Hirschsprung disease Imaging

Overview
The first report of a patient with Hirschsprung disease (HD) was made in 1691 by Frederick Ruysch, but it was Danish pediatrician Harald Hirschsprung who in 1888 published the classic description of congenital megacolon.[1] HD is characterized by the absence of myenteric and submucosal ganglion cells (Auerbach and Meissner plexuses) along a variable length of the distal alimentary tract. The disease results in decreased motility in the affected bowel segment, lack of propagation of peristaltic waves into the aganglionic colon, and abnormal or absent relaxation of this segment and of the internal anal sphincter. (See the images below.)

Hirschsprung disease. Frontal abdominal radiograph showing marked dilatation of the bowel with no gas in the rectum.

Hirschsprung disease. Lateral view from a barium enema examination depicting the reduced diameter of the rectum and sigmoid.

Hirschsprung disease Imaging

Hirschsprung disease. Barium enema showing reduced caliber of the rectum, followed by a transition zone to an enlarged-caliber sigmoid.

Preferred examination
A diagnostic evaluation should begin with plain abdominal radiography, followed by a contrast enema examination of the colon to confirm the diagnosis of HD. Occasionally, ultrasonographic findings may also suggest the diagnosis.[2, 3, 4]

Limitations of techniques
A radiologic or an ultrasonographic study alone is not a sensitive enough to exclude HD. Manometry and/or rectal mucosal biopsy are required for accurate diagnosis.[5, 6]

Radiography
Radiographs of the neonatal abdomen may show multiple loops of dilated small bowel with airfluid 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 Hirschsprung-associated enterocolitis (HAEC). (See the images below.)

Hirschsprung disease. Frontal abdominal radiograph showing marked dilatation of the bowel with no gas in the rectum.

Hirschsprung disease Imaging

Hirschsprung disease. Frontal abdominal radiograph showing marked dilatation of the small bowel with no gas in the rectum.

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 Imaging

Hirschsprung disease. Plain abdominal radiograph showing dilatation of the transverse colon and mucosal edema (toxic megacolon).

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. (See the images below.)[6]

Hirschsprung disease. Barium enema technique shows slow contrast-material infusion.

Hirschsprung disease Imaging

Hirschsprung disease. Lateral view from a barium enema examination depicting the reduced diameter of the rectum and sigmoid.

Hirschsprung disease. Barium enema showing reduced caliber of the rectum, followed by a transition zone to an enlarged-caliber sigmoid.

Hirschsprung disease. Barium enema showing reduced caliber of the rectum, followed by a transition zone to an enlarged-caliber sigmoid.

Hirschsprung disease Imaging

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).

Hirschsprung disease Imaging

Hirschsprung disease. Barium enema showing a reduced-caliber rectum and dilated large-bowel loops with an irregular mucosal contour (dyskinesia).

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.[7] 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 markshaped colon in total colonic aganglionosis According to the results of one study, the use of the rectosigmoid index (widest diameter of the rectum divided by the widest diameter of the sigmoid colon < 1 in HD) can in some cases help to identify HD in patients when the diagnosis would have been missed by looking at the transitional zone alone.[8] Contrast enemas should be avoided in patients with enterocolitis because of the risk of perforation.

Hirschsprung disease Imaging

Degree of confidence
Contrast enema examination is not as sensitive or reliable as rectal suction biopsy in ruling out Hirschsprung disease (HD).[9] 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).[5]

Ultrasonography
Although ultrasonography is not the first imaging tool for diagnosing Hirschsprung disease (HD), diagnosis is possible with real-time ultrasonography.[10] Oestreich reported a case of unsuspected HD in a 1-month-old baby who was taken to a pediatrician for a check-up.[11] A distended abdomen was noted.[11] 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. However, the degree of confidence in ultrasonography is low, because gas-filled bowel loops can complicate the diagnosis of HD.

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References 1. 2. 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]. Kessmann J. Hirschsprung's disease: diagnosis and management. Am Fam Physician. Oct 15 2006;74(8):1319-22. [Medline]. [Full Text]. 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):24553. [Medline]. 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]. 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].

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10. Orno AK, Lovkvist H, Marsal K, et al. Sonographic visualization of the rectoanal inhibitory reflex in children suspected of having Hirschsprung disease: a pilot study. J Ultrasound Med. Aug 2008;27(8):11659. [Medline]. 11. Oestreich AE. Ultrasound diagnosis of Hirschsprung abdomen. Radiologe. Jan 1990;30(1):19-20.[Medline]. disease in the infant with distended