglionic colon proximal to the transition zone, and then the stoma can be closed at a third stage.

  • Guidelines do not recommend any single pull-through technique over others for short-segment or long-segment disease; all three major surgical approaches have potential advantages and complications.[1]​​[4][27]​​

  • Guidelines recommend one dose of preoperative intravenous broad-spectrum antibiotics; consult local protocols.[27]

Total colonic aganglionosis (TCA)

TCA remains a serious surgical challenge. Irrigations often do not work for patients with TCA because it is difficult to reach the dilated small bowel. The patient will require colonic mapping biopsies and an ileostomy.[1][4][11][59]​​ Definitive surgery (total or subtotal colectomy with ileoanal or coloanal anastomosis) is performed when stoma ostomy output is of a thicker consistency, which typically occurs at around one year old when the child has fully transitioned to solid foods.[1][59]

A 2024 expert consensus on the surgical management of TCA did not favor any single pull-through technique over others, and instead recommends that the technique should be chosen based on the experience of the operating surgeon.[59]​ All three major surgical approaches have potential advantages and complications.[1]​ The most commonly performed surgical procedures used to treat TCA include J pouch with ileoanal anastomosis (JIAA), straight ileoanal anastomosis (SIAA) and the Duhamel technique.[82]

Guidelines recommend one dose of preoperative intravenous broad-spectrum antibiotics; consult local protocols.[27]

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