Total Colonic Hirschsprung Disease with Malrotation: Difficult Cases

The infant presented with delayed passage of meconium of more than 48 hours, but passed meconium after examination.

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

Full thickness rectal biopsy confirmed the absence of ganglion cells.

On 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.

Biopsy from the appendix and terminal ileum proved total colonic aganglionosis.

Postoperatively, the infant received IV fluids, antibiotics, and total parenteral nutrition, then was started on high-calorie formula (Ensure) with vitamin B12 supplementation after bowel function returned.

The infant developed multiple attacks of dehydration requiring hospital admission for IV fluid replacement.

Only a few cases have been reported of total colonic Hirschsprung associated with malrotation: Philone reported 4 patients, one author reported 1 patient, and Zbra reported 3 patients, but no cases reported all three anomalies (total colonic Hirschsprung, malrotation, and congenital bands).

Congenital bands in this context are rare; the etiology is unknown but could be attributed to antenatal perforation of the bowel.

The usual scenario for malrotation with Hirschsprung is a child with bilious vomiting who gets a contrast study showing malrotation, undergoes Ladd procedure, but then doesn't open up, prompting reconsideration of other causes.

Once a Ladd procedure is done, if the baby doesn't open up, you must think about other potential causes for bilious vomiting.

Hirschsprung associated with malrotation is usually short segment, not total colonic, but follows the same distribution as Hirschsprung in general.

For total colonic Hirschsprung, 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, not age or weight; patients don't do well if operated too early when output is still liquidy.

It is preferable to wait until ileostomy output firms up, which usually happens when the infant gets onto solid food.

For long segment or total colonic Hirschsprung, a relatively short piece of colon should be left, creating a small reservoir rather than the longer Martin modification element.

Good control in long segment Hirschsprung disease is really about 50% of patients; the data really isn't that great.

When long segment Hirschsprung involves more than 50 cm from the ileocecal valve, it is a much more progressive disease with a bigger dysmotility element.

There is no evidence in the literature that any particular procedure should be done just because the patient has long segment Hirschsprung; the best approach is to use whatever procedure the surgeon has had the best results with.

Poor weight gain in an infant with ileostomy receiving adequate calories and normal blood tests often has to do with sodium loss.

Unless sodium levels in the effluent are checked, sodium loss will not be caught because serum sodium will be normal for many months before it starts to decrease.

If ileostomy output contains more than 5 to 7 mEq per liter of sodium, the baby will not grow or gain weight.

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

Measuring urinary sodium is the best way to guide how much sodium replacement to give.

Every baby with an ileostomy should probably get sodium supplementation.

Iron deficiency is a big long-term issue with any repairs in these patients and is often forgotten.

For total colonic Hirschsprung, if doing Soave or other procedure, you must wait until the baby grows and the ileostomy is thicker, then can continue with bulking agents or antidiarrheal agents.

Some patients who had Duhamel done abroad came back with problems including enterocolitis, obstruction, and distension of the Duhamel pouch.

The baby should be monitored for ileostomy output before deciding on any procedure; some patients with ileoanal anastomosis developed severe perianal erosion requiring protective ileostomy before further procedures.

Soave for regular Hirschsprung disease patients (not total colonic) does not result in incontinence if the procedure is followed well and sphincters are not damaged.