Hirschsprung Disease
Hirschsprung Disease: Excerpt from The 5-Minute Pediatric Consult
Joy L. Collins, MD
Hirschsprung Disease - BASICS
Hirschsprung Disease - description
- Intestinal abnormality of aganglionosis of the distal bowel beginning at the anus and extending proximately for a variable distance, causing partial or complete intestinal obstruction, difficulty in passing stools, and in some cases enterocolitis
- Also known as congenital megacolon
- First reported by Harald Hirschsprung in 1888
- Present as complete obstruction, delayed passage of meconium, “chronic constipation,” or enterocolitis
Hirschsprung Disease - epidemiology
Hirschsprung Disease - incidence
- Most common cause of lower intestinal obstruction in neonates: 1 in 5,000 births
- Familial incidence in total colonic aganglionosis: 75% of cases, rectosigmoid involved; 14%, descending colon involved; 8%, colon involved; 3%, small bowel affected
Hirschsprung Disease - prevalence
- Overall rate of male/female patients is 2.8:1; in long-segment disease, it is 2.8:1, and in total colonic aganglionosis, it is 2.2:1.
- Syndromic and nonsyndromic Hirschsprung disease: In the former there are other congenital anomalies (30% of cases), whereas in the latter it occurs as an isolated trait.
Hirschsprung Disease - risk factors
Hirschsprung Disease - genetics
- Possible gene loci at chromosomes 3p21, 10q11, and 19q12
- Associated with mutations in the RET proto-oncogene
- ~5% of patients with Hirschsprung disease have mutations in the endothelin signaling pathway.
Hirschsprung Disease - pathophysiology
- Basic histologic finding is the absence of Meissner and Auerbach plexuses and hypertrophied nerve bundles between the circular and the longitudinal muscles and in the submucosa.
- Defect is considered as a failure of caudal migration of the neural crest cells.
Hirschsprung Disease - associated conditions
- In 3% of the patients, there has been an association with Down syndrome, cardiac anomalies, and coexistent multiple neuroblastomas.
- More recently there have been case reports of neurologic disorders associated in children with Hirschsprung disease.
- May be familial and associated with disorders of the urogenital tract, cardiovascular defects, other GI system disorders, cleft palate, and extremity defects.
- Another study reveals upper gut dysmotility in patients with Hirschsprung disease and its allied disorders in adults.
Hirschsprung Disease - DIAGNOSIS
Hirschsprung Disease - signs & symptoms
Hirschsprung Disease - history
- 80% of patients present in the neonatal period.
- Typical symptoms: Failure to pass meconium by 48 hours of life; delayed passage of meconium after 24 hours of life; history of constipation; history of chronic laxative use, abdominal distention, bilious vomiting, diarrhea in 22% of patients
- Neonates usually have normal weight, but growth retardation may occur when the disease is severe.
- Children with Hirschsprung disease usually have small-volume and small-diameter stools. Some may have overflow diarrhea as well.
Hirschsprung Disease - physical exam
- On rectal examination, the sphincter tone is usually normal or increased. Removal of the finger may be followed by explosive diarrhea; transition zone is usually not felt in infants <2 months of age.
- In most instances, especially in older children, the rectum is empty.
- Patients may be anemic owing to chronic blood loss from the large bowel secondary to infection.
Hirschsprung Disease - tests
Hirschsprung Disease - lab
CBC: Anemia, leukocytosis in the presence of enterocolitis
Hirschsprung Disease - imaging
- Plain film of abdomen:
- May show distended loops of colon
- Small bowel air is usually present in the bowel proximal to the obstruction.
- Diffuse intestinal pneumatosis has been reported as a rare presentation.
- Barium enema:
- Useful but not diagnostic
- Transition zone is a funnel-shaped area of intestine with normal distal area and dilated proximal area.
- Reveals large intestinal mucosal pattern, prominently thickened folds, and irregular margins secondary to ulceration
- Significant delay in excretion of barium should also raise one’s suspicion for Hirschsprung disease.
Hirschsprung Disease - diag proced-surgery
- Anorectal manometry: Diagnostic, but usually reserved for those cases causing diagnostic difficulties, as in the ultrashort segment disease.
- Suction biopsy:
- Should be done ~2–4 cm from the anal verge depending on the age of the patient
- Biopsies must have adequate submucosa to demonstrate neurofibrils detected using acetylcholinesterase as a stain.
- With the absence of ganglion cells, biopsy is diagnostic.
- If the suction biopsies are not conclusive, a full-thickness biopsy is mandatory.
Hirschsprung Disease - pathological findings
- Aganglionic segment
- Zone of hypoganglionosis proximal to the aganglionic segment
- Incomplete maturation of enteric nerve plexus
- Hypertrophy of nonmyelinated nerve fibers within bowel wall
Hirschsprung Disease - differencial diagnosis
- Mechanical obstruction
- Meconium ileus
- Meconium plug syndrome
- Neonatal small left colon syndrome
- Malrotation with volvulus
- Intestinal atresia
- Intussusception
- Necrotizing enterocolitis
- Functional obstruction
- Intestinal neuronal dysplasia
- Sepsis
- Metabolic disorders (e.g., uremia, hypothyroidism)
- Disorders of intrinsic enteric nerves (diabetes or dysautonomia)
- Disorders of smooth muscle function
- Electrolyte disturbances
- Chronic constipation
Early recognition is of utmost importance in reducing the morbidity and mortality of Hirschsprung disease.
Hirschsprung Disease - TREATMENT
Hirschsprung Disease - general measures
Stabilizing treatment:
- Fluid resuscitation
- Nasogastric decompression
- Broad-spectrum antibiotics
- Saline enemas for decompression
Hirschsprung Disease - medication
- 1st Line:
- For constipation: Rhubarb, prune or pear juice, bran
- For diarrhea: Bananas, carrots, blueberries
- 2nd Line:
- For constipation: Senna extract
- For diarrhea: Cholestyramine, loperamide (must make sure diarrhea is not due to enterocolitis)
Hirschsprung Disease - surgery
- Initial operation:
- Defunctionalizing colostomy or ileostomy for total colonic aganglionosis or if child presents with obstruction not relieved by rectal irrigations
- Performed to avoid the hazards of enterocolitis
- If the child has already developed enterocolitis, colostomy may be deferred until the general condition improves:
- Definitive surgery:
- Performed 6 months to 1 year after the initial colostomy
- May be performed as initial procedure in stable, nonobstructed child
- The various surgical procedures performed are:
- Endorectal pull-through:
- Widely used
- Basic principle is to strip the aganglionic rectum of its mucosa and then to bring normally innervated colon through the residual rectal muscular cuff, thereby bypassing the abnormal bowel from within.
- Advantages: Sphincter function is preserved and minimal danger of injury to pelvis
- Retrorectal transanal pull-through (Duhamel procedure):
- The normally innervated bowel is brought behind the abnormally innervated rectum ~1–2 cm above the pectinate line, and an end-to-side anastomosis is performed.
- Procedure creates a neorectum with the anterior half having normal sensory receptors and a posterior 1/2 with normal propulsion.
- Advantages: Reduces pelvic dissection to a minimum and retains the sensory pathway of rectal reflexes
- Disadvantages: Incontinence if anastomosis is too low and obstructive symptoms if anastomosis is too high or if the aganglionic segment is too long
- Other procedures include the Soave (endorectal pull-through).
- In total colonic aganglionosis, the modified Lester Martin technique may be performed: Involves the anastomosis of the cecum and ascending colon as an onlay patch graft in the more distal normal small bowel, which is then pulled through the amputated rectum, which has been stripped of its mucosa, and a primary anastomosis is performed.
- Laparoscopy-assisted abdominoperineal pull-through has shown good intermediate results, and the more recent transanal pull-through is promising. Long-term results are awaited.
- Clinicians must have HIGH suspicion for enterocolitis both before and after definitive pull-through.
- Fecal incontinence could occur after surgery.
Hirschsprung Disease - FOLLOW UP
Most children are followed on a regular basis for the 1st decade after surgery.
Hirschsprung Disease - complications
- Early (<4 weeks postoperation, usually related to technical issues):
- Anastomotic leaks
- Cuff abscesses and retraction of pull-through segment
- Disturbances of micturition
- Wound infections, intra-abdominal adhesions
- Late:
- Chronic constipation
- Long-term voiding dysfunction
- Sexual dysfunction due to dissection around pelvic nerve plexus
- Enterocolitis
- Enterocolitis is the most important complication:
- Secondary to obstruction causing an increase in intraluminal pressure and decreased intramural capillary blood flow
- Affects the protective mucosal barrier, enabling fecal breakdown products, bacteria, and toxins to enter the bloodstream
- Usually presents with fever, diarrhea, and frequent, bloody, bilious vomiting
- Can occur both before and after definitive pull-through
- Clinicians must have HIGH suspicion; can be rapidly progressive and FATAL
Hirschsprung Disease - bibliography
- Abi-Hanna A, Lake AM. Constipation and encopresis in childhood. Pediatr Rev. 1998;19:23–30.
- Diseth TH, Egeland T, Emblem R. Effects of anal invasive treatment and incontinence on mental health and psychosocial functioning of adolescents with Hirschsprung disease and low anorectal anomalies. J Pediatr Surg. 1998;33:468–475.
- Engum SA, Grosfeld JL. Long-term results of treatment of Hirschsprung’s disease. Semin Pediatr Surg. 2004;13(4):273–285.
- Hsieh WS, Yang PH, Huang CS, et al. Hirschsprung disease presenting with diffuse intestinal pneumatosis in a neonate. Acta Paediatr Taiwan. 2000;41:336–338.
- Jona JZ. Personal experience with 50 laparoscopic procedures for Hirschsprung disease in infants and children. Pediatr Endosurg Techn. 2001;5:75.
- Kessmann J. Hirschsprung’s disease: Diagnosis and management. Am Fam Physician. 2006;74(8):1319–1322.
- Lyonnet S, Bolino A, Pelet A, et al. A gene for Hirschsprung disease maps to the proximal long arm of chromosome 10. Nat Genet. 1993;4:346–501.
- Shahar E, Shinawi M. Neurocristopathies presenting with neurologic abnormalities associated with Hirschsprung’s disease. Pediatr Neurol. 2003;28:385–391.
- So HB, Becker JM, Schwartz DL, et al. Eighteen years’ experience with neonatal Hirschsprung disease treated by endorectal pull-through without colostomy. J Pediatr Surg. 1998;33:673–675.
- Swenson O. Hirschsprung’s disease: A review. Pediatrics. 2002;109:914–918.
- Teitelbaum DH, Cilley RE, Sherman NJ, et al. A decade of experience with the primary pull-through for Hirschsprung disease in the newborn period: A multicenter analysis of outcomes. Ann Surg. 2000;232:372–380.
- Teitelbaum DH, Coran AG. Primary pull-through for Hirschsprung’s disease. Semin Neonatol. 2003;8:233–241.
- Tomita R, Ikeda T, Fujisaki S, et al. Upper gut motility of Hirschsprung disease and its allied disorders in adults. Hepatogastroenterology. 2003;50:1959–1962.
- Ure BM, Holschneider AM, Meier-Ruge W. Neuronal intestinal malformations: A retro- and prospective study on 203 patients. Eur J Pediatr Surg. 1994;4:279.
- Van der Zee DC, Bax KN. One-stage Duhamel-Martin procedure for Hirschsprung disease: A 5-year follow-up study. J Pediatr Surg. 2000;35:1434–1436.
Hirschsprung Disease - CODES
Hirschsprung Disease - icd9
751.3 Hirschsprung (congenital megacolon)
Hirschsprung Disease - FAQ
- Q: Will the bowel movements be normal after surgery?
- A: Studies have shown that 83% of children have 3 or fewer stools per day at a mean follow-up of 4.1 ± 2.5 years.
- Q: Are laxatives required after surgery?
- A: In ~20% of children, some sort of laxative therapy or rectal irrigation may be required.
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Book Source Details
- Book Title: The 5-Minute Pediatric Consult
- Author(s): M. William Schwartz MD; et al.
- Year of Publication: 2008
- Copyright Details: The 5-Minute Pediatric Consult, Copyright © 2008 Lippincott Williams & Wilkins.
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Copyright notice for book excerpts: Copyright © 2008 Lippincott Williams & Wilkins. All rights reserved.
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More About This Book:
Title: The 5-Minute Pediatric Consult
Authors: M. William Schwartz MD; et al.
Publisher: Lippincott Williams & Wilkins
Copyright: 2008
ISBN: 0-7817-7577-9
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