Male Patient Born with Hirschsprung Disease

Luis De La Torre, M.D.
International Center for Colorectal Care, Children's Hospital Colorado, Aurora, CO

  • Male patient presents for evaluation.
  • Born in 2016 and diagnosed with Hirschsprung disease and underwent enterostomy (unclear if ileostomy or colostomy) performed after birth.
  • He underwent abdominal perineal pull-through thought to be a Soave technique.
  • Gastrostomy tube was placed because of poor feeding and weight gain.
  • Patient was subsequently adopted.
  • Presented to the emergency department because of abdominal distention, nausea, and fever.
  • Abdominal X-ray showed dilated loops of bowel. Rectal irrigations were initiated.
  • Patient improved with irrigations with improved weight gain and tolerance of diet.
  • Repeat abdominal X-ray showed large dilation.
  • Contrast enema should be obtained and a biopsy from the pull-through with examination of the anal canal.
  • Patient underwent an examination under anesthesia, which identified a normal anal canal, line of the colorectal anastomosis at 1 cm from the anal canal, redundant bowel in the pelvis, more on the left side, possible partial obstruction at 15 cm from the anus.
  • Biopsy of the neo-rectum showed colitis with abscess formation, absent ganglion cells confirmed by calretinin, submucosal fibers with proliferation and disorganization of the smooth muscle layers and hypertrophic nerve fibers.
  • Contrast enema showed dilation but the left colon looked narrow in one segment.
  • Based on these studies, it is most likely patient had an aganglionic pull-through.
  • Patient had a diaphragmatic hernia on the left side, which was visible on the imaging.
  • Laparotomy was performed with repair of the diaphragm. Laparotomy findings:
    • Terminal ileum entered the pelvis
    • Patient did not have colon
    • Large dilation of the small bowel, mesenteric defect, the previous pull-through was performed with small bowel and was twisted 360 degrees.
  • Ileostomy was performed.


  • When a patient with a history of Hirschprung disease presents with fever, nausea and vomiting, the patient most likely is having an episode of colitis. The treatment for this would be irrigations and Flagyl.
  • Fryns syndrome includes the association of Hirschprung disease and diaphragmatic hernia. These patients have abnormalities of connective tissues and sometimes limb abnormalities.
  • This case illustrates that in reoperation the preoperative imaging can be misleading and it is sometimes difficult to predict what will be found in the operating room.
  • Before committing to resection, it is important to complete identify the anatomy.


Patient Case Discussion

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