Hirschsprung Disease

Acknowledgments

The authors would like to acknowledge Jacob C. Langer, MD, not only for his contributions to this chapter in previous editions, but also his significant contributions to this field of study over several decades. We wish him well in his retirement.

Hirschsprung disease (HD), or “congenital megacolon,” is characterized by the absence of ganglion cells in the myenteric and submucosal plexuses of parts of the colon, or in rare cases the entire colon and parts of the small intestine. This leads to pathophysiological changes in the function of the bowel as well as the internal anal sphincter. The net result is a functional bowel obstruction. The first description of this condition was by ancient Hindu surgeons in the Shushruta Samheta, and the first descriptions in the medical literature were from the 17th century. In 1886, Harald Hirschsprung, a pediatrician from Denmark, presented two cases of the condition that ultimately bore his name, and his description was first published in 1888. At that time, most children with congenital megacolon died from malnutrition and enterocolitis. As the underlying pathologic basis of the disease was unknown, surgeons removed the massively dilated proximal bowel and created a colostomy. This was considered palliative surgery, and it was at the time the only hope for survival. Attempts at reanastomosis were uniformly unsuccessful.

Although the absence of ganglion cells in the distal colon of a child with HD was first noted by Tittel in 1901 and subsequent publications repeated this observation, it took many decades for the clinicians caring for these children to become aware of this and understand the implications of this observation. The first recognition of aganglionosis by a surgeon as the cause of congenital megacolon was by Ehrenpreis in 1946. This was followed in 1949 by Swenson’s first description of a successful reconstructive operation for HD based on the removal of the aganglionic segment. Swenson’s operation was originally described and performed without a colostomy; however, technical difficulties in small infants, and the deconditioned and malnourished state in which many children presented, led most surgeons to adopt a multistaged approach with a leveled colostomy as the initial step. In recent years, earlier diagnosis and the use of rectal irrigations to decompress patients and manage enterocolitis, as well as refinements of the operative technique, have resulted in an evolution toward one-stage and minimal-access procedures. These advances have resulted in significantly improved morbidity and mortality in infants with HD.

Incidence and Spectrum of Disease

HD occurs in approximately one in 5000 live births. Approximately 75% of children have a “transition zone” in the rectum or rectosigmoid colon, this is often referred to as short segment disease, although anatomic definitions are more desirable, e.g., rectosigmoid, left colon, hepatic flexure disease. Another 15% have a more proximal colonic transition point, and about 5%–10% have total colonic aganglionosis with variable involvement of the distal small intestine. Very rarely, patients are afflicted with near-total intestinal aganglionosis.

A number of syndromes are associated with HD including trisomy 21, Mowat–Wilson syndrome, Waardenburg syndrome, Bardet–Beidel syndrome, cartilage-hair hypoplasia, congenital central hypoventilation syndrome, Fryns syndrome, multiple endocrine neoplasia (MEN) type 2, and Smith–Lemli–Opitz syndrome (Box 32.1 ).

Box 32.1

Congenital Anomalies and Conditions Commonly Associated with Hirschsprung Disease

Down syndrome (trisomy 21)
Neurocristopathy syndromes
- Waardenberg–Shah syndrome
- Yemenite deaf-blind-hypopigmentation
- Piebaldism
- Other hypopigmentation syndromes
Goldberg–Shprintzen syndrome
Smith–Lemli–Opitz syndrome
Multiple endocrine neoplasia 2
Congenital central hypoventilation syndrome (Ondine’s curse)
Isolated congenital anomalies
- Congenital heart disease
- Malrotation
- Urinary tract anomalies
- Central nervous system anomalies
- Other

Etiology and Genetic Basis of Disease

Ganglion cells are derived from the neural crest. By the 13th post-conception week, the neural crest cells have migrated from proximal to distal throughout the gastrointestinal tract. This is followed by differentiation and maturation into functionally mature ganglion cells. There are two established theories as to why this process is abnormal in children with HD. The first is that the neural crest cells never reach the distal intestine due to early maturation or differentiation into ganglion cells. Data supporting this theory come from animal models showing spontaneous aganglionosis ^, and from studies of normal neural crest cell migration performed in chick embryos and human fetuses. ^, The second possibility is that the neural crest cells reach their destination, but fail to survive or differentiate into ganglion cells due to a hostile microenvironment. ^, It is likely that HD is actually a heterogeneous group of diseases with multiple genetic causes and etiologies.

Ganglion cells produce local nitric oxide which relaxes enteric smooth muscles and plays a crucial role in effective peristalsis. Aganglionosis of the bowel leads to loss of colonic motility and functional obstruction, necessitating resection of the affected segment of colon with pull-through of normally ganglionated bowel to the anal canal. Aganglionosis of the internal anal sphincter, which is preserved during surgery, contributes to a lack of sphincter relaxation at the time of rectal distention, which can be characterized as a loss of the recto-anal inhibitory reflex (RAIR), and can lead to persistent obstructive symptoms or enterocolitis despite a successful pull-through.

A genetic basis for HD has long been suggested due to a family history in many cases and the known association with trisomy 21 and other genetically based conditions. Recently, significant progress has been made identifying the complex array of genetic mutations and mechanisms responsible for this disease. ^, The first and most common gene to be identified is the RET protooncogene, which encodes a tyrosine kinase receptor. Many mutations of this gene and related genes, such as neurturin and glial cell line-derived neurotrophic factor ( GDNF ), have been described. The mechanism for the development of aganglionosis from these defects remains elusive, but there is evidence that early neuronal cell death may be a prominent mechanism. ^, RET abnormalities are mostly found in patients with familial and long-segment involvement. Mutations in the endothelin family of genes, particularly endothelin-3 and the endothelin-B receptor, are also associated with HD. Many of these children have other neurocristopathies such as dysfunction of melanocytes, congenital deafness, and central hypoventilation. From animal models, there is evidence that mutations in the endothelin and SOX-10 genes may produce early maturation or differentiation of neural crest cells, which decreases the number of available progenitor cells and prevents the neural crest cells from migrating any further. ^, Other genes associated with HD include S1P1 (now known as ZFHX1B ), Phox2B , and the Hedgehog–Notch complex.

Clinical Presentation and Diagnosis

Prenatal diagnosis of HD is extremely rare and usually only seen in total colonic disease which may manifest with ultrasound (US) findings of fetal intestinal obstruction. Most affected patients present during the neonatal period with abdominal distention, bilious vomiting, and feeding intolerance. There can also be explosive expulsion of gas and liquid stool after digital rectal examination. Delayed passage of meconium beyond the first 24 hours is present in approximately 90%. Occasionally, cecal or appendiceal perforation may be the initial event. Plain radiographs characteristically show dilated, gas-filled bowel loops throughout the abdomen. The presentation is that of a distal bowel obstruction in a neonate.

A thorough clinical examination will exclude an anorectal malformation. The next step is a contrast enema using a water-soluble material rather than barium, as the enema potentially may be a definitive treatment for other conditions in the differential diagnosis, such as meconium ileus and meconium plug syndrome. The pathognomonic finding of HD is a transition zone between the normal and aganglionic bowel on contrast enema (Fig. 32.1 ). In children with rectosigmoid disease, this finding is seen on the lateral view. The reversed rectosigmoid ratio demonstrates a rectum which is narrower than the sigmoid colon. However, absence of a radiographic transition zone does not rule out HD as approximately 10% of neonates with HD may not have a radiologically demonstrable transition zone. Occasionally, false-positive studies occur. It is also important to obtain a plain radiograph 24 hours later. Retention of the contrast is very suggestive of HD (Fig. 32.2 ). Once the diagnosis of HD is suspected, it must be confirmed by rectal biopsy, which in the neonate can be done at the bedside without sedation.

A lateral radiographic image shows contrast-filled distended stomach and duodenum with tapering at the proximal jejunum, suggestive of partial small bowel obstruction in a neonate. The lateral radiographic image depicts the upper abdomen of a neonate following contrast administration via a feeding or nasogastric tube. The contrast outlines a markedly distended stomach and duodenum, forming a characteristic C-shaped loop. The proximal jejunum appears less distended, with an abrupt transition zone indicating narrowing. The vertebral column is visible in the background, confirming lateral orientation. There is no contrast reflux into the esophagus or free intraperitoneal air. — Fig. 32.1

A contrast enema radiographic image shows a markedly dilated rectum and sigmoid colon with abrupt narrowing at the distal colon, suggestive of Hirschsprung disease. The contrast enema radiographic image demonstrates the lower abdomen of a neonate or infant. A catheter has been inserted rectally, and water-soluble contrast outlines the large intestine. There is a markedly dilated rectum and sigmoid colon, forming a funnel-shaped or reversed rectosigmoid ratio. The contrast sharply narrows in the distal colon, producing a transition zone where the normal ganglionated colon ends and the aganglionic segment begins. The proximal colon remains distended, while the distal segment appears narrow and spastic. No evidence of contrast reflux into the small bowel or perforation is noted. — Fig. 32.2

Patients presenting later in childhood have severe chronic constipation. As constipation is common in children, it can be difficult to differentiate HD from other causes. Clinical features pointing to the diagnosis include delayed passage of meconium at birth, failure to thrive, abdominal distention, and dependence on enemas without significant encopresis. Although a contrast enema usually demonstrates a transition zone in older children, one can be misled due to massive rectal distention in combination with a very short aganglionic segment. Reversal of the usual rectosigmoid ratio and retention of contrast on a 24-hour post-evacuation film also support the diagnosis. Anorectal manometry is another useful screening technique, in which the presence of a recto-anal inhibitory reflex (RAIR), consisting of reflex relaxation of the internal anal sphincter in response to balloon distention of the rectum, essentially rules out HD (Fig. 32.3 ). Since suction rectal biopsies are less reliable in older children due to sampling error, a full-thickness biopsy under general anesthesia is therefore necessary, and performing anorectal manometry may be a better first step in the diagnostic pathway for these children. The presence of a clear RAIR in this situation effectively excludes HD; however, absence of an RAIR may represent a false-positive test, especially in an awake patient, or may be present in another condition called internal sphincter achalasia. Manometry should be followed by a rectal biopsy when the RAIR is abnormal. This can be performed under the same anesthetic with adequate planning.

A pair of rectoanal manometry recordings compares normal and abnormal reflex responses, showing repeated reflex relaxation and absence of reflex activity. The pair of rectoanal manometry recordings is labeled A and B. Panel A displays a normal rectoanal inhibitory reflex response with three distinct episodes of rectal distension, each followed by a pressure drop in the anal sphincter region. These repeated decreases in pressure signify normal reflex relaxation in response to rectal balloon inflation. The rectum is positioned above the anal sphincter region, and reflex events are labeled as R A I R. In contrast, panel B shows a pathological pattern. Despite repeated rectal distension events, the anal sphincter pressure remains unchanged, indicating absence of reflexive relaxation. The region labeled as rectum lies above the segment marked anal sphincter, and one event is annotated as absent R A I R. — Fig. 32.3

Approximately 10% of neonates with HD present with fever, abdominal distention, and diarrhea due to Hirschsprung-associated enterocolitis (HAEC), which can be life-threatening. The patient becomes very dehydrated and hypovolemic, and the stasis of stool leads to bacterial overgrowth and then bacterial translocation and sepsis. Since HD characteristically causes constipation, the presentation with fever and diarrhea may be confusing and the diagnosis of HD may not be considered. A careful history should lead to an investigation for HD.

The gold standard for the diagnosis is the absence of ganglion cells in the submucosal and intermyenteric plexuses on histologic examination (Fig. 32.4A ). Most patients will also have evidence of hypertrophied nerve trunks (Fig. 32.4B), although this finding is not always present, particularly in children with either total colonic or long segment colonic disease. As there is normally a paucity of ganglion cells in the area 0.5–1.0 cm above the dentate line, the rectal biopsy should be taken ≥1.0–1.5 cm above it. However, a biopsy taken too proximally may miss a short aganglionic segment. In addition to hematoxylin and eosin (H&E), many pathologists also stain rectal biopsies further with either acetylcholinesterase, which has a characteristic pattern in the submucosa and mucosa in children with HD (Fig. 32.5 ), or calretinin (present when there are ganglion cells nearby), which is almost always absent in patients with HD (Fig. 32.6 ). Fig. 32.7 shows our pathologic algorithm for rectal biopsies in children with suspected HD.

Fig. 32.4

Histologic findings. (A) Demonstration of normal ganglion cells.(B) Absence of ganglion cells in the myenteric plexus. (C) Hypertrophied nerve trunks are marked with arrows .

A pair of stained tissue panels shows differences in nerve fiber presence, with one side lacking visible staining and the other showing prominent neural labeling near the submucosa. The pair of stained tissue panels presents histologic views labeled A and B, comparing stained sections for ganglionic evaluation. Panel A shows a tissue section with a diffuse cellular arrangement where ganglion cells and nerve fibers are not distinctly labeled. The mucosal and submucosal regions appear loosely defined, and cellular detail lacks any prominent fiber structure. Panel B contrasts this by showing a similarly oriented tissue section where the submucosa and muscular layers display numerous darkly stained nerve fibers arranged in organized bundles extending longitudinally. The mucosal layer at the top is intact, and the neural elements are clearly visualized. — Fig. 32.5

A histologic pair shows one section with distinct nerve fiber staining in the submucosa, while the other section lacks visible nerve structures in comparable regions. The histologic pair displays two stained sections labeled A and B, used to compare neural tissue presence. Panel A reveals a tissue section with numerous stained nerve fibers scattered across the submucosa, visible as elongated and branching structures between the loosely packed connective tissue. The epithelial surface appears intact above the submucosa. Panel B shows a corresponding section from a different sample, with similar epithelial morphology, but with an absence of visible nerve fiber staining in the underlying submucosal tissue. — Fig. 32.6

A flowchart outlines steps to confirm or rule out Hirschsprung disease based on ganglion presence, mucosal adequacy, nerve trunk hypertrophy, enzyme staining, and calretinin results. The flowchart presents a diagnostic algorithm for evaluating Hirschsprung disease based on rectal biopsy results. The process begins by determining if ganglion cells are present. If yes, it concludes as not Hirschsprung disease. If no, the pathway checks for the presence of colorectal mucosa. A negative result here leads to a conclusion of inadequate biopsy. If mucosa is present, the next step evaluates whether the submucosa is adequate in more than fifty levels. If not, the biopsy remains inadequate. If adequate, the flow proceeds to assess whether hypertrophic nerve trunks are present. If absent, the path leads to an inconclusive biopsy and prompts a repeat biopsy if clinical suspicion remains. If nerve trunks are present, it checks whether acetylcholinesterase staining is increased. If not, it remains inconclusive with a clinical note suggesting very short segment Hirschsprung disease. If staining is increased, calretinin immunohistochemistry results are reviewed. A negative calretinin result confirms Hirschsprung disease. Notes in boxes emphasize diagnostic uncertainty in very short or long segment cases and reinforce the need for further biopsy if clinical suspicion persists. — Fig. 32.7

Preoperative Preparation

Once the diagnosis of HD is made, the child should be appropriately resuscitated with intravenous fluids and treated with metronidazole if there are any signs of enterocolitis. Naso-gastric drainage may be required depending on the clinical context, but rectal irrigations are the most crucial aspect of the initial care for Hirschsprung patients and should be initiated and parents or caregivers should be taught the appropriate technique while a full workup is performed. Patients with associated abnormalities such as cardiac disease or congenital central hypoventilation syndrome must be thoroughly evaluated prior to operative correction.

Once the infant or child has been resuscitated and stabilized, a trial of irrigations while increasing enteral intake can be initiated. This allows parents to establish feeding with either human milk or formula and together with irrigations allows them to establish an empowered care relationship with their child. Some patients cannot be maintained on a full enteral diet while receiving twice to three times daily irrigations, and this is usually an indication that a longer segment of colon may be involved. This group of patients may benefit from leveling and diversion. If the patient tolerates feeds and remains decompressed with irrigations, a primary pull-through operation (i.e., without prior colostomy or ileostomy) can be considered. The timing of the primary pull-through operation varies with one-third to half of centers in the US and Western Europe performing pull-through in the neonatal period versus delayed pull-through after several months. Recent data suggest there are no differences in outcomes in infants undergoing primary pull-through in the newborn period versus delayed pull-through in experienced centers.

Children presenting with a new diagnosis of HD beyond 6 months of age will tend to have a more dilated proximal colon due to longstanding obstruction related to the delayed presentation. The large size of the colon and resultant size mismatch with the anal canal where the anastomosis will be performed can increase the risk of an anastomotic leak. To allow the colon to regain its normal caliber, an extended period of irrigations might be needed or in some cases a leveling colostomy or ileostomy should be the initial treatment with definitive pull-through after several months when the colon caliber decreases.

Historically, some physicians have advocated for a nonoperative long-term management of short-segment HD using enemas and laxatives. Others have suggested that myectomy may be adequate. However, these approaches do not provide a good quality of life for most infants and children with HD, and myectomy has the risk of causing long-term incontinence. Thus, these approaches should be avoided.

Surgical Management

Leveling Colostomy or Diverting Ileostomy

Diversion is indicated for patients with severe enterocolitis, perforation, malnutrition, or a very dilated proximal bowel which would preclude a safe anastomosis. If a contrast enema has been performed, it should be reviewed preoperatively, to evaluate for the potential transition zone to guide intraoperative exploration. Using laparoscopy enables improved visualization and the ability to detect a transition zone. After entry via an umbilical port, two ports are placed in the right abdomen. The camera can be moved to the right upper quadrant to improve visualization of the lower abdomen and pelvis. The rectum and sigmoid are evaluated for a transition zone. The aganglionic bowel will appear small and spastic and the proximal ganglionated bowel will be dilated. If no obvious transition zone is noted, a biopsy of the mid-sigmoid colon is a good starting point. We recommend full-thickness biopsy to allow identification of hypertrophic nerves in the submucosa which are unavailable for pathologic assessment if only a seromuscular sample is taken. To perform this, the bowel is grasped and delivered through the umbilical incision. After placing stay sutures, a full-thickness biopsy is obtained sharply, ideally in the shape of a cube so that the mucosal surface and the seromuscular surface are the same size. This allows the pathologist to correctly orient the specimen. The colotomy is closed. If there are no ganglion cells present, a biopsy is taken more proximally and the next point to sample is the proximal sigmoid followed by the descending colon. Once ganglion cells are identified, the left colon and splenic flexure are mobilized if needed, taking care to preserve the blood supply, and an end colostomy with Hartman’s pouch is created. It is important to ensure the colostomy is out of the transition zone, which would be marked by submucosal hypertrophic nerves. A final circumferential biopsy can be taken at the site of the end colostomy to confirm normal ganglion cells and an absence of hypertrophic nerves prior to fashioning the ostomy. The proximal end of the Hartman’s pouch should be tagged to the anterior abdominal wall with permanent suture to facilitate the future pull-through procedure.

In the case where ganglion cells are absent up to the splenic flexure, it is not advisable to continue with frozen section pathology for evaluation of ganglion cells. The more proximal parts of the colon do not receive innervation from the sacral plexus, and therefore there are usually no hypertrophic nerves in the transverse colon or more proximally. This can make interpretation of these biopsies more challenging and permanent section is needed. A false-negative result in this circumstance may lead to the unnecessary resection of a large amount of colon. When ganglion cells are absent up to the splenic flexure, an ileostomy should be created with full-thickness biopsies obtained in the ascending and transverse colon for permanent pathology. It is still advisable to confirm the presence of ganglion cells at the ileostomy with frozen section pathology as the aganglionosis in cases of total colonic HD can extend into the terminal ileum, and even more proximal in very rare cases.

When considering the surgical reconstruction for Hirschsprung disease it is important to understand the physiological derangement requiring remedy. The goals of surgical management for HD are to remove the aganglionic bowel (area of no effective peristalsis) and reconstruct the intestinal tract by bringing the normally ganglionated bowel down to just proximal to the anal canal while preserving sphincter function and anal canal sensation. The most commonly performed operations are the Swenson, Duhamel, and Yancey–Soave procedures, although a number of other operations, such as the Rehbein and State procedures, have been described and may still be performed in a few centers. As there are very few prospective studies comparing operations, the best operation for an individual patient is the one that the surgeon has been trained to do and does frequently. In each case some amount of HD is “left behind.” In the case of a Duhamel, the original rectum is left intact and joined to the ganglionated pull-through. In a Yancey–Soave procedure, the outer wall of the original rectum is left behind as a cuff. In the Swenson procedure the 1 cm of columnar epithelium proximal to the dentate line is kept.

Although Swenson’s operation was initially developed as a one-stage procedure, the relatively high incidence of stricture, leak, and other adverse outcomes led to the adoption of a routine preliminary colostomy, with definitive pull-through performed 3–12 months later. In the 1980s, a number of surgeons reported series of single-stage pull-through operations even in small infants. Over the following 10–15 years, many reports suggested that a one-stage approach was safe, avoided the morbidity of stomas in infants, and was more cost effective. However, as stated above, a stoma may still be needed under certain circumstances.

Pull-Through for Rectosigmoid HD

A primary pull-through is indicated and appropriate for patients with an established diagnosis of HD and none of the contraindications mentioned previously for which a diversion is the appropriate step. In small infants, rectal irrigations alone are adequate to evacuate patients prior to the pull-through. Older patients will require a mechanical bowel preparation and oral antibiotics to prevent contamination and reduce the risk of infection.

Minimally invasive techniques are now widely practiced in pediatric surgery units worldwide. Georgeson originally described the minimally invasive procedure as a laparoscopic-assisted Yancey–Soave technique in 1995 (Figs. 32.8–32.12 ); however, laparoscopic approaches have also been used for the Duhamel and Swenson operations, with excellent results. ^,

An anatomical illustration shows the large intestine reflected medially to reveal posterior peritoneal structures and the underlying retroperitoneum, including vascular attachments and muscle layers. The illustration presents an anatomical dissection of the large intestine, specifically showing the colon reflected medially to expose the underlying retroperitoneal structures. The ascending and descending colon segments are mobilized to reveal the posterior abdominal wall, including peritoneal reflections and vascular branches. The mesocolon is outlined with dashed lines. The exposed retroperitoneal area includes the posterior muscular wall with visible muscular fibers. A suture is shown securing an upper muscular structure. The sigmoid colon and rectum remain in their anatomical positions, and the curvature of the colon and haustral patterns are preserved in the illustration. — Fig. 32.13

A three-part illustration shows a perineal surgical approach with suture placement and electrocautery near the anal verge, alongside a sectional view of the anorectal anatomy. The three-part illustration of two clinical views and one anatomical illustration, labeled A, B, and C, represents a perineal surgical approach to the anorectal region. In panel A, the perineal view shows multiple radial sutures placed around the anal opening of a pediatric patient, with exposed tissue at the center. Panel B provides a sectional anatomical diagram of the rectum and anal canal, illustrating layers of internal and external sphincter muscles, the rectal mucosa, and surrounding structures. In panel C, an electrocautery device is applied to the center of the suture ring as a surgeon manipulates tissue using forceps, indicating dissection or resection. — Fig. 32.14

A four-panel sequence shows initial incision and dissection in a transanal approach to treat anorectal obstruction in a pediatric patient, highlighting tissue exposure and retraction steps. The four-panel sequence, labeled A to D, shows stages of a pediatric transanal pull-through procedure for treating anorectal obstruction. Panel A shows the perineum prepared and draped, with the anal canal exposed using retractors and a surgical marking on the anal verge. Panel B reveals the mucosal incision site with circumferential electrocautery incision begun and a retractor exposing the anal canal. Panel C displays progressive dissection along the rectal wall, with the electrocautery instrument separating tissue layers while retractors maintain exposure. Panel D captures deeper mobilization of the rectal segment, with multiple instruments involved in traction, dissection, and visualization of the distal rectum. — Fig. 32.16

A surgical series shows steps in the Swenson pull-through procedure with diagrams of mobilized ganglionated bowel, rectosigmoid eversion, and final anastomosis with pelvic structures. The surgical series presents three panels labeled A, B, and C illustrating the Swenson pull-through procedure for Hirschsprung disease. Panel A shows a segment of proximal ganglionated bowel being mobilized and prepared for anastomosis, with the distal end showing an everted rectosigmoid stump. Surgical instruments are positioned to guide the resection. Panel B depicts the next step, where the proximal bowel is brought down and aligned with the rectal cuff. Sutures are placed circumferentially at the anastomotic site to secure the connection between the ganglionated bowel and the rectal stump. Panel C provides a simplified schematic of the completed anastomosis. It illustrates the restored bowel continuity with the new segment passing through the sphincter complex and integrating into the pelvic floor. — Fig. 32.8

A surgical series shows stages of the Yancey or Soave pull-through with diagrams of a rectal cuff, mobilized colon, and schematic of endorectal dissection and bowel anastomosis. The surgical series presents three panels labeled A, B, and C illustrating the Yancey or Soave pull-through procedure for Hirschsprung disease. Panel A shows the everted distal rectum with the mucosal layer removed, revealing the rectal muscular cuff. The view centers on the exposed rectal tube after mucosal dissection and eversion. Panel B provides a sagittal view of the pelvis, showing the preserved muscular cuff of the rectum with the ganglionic colon mobilized above and pulled through within the cuff. The muscular sleeve remains intact and lines the path of the descending bowel. Panel C is a schematic representation of the procedure, depicting a tubular segment of ganglionic bowel passed through the rectal muscular cuff and sutured near the anal canal. The preserved muscular sleeve is shown shaded, and the new segment of colon is shown. — Fig. 32.9

A two-part illustration shows the Duhamel pull-through procedure with retrorectal passage of ganglionated colon and a schematic of side-to-side anastomosis behind the aganglionic rectal stump. The two-part illustration labeled A and B represents the Duhamel pull-through technique for Hirschsprung disease. Panel A provides a sagittal surgical view of the pelvis, where a ganglionated segment of colon is pulled down in a retrorectal position behind the aganglionic rectal stump. The mobilized bowel is positioned adjacent to the posterior wall of the rectum. Surgical instruments guide the passage of the colon while maintaining proximity to the spine and pelvic structures. Panel B is a schematic drawing showing the configuration after anastomosis. The aganglionic rectum is displayed as a thin anterior tube, while the ganglionated bowel lies posteriorly. The two lumens are joined in a side-to-side manner with a stapled or sutured septotomy, forming a common chamber. — Fig. 32.10

A two-part illustration shows a diagram of surgical team positions around a child and a clinical view of laparoscopic port placement in a pediatric patient during minimally invasive surgery. The two-part illustration, labeled A and B, shows an operating room setup and intraoperative positioning for pediatric laparoscopic surgery. Panel A shows a schematic overhead view of the operating room. A child is drawn in the supine position on an operating table with a monitor placed to one side labeled M. Around the table are outlined positions of the surgical team assistant A to the right of the child, scrub nurse S N at the lower left, surgical assistant in charge S A/ C and surgeon S at the head of the surgical table. Panel B shows a real intraoperative scene of a pediatric patient in the supine position. Multiple laparoscopic ports are inserted in the lower abdomen. Three gloved surgeons manipulate instruments and endoscopic devices through the ports. — Fig. 32.11

A two-part surgical view shows laparoscopic dissection of the rectosigmoid colon in one panel and retrieval of the mobilized segment through an umbilical incision in the other panel. The two-part surgical view contains panels labeled A and B that depict stages of a laparoscopic pull-through procedure for Hirschsprung disease in a pediatric patient. Panel A shows an intra-abdominal endoscopic view where laparoscopic graspers are holding and dissecting the mesenteric attachments of the rectosigmoid colon. The peritoneal surface and surrounding structures are visible, with focused dissection of the distal bowel. Panel B presents an external clinical view of the infant's abdomen. A gloved surgeon uses forceps to extract the mobilized bowel segment through an umbilical port site. The umbilicus is centrally exposed with two laparoscopic ports flanking the incision. The procedural setup demonstrates a minimally invasive approach where the ganglionic bowel is delivered for resection and anastomosis through a transumbilical access point. — Fig. 32.12

Laparoscopy greatly enhances the surgical management of HD. It allows improved visualization and the ability to detect a transition zone. Similar to the technique described above for a diversion, after entry via an umbilical port the rectum and sigmoid are evaluated for a transition zone. If no obvious transition zone is noted, a biopsy of the mid-sigmoid colon is performed. If there are no ganglion cells present, a biopsy is taken of the proximal sigmoid colon followed by the descending colon. Patients with aganglionosis extending proximal to the splenic flexure will require a derotation, described in the next section. If there are no ganglion cells found in the sigmoid or left colon, the surgeon should not perform the pull-through that day but should wait for permanent pathologic evaluation. The final pull-through level should have ganglion cells and no hypertrophic nerves (<40 microns in diameter). The colon is then mobilized if needed, taking care to preserve the blood supply.

For the definitive pull-through, the mesentery of the aganglionic bowel is divided with a cautery or sealing device. The dissection is carried circumferentially around the rectum, staying on the bowel wall to reduce the risk of injury to other structures. The dissection is carried down to at least the levator muscles and if safe to do so, more distally. Once the entire aganglionic bowel is mobilized, the proximal pull-through segment is pulled down into the pelvis to assess for adequate mobility. Adequate reach is achieved by dividing the lateral attachments of the descending colon and sometimes the attachments of the splenic flexure. In addition, attention should be turned to the blood supply of the pull-through. The blood supply may need to be carefully divided utilizing marginal vessels to allow the colon to be pulled through with good perfusion and without any tension.

After completing the abdominal mobilization, the transanal portion of the operation is commenced by placing the patient in the lithotomy or prone position. A Lone Star retractor can be used for exposure by placing the hooks initially in the anus to expose the dentate line and then advancing sequentially until the dentate line is protected.

Swenson Procedure

The goal of the Swenson pull-through is to remove the entire aganglionic colon, with an end-to-end anastomosis above the anal canal and sphincter. The operation originally required a laparotomy, with the anastomosis being performed from the perineum after everting the aganglionic rectum (Fig. 32.13). It is important to keep the dissection in the correct plane along the rectal wall to avoid injury to the pelvic nerves, vessels, and other structures such as the vagina, prostate, vas deferens, and seminal vesicles. Despite the historical risks inherent in the deep pelvic dissection (likely done too wide from the rectum), when done correctly the long-term functional outcomes after the Swenson procedure are excellent.

Yancey–Soave Procedure

A procedure using a submucosal dissection was introduced by Franco Soave in 1962. The original purpose was to limit damage to adjacent structures while bringing the ganglionic bowel down, which at the time was a Swenson pull-through. The operation was subsequently modified by Boley, who performed a primary anastomosis rather than a delayed one. However, Asa Yancey first described this procedure more than 10 years before Soave, in 1952. For many years he was not credited for his work, as it was published in a journal that was not carried by most predominately white institutions at the time. To correct that historical injustice, the procedure is now known as the Yancey–Soave technique. It was originally described as a transabdominal procedure. A submucosal dissection was performed in the pelvis to avoid the risk of injury to adjacent structures. The submucosal endorectal dissection avoided the plane outside of the rectum and positioned the pull-through bowel within an aganglionic muscular “cuff” (Fig. 32.14). Once the pull-through was completed, the muscular cuff was split to prevent obstruction, and then sutured to the pull-through to prevent it from rolling down and causing an obstruction.

A transanal approach was first described by de la Torre and Ortega in 1998 and by Langer et al. in 1999, and has been adopted and reported by an increasing number of surgeons. The operation can be performed in the prone or lithotomy position. A mucosal incision is made 0.5–1.0 cm above the dentate line, depending on the size of the child, and the mucosa is stripped from the underlying muscle as in the Yancey–Soave operation. The length of the submucosal dissection varies, although a shorter rectal cuff may be associated with a lower incidence of enterocolitis and the need for dilatations. Significantly, the cuff became shorter and shorter with the transanal dissection to make the dissection more manageable and to avoid a long cuff. At this point most surgeons who employ a Yancey–Soave technique use a cuff of between 2 and 4 cm in length. A very short cuff limits the technique’s benefit of protecting pelvic structures, and thus many surgeons have gone back to the initial technique, the Swenson, and use a full-thickness dissection from the start. Some authors have also described a hybrid procedure in which they perform an endorectal pull-through in the standard fashion but then resect the posterior half of the cuff to prevent obstructive symptoms.

After the submucosal dissection, the rectal muscle is incised circumferentially, and the dissection is continued on the rectal wall, dividing the vessels as they enter the rectum. When the transition zone is reached, the anastomosis is performed from below (Fig. 32.15 ). Laparoscopy or a small umbilical incision is used if the descending colon and/or splenic flexure need to be mobilized to achieve an adequate length of ganglionated colon for pull-through. A transanal approach can also be used if the patient has already had a colostomy by using the stoma as the end of the pull-through bowel and performing the rectal excision using the transanal approach.

A sequence of four surgical views shows rectal pull-through with mucosal eversion, electrocautery dissection, suture placement, and postoperative perineal closure in a pediatric patient. The sequence of four surgical views, labeled A to D, illustrates stages of a pediatric anorectal surgical procedure. Panel A shows a fully everted rectal segment protruding through the anal verge with radial sutures anchoring the mucosa, an arrow indicates a suture or transition site on the prolapsed segment. Panel B captures the use of electrocautery on the mucosal surface during dissection, with anchoring sutures still in place. Panel C shows further dissection or excision using forceps and scissors, continuing the circumferential resection or mucosectomy while maintaining suture tension. Panel D presents the final postoperative appearance, with the anus restored and sutures positioned around the central site. — Fig. 32.15

There is controversy around whether the histologic transition zone should be defined prior to beginning the anal dissection. This controversy centers on the fact that approximately 8%–10% of children who have a rectosigmoid transition zone on contrast study have a more proximal histologic transition zone. ^, This concern is particularly important for surgeons who perform a different operation for long-segment disease than for rectosigmoid disease or if surgery would be delayed for patients with long-segment colonic or total colonic transition zones. A preliminary biopsy does not have a deleterious effect on postoperative outcomes such as time to feeding, pain, or length of hospitalization. ^, ^, Despite concerns by some that the Yancey–Soave procedure may result in long-term constipation due to incomplete excision of the aganglionic rectum, most late follow-up studies have reported similar outcomes between the Soave and Swenson operations.

Duhamel Procedure

The Duhamel procedure involves bringing the normally ganglionated colon down through the bloodless plane between the rectum and sacrum and joining the two walls to create a new lumen that is aganglionic anteriorly and normally innervated posteriorly (Fig. 32.16). There are surgeons who employ this technique for all patients with HD regardless of the level of normal ganglion cells and others who only use it for cases of total colonic HD. Regardless, the technique entails dissection posterior to the rectum to create space for the pull-through. A transverse incision is made in the posterior rectum above the dentate line. The pull-through is then brought through the pelvis and anastomosed to the transverse colotomy in the rectum. Then, a GIA stapler is placed in the rectum and the pull-through to create the common pouch. The length of the pouch varies amongst surgeons, but most proponents of the Duhamel procedure describe a pouch of between of 6–8 cm in length. To prevent a spur in the pouch, the rectum (anterior) needs to be transected at the level of the top of the pouch. This is usually achieved by opening the rectum and visually confirming the level of the top of the pouch and transecting the rectum. This is often facilitated by a small Pfannenstiel incision. The resultant anastomosis in a Duhamel pull-through is very large, which reduces the risk of stricture. In addition, no anal canal dissection is performed, which ensures preservation of the anal canal. Reported long-term results of the Duhamel procedure have been similar to those with the other two operations, although recent studies suggest that outcomes from the Duhamel procedure are inferior to those of the transanal pull-through. ^,

Longer Segment Aganglionosis

While previously lacking definitions for classification of “long segment disease,” a recent systematic review has helped clarify the terminology. It is preferable to use anatomic definitions such as “descending colon disease” or “right transverse colon transition.” There are three distinct groups of patients with aganglionosis above the sigmoid colon. The first consists of patients with a transition zone in the colon proximal to the splenic flexure, in whom a derotation of the colon is usually required to both allow a tension-free pull-through and prevent the mesenteric vessel to the pull-through from crossing over the duodenum. In this technique, the middle colic vessels are divided, carefully preserving the right colon’s marginal vessels from the ileocolic vessels to the point of ganglionic colon. After performing a Kocher maneuver, the small bowel is derotated to lie in the left abdomen, with the colon in the right abdomen with the pull-through coming down the right pelvis. The pull-through is performed with anastomosis as described above. The technique required is very close to the Deloyers procedure, which is well described, for anastomosing the right colon or transverse colon to the rectum, or for a colo-anal anastomosis.

The second group comprises patients with aganglionosis extending into the terminal ileum within 5 cm of the ileo-cecal valve, known as total colonic disease (Fig. 32.17 ). In rare cases, the aganglionic segment extends into the small intestine. Even more rarely it extends to within 20 cm of the ligament of Treitz: total intestinal aganglionosis. Most neonates with long-segment disease present with a distal small bowel obstruction, although occasionally children with long-segment disease may not present until after weaning from breast milk. The contrast enema typically shows a shortened, relatively narrow “question mark” colon (Fig. 32.18 ). The rectal biopsy shows an absence of ganglion cells, but in many cases, there are no hypertrophic nerves or abnormalities on acetylcholinesterase staining. Using the appendix for the initial biopsy can result in a false-positive diagnosis of total colonic aganglionosis as there may be a paucity of ganglion cells in the appendix in children with shorter segment disease. Thus, a biopsy of the cecum is preferable. In addition, there are many reports of “skip” areas in children with total colonic aganglionosis so that permanent sections are advisable before considering total colectomy. Finally, some surgeons believe that the outcomes following pull-through are better once the stool has thickened, which usually occurs between 6 months and several years of life.

A two-panel view shows resected small bowel with narrowed and dilated segments and intraoperative inspection of dilated loops and a transition zone marked by arrows. The two-panel view, labeled A and B, presents surgical findings of intestinal pathology. Panel A shows a resected small bowel segment placed on a sterile surgical drape. The bowel features a grossly dilated proximal portion tapering into a markedly narrowed distal segment with a sharp transition zone. Arrows mark the dilated, narrowed, and intermediate zones. The distal end appears constricted and likely nonfunctional. Panel B shows an intraoperative view of the bowel loops exposed during abdominal surgery. Surgical forceps elevate a segment of small intestine, revealing dilated proximal loops and a discrete transition zone to a narrowed distal segment, both marked with arrows. The surrounding bowel loops display varying calibers, and sterile barriers line the operative field.

Tags: Holcomb and Ashcraft's Pediatric Surgery, Marc A. Levitt, Richard J. Wood

May 10, 2026 | Posted by drzezo in PEDIATRICS | Comments Off

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