4-Year-Old Male Patient: Evolution of Treatment

Case Summary

• 4-yr-old male patient originally presented for evaluation on day of life 15 due to abdominal distention, vomiting, and suppository dependence.
• On initial presentation, he was admitted to the hospital.
• Abdominal radiographs showed severe bowel dilation.
• Rectal irrigations were initiated, and a repeat radiograph showed a decompressed bowel.
• On the 3rd day after rectal irrigations were initiated, he started on oral feeds, which were tolerated well.
• Rectal biopsy showed aganglionosis in the submucosal plexus, calretinin negative and no hypertrophic nerves.
• 2 d later a contrast enema was obtained.
• Since the colon was decompressed with rectal irrigations and the contrast enema showed a transition zone, a transanal protectomy and pull-through of the left colon were performed. The transanal approach began with placement of the Lone-Star retractor. The pectinate line was visible. After placing sutures 1.5 cm above the dentate line, a circumferential incision was made with electrocautery.
• Next, they began the full thickness transanal proctectomy. The hooks were used to protect the dentate line. The rectum was carefully dissected from the prostate and the urethra to prevent injury.
• The first full thickness colonic biopsy was obtained at 15 cm above the distal level of the proctectomy. This biopsy was aganglionic without hypertrophic nerves.
• Biopsies were also obtained at 20 and 25 cm above the distal level of the proctectomy. These were both aganglionic.
• Laparotomy was then performed, and a biopsy sent at the transverse colon, which was aganglionic.
• Another biopsy at the cecal appendix was also aganglionic. This patient had total colonic aganglionosis without transition zone. An ileum biopsy 12 cm proximal to the ileocecal valve was normoganglionic. A full-thickness pull-through of the normoganglionic ileum was performed.
• Ileostomy was placed 12 cm above the ileorectal anastomosis. The ileostomy would remain in place until the patient achieved urinary continence.
• Dilation program was prescribed, but patient did not return for follow up for 1 yr and stopped receiving dilations.
• Contrast ileostogram was performed at age 3.
• Examination under anesthesia was performed, the anal canal was intact.
• Patient was dilated with 15 and 16 Hegar dilator. Then Botox was injected above the pectinate line. The stomas were taken down. There was significant size discrepancy between the proximal and distal bowel.
• Santulli ileostomy was performed.
• Distal stoma was anastomosed 5 cm below the free end of the bowel.
• Five months after the Santulli procedure, the distal ileum showed some enlargement. The patient then passed 75% of the stool through the rectum. It caused perianal dermatitis and skin breakdown.
• Ileostomy closure was performed with staples.
• Patient was discharged one day after the ileostomy closure.

Takeaways

• Postoperatively, when reviewing the contrast enema again the transition zone is not visible, and the colon is without haustrations.
• In total colonic aganglionosis, the transition zone can be identified in a contrast enema in just 30% of the patients. The lack of visible haustrations is a good indicator.
• In patients with Hirschsprung disease, if the rectal biopsy does not show hypertrophic nerves it is likely that the patient will have long segment Hirschsprung disease or total colonic aganglionosis. There is almost a complete absence of the enteric nervous system in these cases.
• Injecting Botox in patients with total colonic aganglionosis is risky because these patients might have severe diaper rash for 3-6 wk.
• Patients should have complete urinary control both during the day and at night prior to offering a stoma closure in cases of total colonic aganglionosis.