Radiography
Findings
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.
Hirschsprung disease. Lateral abdominal radiograph shows a very enlarged, stool-filled sigmoid. No air or stool content is seen in the rectum.
Hirschsprung disease. Lateral view from a barium enema examination depicting the reduced diameter of the rectum and sigmoid.
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.
Hirschsprung disease. Barium enema showing reduced caliber and length of the large bowel, with no clear transition zone (total colonic aganglionosis).
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.
Hirschsprung disease (HD) is more definitively diagnosed by means of contrast enema examination, which can show the presence of a transition zone, irregular contractions, mucosal irregularity, and delayed evacuation of contrast material, among other findings.8
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; although this is a highly reliable sign of HD, failure to visualize a transition zone does not rule out the presence of the disease.9
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 the 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
Contrast enemas should be avoided in patients with enterocolitis because of the risk of perforation.
Degree of Confidence
Contrast enema examination is not as sensitive or reliable as rectal suction biopsy in ruling out Hirschsprung disease (HD).11 It has a sensitivity and specificity of 70% and 83%, respectively.
False Positives/Negatives
The false-negative rate of barium enema examination is about 24%. The presence of a transition zone on barium enema examination is falsely positive in 42-48.5% of children with suspected Hirschsprung disease (HD).7
Computed Tomography
Findings
A CT scan is not normally indicated.
Magnetic Resonance Imaging
Findings
An MRI scan is not normally indicated.
Ultrasonography
Findings
Although ultrasonography is not the first imaging tool for diagnosing Hirschsprung disease (HD), diagnosis is possible with real-time ultrasonography.12 Oestreich reported a case of unsuspected HD in a 1-month-old baby who was taken to a pediatrician for a check-up.13 A distended abdomen was noted.13 Ultrasonography revealed the same pattern that is observed in a barium enema examination, that is, a dilated sigmoid narrowing to a narrow rectum.
Ultrasonography 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.
More on Hirschsprung Disease |
| Overview: Hirschsprung Disease |
 Imaging: Hirschsprung Disease |
| Follow-up: Hirschsprung Disease |
| Multimedia: Hirschsprung Disease |
| References |
| Further Reading |
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References
Skaba R. Historic milestones of Hirschsprung's disease (commemorating the 90th anniversary of Professor Harald Hirschsprung's death). J Pediatr Surg. Jan 2007;42(1):249-51. [Medline].
Amiel J, Lyonnet S. Hirschsprung disease, associated syndromes, and genetics: a review. J Med Genet. Nov 2001;38(11):729-39. [Medline]. [Full Text].
Amiel J, Sproat-Emison E, Garcia-Barcelo M, et al. Hirschsprung disease, associated syndromes and genetics: a review. J Med Genet. Jan 2008;45(1):1-14. [Medline].
de Lorijn F, Boeckxstaens GE, Benninga MA. Symptomatology, pathophysiology, diagnostic work-up, and treatment of Hirschsprung disease in infancy and childhood. Curr Gastroenterol Rep. Jun 2007;9(3):245-53. [Medline].
Coran AG, Teitelbaum DH. Recent advances in the management of Hirschsprung's disease. Am J Surg. Nov 2000;180(5):382-7. [Medline].
Teitelbaum DH, Coran AG. Primary pull-through for Hirschsprung's disease. Semin Neonatol. Jun 2003;8(3):233-41. [Medline].
Diamond IR, Casadiego G, Traubici J, et al. The contrast enema for Hirschsprung disease: predictors of a false-positive result. J Pediatr Surg. May 2007;42(5):792-5. [Medline].
Stranzinger E, Dipietro MA, Teitelbaum DH, Strouse PJ. Imaging of total colonic Hirschsprung disease. Pediatr Radiol. Aug 5 2008;[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]. [Full Text].
Garcia R, Arcement C, Hormaza L, et al. Use of the recto-sigmoid index to diagnose Hirschsprung's disease. Clin Pediatr (Phila). Jan 2007;46(1):59-63. [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].
Ornö AK, Lövkvist H, Marsál K, von Steyern KV, Arnbjörnsson E. Sonographic visualization of the rectoanal inhibitory reflex in children suspected of having Hirschsprung disease: a pilot study. J Ultrasound Med. Aug 2008;27(8):1165-9. [Medline].
Oestreich AE. Ultrasound diagnosis of Hirschsprung disease in the infant with distended abdomen. Radiologe. Jan 1990;30(1):19-20. [Medline].
Pini Prato A, Gentilino V, Giunta C, Avanzini S, Mattioli G, Parodi S, et al. Hirschsprung disease: do risk factors of poor surgical outcome exist?. J Pediatr Surg. Apr 2008;43(4):612-9. [Medline].
Carty H, Shaw D, Brunelle F. Imaging Children. Edinburgh, Scotland: Churchill Livingstone; 1994:288-91.
de Lorijn F, Kremer LC, Reitsma JB, et al. Diagnostic tests in Hirschsprung disease: a systematic review. J Pediatr Gastroenterol Nutr. May 2006;42(5):496-505. [Medline].
Erwin CR, Warner BW. Hirschsprung lost his nerve. Gastroenterology. Dec 2003;125(6):1900-2. [Medline].
Feldman T, Wershil BK. In brief: Hirschsprung disease. Pediatr Rev. Aug 2006;27(8):e56-7. [Medline].
Grainger RG, Allison DJ, Adrian DK, eds. Grainger & Allison's Diagnostic Radiology: A Textbook of Medical Imaging. 3rd ed. Edinburgh, Scotland: Churchill Livingstone; 1997:1119-21.
Guidone P, Thomason M, Buonomo C, et al. Pediatric case of the day. Total colonic Hirschsprung's disease. AJR Am J Roentgenol. Sep 1999;173(3):815, 819-20. [Medline].
Kessmann J. Hirschsprung's disease: diagnosis and management. Am Fam Physician. Oct 15 2006;74(8):1319-22. [Medline]. [Full Text].
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]. [Full Text].
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]. [Full Text].
Seaman SL, Goodwin P, Daniel J, et al. 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. St Louis, Mo: Mosby Year Book; 1993:2074-80.
Skinner MA. Hirschsprung's disease. Curr Probl Surg. May 1996;33(5):389-460. [Medline].
Gore RM, Levine MS, Laufer I, eds. Textbook of Gastrointestinal Radiology. Philadelphia, Pa: WB Saunders; 1994:1470-2.
Torfs CP. An Epidemiological Study of Hirschsprung Disease in a Multiracial California Population. The Third International Meeting: Hirschsprung Disease and Related Neurocristopathies, Evian, France. 1998.
Further Reading
Evaluation and treatment of constipation in infants and children: recommendations of the North American Society for Pediatric Gastroenterology, Hepatology and Nutrition. North American Society for Pediatric Gastroenterology, Hepatology, and Nutrition. 1999 Nov (revised 2006 Sep). 13 pages. NGC:005245
ASGE guideline: guideline on the use of endoscopy in the management of constipation. American Society for Gastrointestinal Endoscopy. 2005 Aug. 3 pages. NGC:004485
Keywords
Hirschsprung disease, congenital megacolon, aganglionic megacolon, aganglionosis, HD, Hirschsprung's disease, transition zone, Swenson procedure, Soave pull-through procedure, Duhamel procedure, Hirschsprung-associated enterocolitis, Hirschsprung's-associated enterocolitis, HAEC, neurocristopathy
