Tricks - Total Colonic Aganglionosis Associated with Malrotation & Multiple...

Infant presented with delayed passage of meconium of more than 48 hours, but passed meconium after digital rectal examination and was kept for observation.

At day 7 of age, infant presented with signs and symptoms of Hirschsprung disease including abdominal distension and tight rectum with passage of explosive stool after removing examining finger.

Full thickness rectal biopsy confirmed the absence of ganglion cells.

At laparotomy for colostomy creation, malrotation with multiple bands was found: one band between loops of bowel, one between bowel and liver, and one between bowel and abdominal wall.

Collapsed colon and dilated ileum with typical cone segment were observed at surgery.

All bands were released and ileostomy was created; biopsies from appendix and terminal ileum confirmed total colonic aganglionosis.

Postoperatively, infant was given IV fluids, antibiotics, and total parenteral nutrition; after bowel function returned, feeding was started with Ensure high-calorie formula with vitamin B12 supplementation.

Infant developed multiple episodes of dehydration requiring hospital admission for IV fluid replacement.

At 70 days of age (now 4 months at time of presentation), infant's weight was 3.5 kg, indicating slow weight gain.

Only a few cases have been reported of total colonic aganglionosis associated with malrotation: Philone reported 4 patients, Kors reported 1 patient, and 3 patients were reported by others; no cases have been reported with all three anomalies (total colonic aganglionosis, malrotation, and congenital bands).

Congenital bands in this case are rare; etiology is unknown but could be attributed to abnormal bowel rotation or other developmental findings.

The typical scenario for malrotation with Hirschsprung disease is a child with bilious vomiting who undergoes Ladd procedure for malrotation, but then fails to open up postoperatively, prompting investigation that reveals total colonic aganglionosis.

After Ladd procedure, if the baby does not open up, other potential causes for bilious vomiting must be considered, including Hirschsprung disease.

When malrotation is associated with Hirschsprung disease, the segments are usually short, not total colonic, following the same distribution as Hirschsprung disease in general.

For total colonic Hirschsprung disease, the preferred operation is Duhamel because it is simple, safe, and provides a reservoir at the bottom, which Soave does not.

Timing of definitive repair should be based on consistency of ileostomy output rather than age or weight; repair should be delayed until output firms up, which usually occurs when the infant starts solid food.

Infants do not do well if definitive repair is performed too early when ileostomy output is still very liquid.

For long-segment or total colonic Hirschsprung disease, Duhamel is the taught and used procedure, but the modern approach uses a relatively short piece of colon to create a small reservoir rather than the long Martin modification.

Good continence control in long-segment Hirschsprung disease is achieved in only about 50% of patients; the data on outcomes is not great.

When aganglionosis extends more than 50 cm proximal to the ileocecal valve into small bowel, it represents a much more progressive disease with a bigger dysmotility element, and classic operations are less likely to provide a simple fix.

There is no evidence in the literature that any particular procedure (Duhamel vs Soave) is superior for long-segment Hirschsprung disease; surgeons should use the procedure with which they have the best results.

In infants with ileostomy who are not gaining weight despite adequate calories and normal blood tests, sodium loss should be investigated by checking sodium levels in the ileostomy effluent.

Serum sodium will remain normal for many months before decreasing, so checking effluent sodium is necessary to detect losses early.

If ileostomy effluent contains more than 5 to 7 mEq/L of sodium, the infant will not gain weight.

The infant must be gaining weight and growing before proceeding with definitive surgical repair.

Measuring urinary sodium is the best way to guide sodium replacement therapy in infants with ileostomy.

Every baby with an ileostomy should probably receive sodium supplementation.

Iron deficiency is a significant long-term issue in children after any repair for Hirschsprung disease, though not an immediate concern in young infants.

For total colonic Hirschsprung disease, if Soave procedure is chosen, the surgeon should wait until the baby grows and the ileostomy is thicker before performing definitive repair.

After Soave or other procedures for total colonic disease, bulking agents or antidiarrheal agents can help manage stool consistency.

Some patients who underwent Duhamel abroad returned with problems including enterocolitis, obstruction, and distension of the Duhamel pouch.

Monitoring ileostomy output before deciding on definitive procedure is critically important.

Some patients who had ileoanal anastomosis developed severe perianal erosion requiring protective ileostomy and treatment before further procedures could be performed.

Patients with total colonic Hirschsprung disease should be managed with a long-term perspective rather than focusing only on immediate surgical decisions.

For regular (non-total colonic) Hirschsprung disease patients, Soave procedure does not result in incontinence if the procedure is performed correctly without damaging the sphincters.