Hirschsprung Disease: 5-Year-Old Boy with Obstructive Symptoms

• Male patient was first evaluated on day 2 of life in the NICU due to abdominal distention, mild bilious emesis, and failure to pass meconium.
• On exam, he had distended abdomen, rectal exam with explosive stools and gas.
• Abdominal radiograph showed colonic distention.
• Contrast enema showed sigmoid transition zone.
• Rectal biopsies showed evidence of Hirschsprung disease as it did not have ganglion cells.
• Rectal irrigations were initiated three times per day.
• He gained weight and had no obstructive symptoms.
• Trans-anal Suave was performed at 6 weeks of age. He was discharged on postoperative day 2.
• Following the surgery, the baby did very well. He did not require dilations. He was seen for follow up visits at 2 wk, 4 wk, 3 mo, 6 mo, and 1 year.
• At 18 mo, he represented with difficulty passing flatus, intermittent abdominal distention and chronic leakage of soft stool.
• On exam, abdomen was moderately distended but soft and nontender.
• Rectal exam was performed and was free from stenosis or palpable cuff. He was noted to have semi-solid stool.
• Contrast enema showed distended colon with an area that looked like it could be a transition zone. The pathology was reviewed and confirmed normal ganglion cells.
• Anorectal exam under anesthesia did not show stenosis or palpable cuff.
• Deep rectal biopsy was obtained, and patient had ultrasound guided injection of botulinum toxin into the internal sphincter. Biopsy showed normal ganglion cells and normal nerves.
• There was some improvement in symptoms after botulinum toxin injections, but the improvement only lasted a couple of months then symptoms returned.
• Patient underwent a course of Botox injections 3 mo apart.
• Symptoms improved but the length of time that the results lasted became shorter with each subsequent injection.
• At 4 yr, he became continent of urine and stool. He was still having accidents of stool 2-3 times per week. He persistently had difficulty passing gas with intermittent abdominal distention.
• Stool continued to be semi-solid. He was noted to have a decrease in appetite and poor weight gain.

Takeaways

• It is important for the families to understand that surgery for Hirschsprung disease will remove the aganglionic portion of the bowel, but the ganglionic portion does not function normally. A patient with Hirschsprung disease will have Hirschsprung disease for life.
• When the aganglionic section of the bowel is resected, the dilated portion of the bowel should also be removed.
• One month after a pull-through procedure the patient should come back to clinic for a digital exam. If the ring of the anastomosis is palpable, dilations should be initiated.
• Once babies start initiating solid food into the diet, it is important to monitor their bowel function. Breastmilk and formula are more easily digestible than solid foods.
• The best treatments for subclinical enterocolitis are rectal irrigations and Flagyl.
• The patients should receive both three times per day for 1 mo. If the patient is doing well after 1 mo then it can be reduced to twice per day. Then follow up in one more month and reduced to once daily if clinically well and the abdominal radiograph looks free from distention and significant stool burden.
• Stimulant laxatives are preferred because it helps to provoke a bowel movement.
• Irrigations are indicated for liquid stool not for solid stool.
• The likelihood of enterocolitis decreases as patients get older.