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Hirschsprung Disease


Hirschsprung disease is a developmental disorder characterized by the absence of ganglia in the distal colon, resulting in a functional obstruction.
See the images below.

A: Plain abdominal radiograph showing a transition

A: Plain abdominal radiograph showing a transition zone (PARTZ) at the rectosigmoid. B: Plain abdominal radiograph showing a PARTZ at the midsigmoid. C: Plain abdominal radiograph showing a PARTZ at the descending colon. D: Contrast enema showing a contrast enema transition zone (CETZ) at the rectosigmoid. E: Contrast enema showing a CETZ at the midsigmoid. F: Contrast enema showing a CETZ at descending colon. Images courtesy of Pratap A, Gupta DK, Tiwari A, et al. BMC Pediatr. 2007 Jan 27;7:5. [Open access.] PMID: 17257439, PMCID: PMC1790893.

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Most cases of Hirschsprung disease are diagnosed in the newborn period. Hirschsprung disease should be considered in any newborn who fails to pass meconium within 24-48 hours of birth. Although contrast enema is useful in establishing the diagnosis, full-thickness rectal biopsy remains the criterion standard. Once the diagnosis is confirmed, the definitive treatment is to remove the aganglionic bowel and to restore continuity of the healthy bowel with the distal rectum, with or without an initial intestinal diversion.

Historical notes

Although this condition was described by Ruysch in 1691 and popularized by Hirschsprung in 1886, the pathophysiology was not clearly determined until the middle of the 20th century, when Whitehouse and Kernohan reported aganglionosis of the distal colon as the cause of obstruction in a case series.

In 1949, Swenson described the first consistent definitive procedure for Hirschsprung disease, rectosigmoidectomy with coloanal anastomosis. Since then, other operations have been described, including the Duhamel and Soave techniques. More recently, earlier diagnosis and advances in surgical techniques have resulted in decreased morbidity and mortality in patients with Hirschsprung disease.

Also see Pediatric Hirschsprung Disease and Hirschsprung Disease Imaging.

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