Open Proctocolectomy for Hirschsprung's Disease

Hirschsprung's disease is a congenital disorder with a reported incidence of 1/5000 live births^1,2 with a male preponderance of 3:1–4:1¹; when the entire colon is involved, the ratio approaches 1:1.³ It is the main genetic cause of functional intestinal obstruction. Most cases are diagnosed in the first few months of life given classical presentation and ease of testing with rectal suction biopsy. The disease is due to the absence of enteric ganglion cells in the distal colon that results in functional constipation. Resection of the affected segment and bringing the normal bowel close to the anus has been the mainstay of treatment. Due to advances in surgical treatment over the past decades, a significant reduction in morbidity and mortality has been observed, and the previously multistage procedure can now be completed in one stage without an increase in complication rates.⁴

Hirschsprung’s disease (HD, congenital aganglionic megacolon) is a disorder due to the absence of enteric ganglion cells due to the failure of the neural crest cells during development. It has a reported incidence of 1/5000 live births.² Patients most commonly present with constipation (88.9%), abdominal distention (88.9%), and failure to pass meconium within 24 hours after birth (76.5%).⁵

Patient presentation varies depending on the severity of the disease. Most cases of HD are diagnosed in the neonatal period. Delay or failure to pass meconium is most often the first suggestion about the presence of this disease. 100% of normal full-term neonates will have passed meconium by 48 hours of life⁶, whereas 45–90% of neonates with HD will have failed to pass meconium by 48 hours.^7,8

Patients with less severe disease (short segment HD) may not be diagnosed until later in life. Approximately 10% of cases may be diagnosed after 3 years of age⁹; uncommonly, HD may be diagnosed in adults. 

Patients with HD most commonly present with constipation (88.9%), abdominal distention (88.9%), and failure to pass meconium within 24 hours after birth (76.5%).⁵ Some patients may present with partial/complete bowel obstruction with vomiting (61.1%) being a prominent symptom.⁵ Diarrhea (11.1%) may occur with intestinal obstruction.⁵ Additionally, failure to thrive (16.7%) with weight in the fifth percentile has been noted for patients diagnosed after 2 months of age.⁵

HD often presents with chronic constipation, and abdominal distention may be appreciated on the exam. Classically in neonates, forceful expulsion of stool and gas has been noted after the digital rectal examination (squirt sign). 

When HD is suspected, the initial testing of choice includes obtaining water-soluble contrast (barium) enema radiographs (immediately after injection of contrast and at 24 hours). The transition zone between the normal and aganglionic segment is observed as the narrowing of the distal colon compared to proximal colonic dilation. However, a transition zone is not observed in 10–15% of neonates.¹⁰ A reversed rectosigmoid index and retention of contrast at 24 hours also suggest HD.

Anorectal manometry (the measurement of internal anal sphincter relaxation after rectal distention) is a useful tool for excluding HD with normal study results. Failure of the sphincter to relax is suggestive of HD; however, false positives can occur due to an artifact from external anal sphincter, movement, or crying.

Rectal biopsy with histological examination remains the gold standard for the diagnosis of HD.¹¹ Absence of ganglion cells in the submucosal and myenteric plexus is a definitive finding. A rectal suction biopsy is preferred as it can be performed at the bedside or in an ambulatory setting without the need for general anesthesia. Samples are obtained at least 1–1.5 cm above the dentate line to avoid the region of physiologic hypoganglionosis that is normally present.

Patients with obstruction may present with alternating constipation and diarrhea. Diarrhea may progress to fulminant enterocolitis leading to dehydration, sepsis, and shock. Enterocolitis is a significant complication and raises mortality unless aggressively treated.

Some patients may present with cecal or appendiceal perforation as the initial event.¹²

Patients diagnosed with congenital aganglionic megacolon are surgically treated with resection of aganglionic segments and re-establishing bowel continuity of the normally-innervated bowel to the anus without the disruption of sphincter function. 

Historically, the surgery was conducted as a staged operation with an interval diverting colostomy until bowel continuity was able to be established due to a higher rate of complications including anastomotic stricture and leaks noted with a single-stage procedure. However, with recent improvements in surgical techniques, anesthesia, hemodynamic monitoring, and early diagnosis, single-stage operations can be conducted without an increased risk of complications for patients who present early. With the advent of laparoscopic surgery, minimally invasive surgery has become the standard of care.^13–15

Given that the pathophysiology of the disease is the presence of an aganglionic bowel segment leading to functional constipation, resection of the affected segment with anastomosis of the normal bowel has shown satisfactory results with postoperative continence achieved in up to 91–97.5% of cases.¹⁶

Multiple variations of the pull-through technique exist for the treatment of the disease including Svenson,¹⁷ Soave,¹⁸ and Duhame¹⁹ pull-through (open techniques), as well as laparoscopic and transanal (perineal) pull-through variations.^20,21 Laparoscopic and transanal repairs have recently gained favor due to similar outcomes with the added benefits of earlier resumption of enteral feeds, less pain, shorter hospitalization, and inconspicuous scars.²²

The case presented here is of a 4-year-old male with HD who underwent open proctocolectomy with transanal (perineal) pull-through without complications.

Barring any intraoperative complications or specific patient comorbidities, patients should be extubated in the operating room postoperatively. Most patients can be started on a diet postoperatively and discharged within 24–48 hours without any medications. Our patient in this scenario had a transverse colostomy, hence we were confident about resuming the diet almost immediately after surgery and discharge the patient after 48 hours. Although there is a lack of data supporting the role of prophylactic antibiotics to prevent Hirschprung-associated enterocolitis (HAEC).²³ the patient was discharged with 7 days of antibiotics as it is usually practiced during surgical missions. The anastomosis should be dilated using dilators or finger 1–2 weeks postoperatively, and dilations should continue for 4–6 weeks with a frequency ranging from daily to weekly. Additionally, the application of barrier creams to the buttocks helps prevent wound breakdown. Postoperative complications include bleeding, wound infection, perianal excoriation, anastomotic stricture, enterocolitis, bowel obstruction,²¹ and anastomotic leakage.²⁴

These patients will often require long-term follow-up for identification and treatment of any long-term complications including persistent obstructive symptoms, soiling/incontinence, and enterocolitis. Follow-up with the surgeon is recommended at least until the child is beyond toilet-training years. Most of these problems resolve within 5 years with a majority of patients reporting satisfactory outcomes.²⁵

Constipation: Persistent obstructive symptoms including bloating, vomiting, abdominal distention, and severe constipation may occur in 10–30% of the population after undergoing operative repair.²⁶ This may be caused by mechanical obstruction (e.g. stricture), persistent or acquired aganglionosis, a colonic motility disorder (e.g., intestinal neuronal dysplasia), increased internal anal sphincter tone, or nonspecific colonic dysmotility/stool-withholding behavior.²⁷ Diagnostic workup of this condition includes barium enema with a digital rectal exam with serial dilation (mechanical obstruction), rectal suction biopsy followed by a revision surgery if the biopsy of the anastomosis fails to show any ganglion cells (persistent aganglionosis), and assessment of motility (radiopaque marker study).

Guidelines for the management of postoperative obstructive symptoms in children with HD have been published by the American Pediatric Surgical Association.²⁸

Enterocolitis: Characterized by inflammation of the bowel mucosa that can lead to life-threatening bowel perforation before or after surgery for HD. It is a major contributor to postoperative morbidity and even mortality with an incidence rate of up to 45%.²⁹ It most commonly occurs within the first year of surgical repair.³⁰ Typical presentation includes fever, abdominal distention, leukocytosis, and evidence of intestinal edema on an abdominal radiograph.³¹ Treatment includes broad-spectrum antibiotics, IV fluids, nasogastric drainage with rectal and colonic decompression.

Incontinence: Diarrhea and incontinence are most notable during the early postoperative period with gradual improvement noted over time,^31,32 and a majority of patients (75–95%) reporting less than five stools per day.³³

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