Pediatric Hirschsprung Disease 

Updated: Aug 09, 2016
Author: Holly L Neville, MD; Chief Editor: Carmen Cuffari, MD 

Overview

Background

In 1886, Harold Hirschsprung first described Hirschsprung disease as a cause of constipation in early infancy. Early recognition and surgical correction of Hirschsprung disease protects affected infants from enterocolitis and debilitating constipation.

Intraoperative finding in total colonic agangliono Intraoperative finding in total colonic aganglionosis. Note the decompressed bowel adjacent to the distended colon.

Pathophysiology

Hirschsprung disease results from the absence of enteric neurons within the myenteric and submucosal plexus of the rectum and/or colon. Enteric neurons are derived from the neural crest and migrate caudally with the vagal nerve fibers along the intestine. These ganglion cells arrive in the proximal colon by 8 weeks' gestation and in the rectum by 12 weeks' gestation. Arrest in migration leads to an aganglionic segment. This results in clinical Hirschsprung disease.

Epidemiology

Frequency

United States

Hirschsprung disease occurs in approximately 1 per 5000 live births.

International

Prevalence may vary by region and has been shown to be as high as 1 per 3000 live births in the Federated States of Micronesia.[1]

Mortality/Morbidity

The overall mortality of Hirschsprung enterocolitis is 25-30%, which accounts for almost all of the mortality from Hirschsprung disease.

Sex

Hirschsprung disease is approximately 4 times more common in males than females.

Age

Nearly all children with Hirschsprung disease are diagnosed during the first 2 years of life. Approximately one half of children affected with this disease are diagnosed before they are aged 1 year. A small number of children with Hirschsprung disease are not recognized until much later in childhood or adulthood.

 

Presentation

History

See the list below:

  • During the newborn period, infants affected with Hirschsprung disease may present with abdominal distention, failure of passage of meconium within the first 48 hours of life, and repeated vomiting. A family history of a similar condition is present in about 30% of cases.

  • Nearly one half of all infants with Hirschsprung disease have a history of delayed first passage of meconium (beyond age 36 h), and nearly one half of infants with delayed first passage of meconium have Hirschsprung disease.

  • Unlike children experiencing functional constipation, children with Hirschsprung disease rarely experience soiling and overflow incontinence.

  • Children with Hirschsprung disease may be malnourished. Poor nutrition results from the early satiety, abdominal discomfort, and distention associated with chronic constipation.

  • Older infants and children typically present with chronic constipation. This constipation often is refractory to usual treatment protocols and may require daily enema therapy.

  • Hirschsprung enterocolitis can be a fatal complication of Hirschsprung disease. Enterocolitis typically presents with abdominal pain, fever, foul-smelling and/or bloody diarrhea, as well as vomiting. If not recognized early, enterocolitis may progress to sepsis, transmural intestinal necrosis, and perforation.

Physical

See the list below:

  • Examination of infants affected with Hirschsprung disease reveals tympanitic abdominal distention and symptoms of intestinal obstruction. Individuals in this age group may also present with acute enterocolitis or with neonatal meconium plug syndrome.

  • Children with Hirschsprung disease are usually diagnosed by age 2 years.

    • Older infants and children with Hirschsprung disease usually present with chronic constipation. Upon abdominal examination, these children may demonstrate marked abdominal distention with palpable dilated loops of colon. Rectal examination commonly reveals an empty rectal vault and may result in the forceful expulsion of fecal material upon completion of examination.

    • Less commonly, older children with Hirschsprung disease may be chronically malnourished and/or present with Hirschsprung enterocolitis.

Causes

See the list below:

  • Genetic causes

    • The disease is generally sporadic, although incidence of familial disease has been increasing.

    • Multiple loci appear to be involved, including chromosomes 13q22, 21q22, and 10q.

    • Mutations in the Ret proto-oncogene have been associated with multiple endocrine neoplasia (MEN) 2A or MEN 2B and familial Hirschsprung disease.[2, 3]

    • Other genes associated with Hirschsprung disease include the glial cell-derived neurotrophic factor gene, the endothelin-B receptor gene, and the endothelin-3 gene.

  • Associated conditions

    • Hirschsprung disease is strongly associated with Down syndrome; 5-15% of patients with Hirschsprung disease also have trisomy 21.

    • Other associations include Waardenburg syndrome, congenital deafness, malrotation, gastric diverticulum, and intestinal atresia.

 

DDx

Differential Diagnoses

 

Workup

Laboratory Studies

CBC count: Order this test if enterocolitis is suspected. Elevation of WBC count or a bandemia should raise concern for enterocolitis.

Imaging Studies

See the list below:

  • Plain abdominal radiography: Perform this test with any signs or symptoms of abdominal obstruction.

    Abdominal radiograph demonstrating small bowel obs Abdominal radiograph demonstrating small bowel obstruction and megacolon in infant with Hirschsprung Disease.
    Barium enema demonstrating transition zone. The tr Barium enema demonstrating transition zone. The transition zone shows the transition from dilated, normally innervated bowel to normal caliber, noninnervated bowel.
  • Unprepared single-contrast barium enema: If perforation and enterocolitis are not suspected, an unprepared single-contrast barium enema may help establish the diagnosis by identifying a transition zone between a narrowed aganglionic segment and a dilated and normally innervated segment. The study may also reveal a nondistensible rectum, which is a classic sign of Hirschsprung disease. A transition zone may not be apparent in neonates, because of insufficient time to develop colonic dilation, or in infants who have undergone rectal washouts, examinations, or enemas.

Other Tests

Rectal manometry: In older children who present with chronic constipation and an atypical history for either Hirschsprung disease or functional constipation, anorectal manometry can be helpful in making or excluding the diagnosis.[4] Children with Hirschsprung disease fail to demonstrate reflex relaxation of the internal anal sphincter in response to inflation of a rectal balloon.

Procedures

The definitive diagnosis of Hirschsprung disease rests on histological review of rectal tissue. Obtain tissue either by suction rectal biopsy or transanal wedge resection. If a suction biopsy is performed, take the biopsy 2-2.5 cm above the dentate line on the posterior wall to minimize the risk of perforation. Carefully examine biopsy specimens for the presence or absence of ganglion cells in the submucous plexus (suction rectal biopsy) or myenteric plexuses (transanal wedge resection).

In the hands of an experienced pathologist, the resulting biopsy and absence of ganglion cells confirm the diagnosis and allow the initiation of treatment. Skip lesions of aganglionosis have been reported in cases of Hirschsprung disease.[5]

Acetylcholinesterase staining of the tissue can be performed to assist with the pathologic assessment. Acetylcholinesterase staining identifies the hypertrophy of extrinsic nerves trunks. In short-segment Hirschsprung disease, the diagnosis can be made with a properly placed rectal suction biopsy alone or in combination with anorectal manometry.

Histologic Findings

Histologic findings include the absence of ganglion cells in the myenteric plexus and hypertrophic extrinsic nerve fibers.

Acetylcholinesterase staining and calretinin immunostaining may be helpful in making the diagnosis. Calretinin is helpful in ruling out Hirschsprung disease by staining the ganglion cells and intrinsic nerve tissue. Acetylcholinesterase, on the other hand, is helpful in confirming the diagnosis by demonstrating increased activity in the hypertrophied nerve trunks.[6]

 

Treatment

Medical Care

See the list below:

  • If a child with Hirschsprung disease has symptoms and signs of a high-grade intestinal obstruction, initial therapy should include intravenous hydration, withholding of enteral intake, and intestinal and gastric decompression.

  • Decompression can be accomplished through placement of a nasogastric tube and either digital rectal examination or normal saline rectal irrigations 3-4 times daily.

  • Administer broad-spectrum antibiotics to patients with enterocolitis.

  • Immediately request surgical consultation for biopsy confirmation and treatment plan.

  • While awaiting surgical intervention in the event of a planned single-stage pull-through procedure, the baby should receive scheduled vaccinations.

Surgical Care

The surgical options vary according to the patient's age, mental status, ability to perform activities of daily living, length of the aganglionic segment, degree of colonic dilation, and presence of enterocolitis.

Surgical options include leveling colostomy, which is a colostomy at the level of normal bowel; a staged procedure with placement of a leveled colostomy followed by a pull-through procedure; or a single-stage pull-through procedure. The single-stage pull-through procedure may be performed with laparoscopic, open, or transanal techniques. This procedure can be performed at the time of diagnosis or after the newborn has had rectal irrigations at home and has passed the physiologic nadir. Colostomy followed by pull-through procedure is generally reserved for those patients who present with sepsis due to enterocolitis, massive distention of ganglionic bowel prohibiting pull-through procedure, or are otherwise not medically suitable for the pull-through procedure.

The ability to perform a single-stage pull-through procedure largely depends on the availability, experience, and capabilities of the staff pathologist because aganglionic intestine must not be in the pull-through segment.

Recurrent postoperative enterocolitis may require treatment. Current therapeutic options include rectal dilations, application of topical nitric oxide, posterior myotomy/myectomy,[7] , injection of botulinum toxin, or repeat operation in the event of refractory obstructive symptoms or repeated enterocolitis.[8, 9]

Diet

A special diet is not required. However, preoperatively and in the early postoperative period, infants on a nonconstipated regimen, such as breast milk, are more easily managed.

Activity

Postoperatively, patients may return to their normal physical activities.

 

Medication

Medication Summary

Drug therapy currently is not a component of the standard of care for this disease itself; however, some medications may be used to treat complications of Hirschsprung disease. See Treatment. Medications may include antibiotics for the treatment of enterocolitis or the use of botulinum toxin injection at the anal sphincter for the treatment of recurrent enterocolitis due to anal hypertonicity.

 

Follow-up

Further Outpatient Care

See the list below:

  • Prior to surgical intervention in patients with Hirschsprung disease, perform close follow-up care to be sure the colon is adequately decompressed and that signs or symptoms of enterocolitis do not develop. Teach the family techniques of decompression and rectal irrigation because these therapies aid in decreasing colonic dilation in preparation for surgery.

  • Preoperatively, counsel the family as to the available surgical options. If the child is to undergo a staged procedure or have a permanent ostomy, provide preliminary instruction about ostomy care to the family.

  • Postoperatively, patients need close follow-up care to assess healing as well as a screen for potential complications (eg, stricture formation). Outpatient dilations may be necessary to alleviate strictures and should be expected in patients who undergo a single-stage pull-through procedure in the newborn period.

Complications

Postoperative complications may include intermittent fecal soiling and incontinence, anastomotic leak, stricture formation, intestinal obstruction, and enterocolitis.

Prognosis

The outcome in infants and children with Hirschsprung disease is generally quite good. Most children obtain fecal continence and control. However, children with other significant comorbidities, such as major genetic abnormalities, may have lower rates of continence.

Patient Education

Alert patients and their families to potential preoperative and postoperative complications of Hirschsprung disease. When applicable, teach patients and their families how to care for an ostomy.