Male Patient Born with Hirschsprung Disease

• 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.

Takeaways

• 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.