AUTHOR AND EDITOR INFORMATION

Section 1 of 10  

• Authors and Editors
• Introduction
• Differentials
• Radiograph
• CT SCAN
• Mri
• Ultrasound
• Intervention
• Multimedia
• References

INTRODUCTION

Section 2 of 10  

• Authors and Editors
• Introduction
• Differentials
• Radiograph
• CT SCAN
• Mri
• Ultrasound
• Intervention
• Multimedia
• References

Background

The first report of a patient with Hirschsprung disease (HD) was made in 1691 by Frederick Ruysch, but it was Harald Hirschsprung who published the classic description of congenital megacolon in 1886. HD is characterized by the absence of myenteric and submucosal ganglion cells in the distal alimentary tract. The disease results in decreased motility in the affected bowel segment.

Pathophysiology

The congenital absence of ganglion cells in the distal alimentary tract is the pathologic sine qua non of HD. The aganglionosis present in HD results from a failure of cells derived from the neural crest to populate the embryonic colon during development. This failure results from a fundamental defect in the microenvironment of the bowel wall that prevents ingrowth of neuroblasts. So far, 8 genetic defects are known to be associated with HD, including mutations to the endothelin-B receptor gene and the RET proto-oncogene. Because of the polygenic nature of HD, the penetrance of the condition is variable; it leads to the variable manifestations of the disease.

Frequency

United States

In the United States, the incidence of Hirschsprung disease is approximately 1 case per 5,000 live births.

Mortality/Morbidity

The polygenic and varied penetrance genetic condition of HD determines a wide range of clinical symptoms. These include obstipation immediately after birth to a milder picture associated with incomplete evacuation that eventually leads to a distended abdomen, recurrent constipation, and a high diaphragm.

Better diagnostic procedures, an emphasis on early diagnosis, and improvements in surgical techniques have contributed to decreased mortality rates in individuals with HD.

The greatest morbidity and mortality is observed in children younger than 1 year of age, as a result of possible Hirschsprung-HD-associated enterocolitis (HAEC). The mean incidence is 25%. HAEC can be fatal if it is not diagnosed and treated rapidly.

Race

HD is estimated to occur at a rate of 1 case per 5,000 live births; however, significant variance among ethnic groups seems to exist. For example, the rate is 1.5 cases per 10,000 live births in Caucasians; 2.1 cases per 10,000 live births in African Americans; and 2.8 cases per 10,000 live births in Asian Americans.

Sex

Males are affected more often than females, with a ratio of 4:1. The male preponderance for the disease is slightly reduced when only patients with long-segment HD are considered.

Age

As a congenital disorder, HD is manifested mostly within the first several weeks of life, and it is diagnosed in those aged 5 years or younger. Occasionally, HD is diagnosed during adulthood.

Anatomy

HD is regarded as a neurocristopathy because it involves a premature arrest of the craniocaudal migration of vagal neural crest cells in the hindgut at weeks 5-12 of gestation to form the enteric nervous system. As a consequence, both intramural ganglion cells in the Meissner (submucosal) and Auerbach (myenteric) plexuses are absent. The anus is always involved, and a variable length of distal intestine may be involved as well. The aganglionic, aperistaltic bowel segment effectively prevents the propulsion of the fecal stream, resulting in dilation and hypertrophy of the normal proximal colon.

HD can be classified by the extension of the aganglionosis as follows:

• Classical HD (75% of cases): The aganglionic segment does not extend beyond the upper sigmoid.
• Long segment HD (20% of cases)
• Total colonic aganglionosis (3-12% of cases)

Some rare variants include the following:

• Total intestinal aganglionosis
• Ultra-short-segment HD (involving the distal rectum below the pelvic floor and the anus)

Clinical Details

Newborns with HD come to medical attention with the following symptoms:

• Failure to pass meconium within the first 48 hours of life
• Abdominal distension that is relieved by rectal stimulation or enemas
• Vomiting
• Neonatal enterocolitis

Symptoms in older children and adults include the following:

• Severe constipation
• Abdominal distension
• Bilious vomiting
• Failure to thrive

Children presenting with abdominal distension, explosive diarrhea, vomiting, fever, lethargy, rectal bleeding, or shock may possibly have HAEC. The risk for HAEC is greatest before HD is diagnosed or after the definitive pull-through operation. Also, children with Down syndrome have an increased risk for HAEC.

HD occurs as an isolated trait in 70% of patients; it is associated with a chromosomal abnormality in 12% of cases (>90% involving trisomy 21) and with additional congenital anomalies in 18% of cases.

Some associated syndromes include the following:

• Down syndrome
• Multiple endocrine neoplasia type 2 (MEN2)
• Cat eye syndrome
• Waardenburg syndrome
• Bardet-Biedl syndrome

Preferred Examination

A diagnostic evaluation should begin with plain abdominal radiography followed by a contrast enema examination of the colon to confirm the diagnosis. Occasionally, ultrasonographic findings may also suggest the diagnosis.

Manometry

Rectal manometry is complementary to barium enema examination. It has an accuracy of 75% and shows an absence of normal relaxation of the internal sphincter, with a reduction in the intraluminal pressure in the anal canal when the rectum is distended with a balloon. This technique is more reliable from day 12 after birth, when the normal rectoenteric reflex is present.

Biopsy

The predictive value of the biopsy is essentially 100% in excluding HD if ganglion cells are present. It can be performed by means of a rectal suction biopsy or full-thickness rectal biopsy. The first procedure eliminates the need for general anesthesia; however, the latter provides bigger fragments of the submucosal neural plexus for histologic examination.

In HD, the biopsy reveals an absence of ganglion cells, hypertrophy and hyperplasia of nerve fibers, and an increase in acetylcholinesterase-positive nerve fibers in the lamina propria and muscularis mucosa. Samples must be obtained well above the anal valves because ganglion cells are normally absent in the anal canal.

Limitations of Techniques

A radiologic or ultrasonographic study alone is not a sensitive enough to exclude HD. Manometry, rectal mucosal biopsy, or both are required for accurate diagnosis.

DIFFERENTIALS

Section 3 of 10  

• Authors and Editors
• Introduction
• Differentials
• Radiograph
• CT SCAN
• Mri
• Ultrasound
• Intervention
• Multimedia
• References

Other Problems to be Considered

Neonatal small left-colon syndrome
Intestinal neuronal dysplasia
Constipation

RADIOGRAPH

Section 4 of 10  

• Authors and Editors
• Introduction
• Differentials
• Radiograph
• CT SCAN
• Mri
• Ultrasound
• Intervention
• Multimedia
• References

Findings

Radiographs of the neonatal abdomen may show multiple loops of dilated small bowel with air-fluid levels that can usually be determined to be a distal bowel obstruction. An empty rectum is a common finding. A cutoff sign in the rectosigmoid region, with an absence of air distally, is a useful finding in HAEC.

HD is more definitively diagnosed by means of contrast enema examination, which can show the presence of a transition zone, irregular contractions, mucosal irregularity, delayed evacuation of contrast material, and other findings.

The transition zone is the term applied to the region in which a marked change in caliber occurs, with the dilated normal colon above and the narrowed aganglionic colon below. This sign is highly reliable of HD, but a failure to visualize this sign does not rule out HD.

The hallmark of the diagnosis is demonstration of the transition zone from the dilated bowel to the reduced-caliber bowel. Obviously, finding more than 1 sign increases the accuracy in diagnosis. Signs of HD after barium enema administration include the following:

• Transition zone (often subtle during first week of life)
• Abnormal, irregular contractions of aganglionic segment (rare)
• Thickening and nodularity of colonic mucosa proximal to transition zone (rare)
• Delayed evacuation of barium
• Mixed barium-stool pattern on delayed radiographs
• Distended bowel loops on plain radiographs that almost fill after contrast enema
• Question mark–shaped colon in total colonic aganglionosis

Degree of Confidence

Barium enema examination is not as sensitive or reliable as rectal suction biopsy in ruling out HD.

False Positives/Negatives

The false-negative rate of barium enema examination is about 24%. In one study, the presence of a transition zone on barium enema examination was falsely positive in 43% of children with suspected HD.

CT SCAN

Section 5 of 10  

• Authors and Editors
• Introduction
• Differentials
• Radiograph
• CT SCAN
• Mri
• Ultrasound
• Intervention
• Multimedia
• References

Findings

CT scan is not normally indicated.

MRI

Section 6 of 10  

• Authors and Editors
• Introduction
• Differentials
• Radiograph
• CT SCAN
• Mri
• Ultrasound
• Intervention
• Multimedia
• References

Findings

MRI is not normally indicated.

ULTRASOUND

Section 7 of 10  

• Authors and Editors
• Introduction
• Differentials
• Radiograph
• CT SCAN
• Mri
• Ultrasound
• Intervention
• Multimedia
• References

Findings

Although sonography is not the first imaging tool for diagnosing HD, diagnosis is possible with real-time ultrasonography. Oestreich reported a case of unsuspected HD in a 1-month-old baby who went to the pediatrician for a check-up. A distended abdomen was noted. Sonography revealed the same pattern that is observed in the barium enema examination, that is, a dilated sigmoid narrowing to a narrow rectum.

Sonography may also help in determining the dynamic or adynamic state of fluid-filled or solid-filled bowel loops.

Degree of Confidence

The degree of confidence is low because gas-filled bowel loops can complicate the diagnosis.

INTERVENTION

Section 8 of 10  

• Authors and Editors
• Introduction
• Differentials
• Radiograph
• CT SCAN
• Mri
• Ultrasound
• Intervention
• Multimedia
• References

The treatment is surgical and based on the removal or bypass of the poorly functioning aganglionic bowel, with anastomosis of normally innervated intestine to the distal rectum. This can be performed by means of a preliminary colostomy followed by a definitive pull-through procedure or, more recently, an immediate definitive procedure. Examples of the latter include the Soave pull-through procedure, the Duhamel procedure, and the Swenson procedure.

In general, the treatment plan varies according to the extent of aganglionosis and the age of the patient. In most cases, treatment restores nearly normal motility and enables most affected individuals to have normal bowel function.

Common complications include HAEC after the Swenson operation, diarrhea and incontinence after the Soave endorectal pull-through procedure, and constipation after the Duhamel procedure.

MULTIMEDIA

Section 9 of 10  

• Authors and Editors
• Introduction
• Differentials
• Radiograph
• CT SCAN
• Mri
• Ultrasound
• Intervention
• Multimedia
• References

Media file 1:  Hirschsprung disease. Frontal abdominal radiograph showing marked dilatation of the bowel with no gas in the rectum.
	View Full Size Image
Media type:  X-RAY

Media file 2:  Hirschsprung disease. Frontal abdominal radiograph showing marked dilatation of the small bowel with no gas in the rectum.
	View Full Size Image
Media type:  X-RAY

Media file 3:  Hirschsprung disease. Frontal abdominal radiograph showing marked dilatation of the bowel with no gas in the rectum. In the sitting position, air-fluid levels in the large bowel are seen.
	View Full Size Image
Media type:  X-RAY

Media file 4:  Hirschsprung disease. Lateral abdominal radiograph shows a very enlarged, stool-filled sigmoid. No air or stool content is seen in the rectum.
	View Full Size Image
Media type:  X-RAY

Media file 5:  Hirschsprung disease. Barium enema technique shows slow contrast-material infusion.
	View Full Size Image
Media type:  X-RAY

Media file 6:  Hirschsprung disease. Lateral view from a barium enema examination depicting the reduced diameter of the rectum and sigmoid.
	View Full Size Image
Media type:  X-RAY

Media file 7:  Hirschsprung disease. Barium enema showing reduced caliber of the rectum, followed by a transition zone to an enlarged-caliber sigmoid.
	View Full Size Image
Media type:  X-RAY

Media file 8:  Hirschsprung disease. Barium enema showing reduced caliber of the rectum, followed by a transition zone to an enlarged-caliber sigmoid.
	View Full Size Image
Media type:  X-RAY

Media file 9:  Hirschsprung disease. A 24-hour-delayed radiograph obtained after a barium enema examination shows retention of barium and stool in the rectum. This is associated with a dilated stool-filled sigmoid.
	View Full Size Image
Media type:  X-RAY

Media file 10:  Hirschsprung disease. Barium enema showing reduced caliber and length of the large bowel, with no clear transition zone (total colonic aganglionosis).
	View Full Size Image
Media type:  X-RAY

Media file 11:  Hirschsprung disease. Barium enema showing a reduced-caliber rectum and dilated large-bowel loops with an irregular mucosal contour (dyskinesia).
	View Full Size Image
Media type:  X-RAY

Media file 12:  Hirschsprung disease. Plain abdominal radiograph showing dilatation of the transverse colon and mucosal edema (toxic megacolon).
	View Full Size Image
Media type:  X-RAY

REFERENCES

Section 10 of 10

• Authors and Editors
• Introduction
• Differentials
• Radiograph
• CT SCAN
• Mri
• Ultrasound
• Intervention
• Multimedia
• References

• Amiel J, Lyonnet S. Hirschsprung disease, associated syndromes, and genetics: a review. J Med Genet. Nov 2001;38(11):729-39. [Medline].
• Carty H, Shaw D, Brunelle F. Imaging Children. Edinburgh:. Churchill Livingstone;1994: 288-91.
• Coran AG, Teitelbaum DH. Recent advances in the management of Hirschsprung''s disease. Am J Surg. Nov 2000;180(5):382-7. [Medline].
• Erwin CR, Warner BW. Hirschsprung lost his nerve. Gastroenterology. Dec 2003;125(6):1900-2. [Medline].
• Gore RM, Levine MS, Langer I. Textbook of Gastrointestinal Radiology. WB Saunders Co;1994: 1470-2.
• Grainger RG, Allison D. Grainger & Allison's Diagnostic Radiology: A Textbook of Medical Imaging. 3rd ed. Churchill Livingstone;1997: 1119-21.
• Guidone P, Thomason M, Buonomo C, Kassarjian A. Pediatric case of the day. Total colonic Hirschsprung''s disease. AJR Am J Roentgenol. Sep 1999;173(3):815, 819-20. [Medline].
• Maia DM. Diagnosis of Hirschsprung''s disease. Pediatr Pathol Lab Med. Mar-Apr 1997;17(2):329-30. [Medline].
• Mindelzun RE, Hicks SM. Adult Hirschprung disease: radiographic findings. Radiology. Sep 1986;160(3):623-5. [Medline].
• O''Donovan AN, Habra G, Somers S, et al. Diagnosis of Hirschsprung''s disease. AJR Am J Roentgenol. Aug 1996;167(2):517-20. [Medline].
• Oestreich AE. Ultrasound diagnosis of Hirschsprung disease in the infant with distended abdomen. Radiologe. Jan 1990;30(1):19-20. [Medline].
• Rosenfield NS, Ablow RC, Markowitz RI, et al. Hirschsprung disease: accuracy of the barium enema examination. Radiology. Feb 1984;150(2):393-400. [Medline].
• Seaman SL, Goodwin P, Daniel J, Hillis A. Hirschsprung''s disease: a difficult diagnosis. Tex Med. Dec 1987;83(12):37-9. [Medline].
• Silverman FN, Kuhn JP. Caffey´s Pediatric X-ray Diagnosis: An Integrated Imaging Approach. 9th ed. Mosby-Year Book;1993: 2074-80.
• Skinner MA. Hirschsprung''s disease. Curr Probl Surg. May 1996;33(5):389-460. [Medline].
• Taxman TL, Yulish BS, Rothstein FC. How useful is the barium enema in the diagnosis of infantile Hirschsprung''s disease?. Am J Dis Child. Sep 1986;140(9):881-4. [Medline].
• Teitelbaum DH, Coran AG. Primary pull-through for Hirschsprung's disease. Semin Neonatol. Jun 2003;8(3):233-41. [Medline].
• Torfs CP. An epidemiological study of Hirschsprung disease in a multiracial California population. In: The Third International Meeting: Hirschsprung Disease and Related Neurocristopathies. Evian, France:. 1998.

Article Last Updated: Mar 31, 2004