Hirschsprung disease and intestinal malrotation: A rare association with unique perioperative considerations

Abstract

Background

Multiple etiologies exist for neonatal intestinal obstruction with similar presenting symptoms. While single etiology is the most common cause, concomitant surgical diagnoses exist requiring unique peri‑operative considerations. We present a retrospective review of 5 patients with a rare association of Hirschsprung disease (HD) and intestinal malrotation.

Methods

After IRB approval, patients were identified utilizing Data Direct and Electronic Medical Records ID with pathologically confirmed HD and intestinal malrotation from a single institution and retrospective review was performed.

Results

Five patients were identified with the concomitant malrotation and HD diagnoses over a 15-year period. Intestinal malrotation was confirmed by intra-operative findings. HD was confirmed in all patients by rectal biopsy. Feeding intolerance was the most common chief complaint. A contrast enema was the initial diagnostic test of choice in 3 of 5 of patients. All patients underwent a Ladd procedure, including appendectomy, during the index admission. Two of 5 patients underwent surgical management for HD during the index admission, while surgery was delayed in the remaining 3.

Conclusions

Association between HD and malrotation causing intestinal obstruction has been previously described, albeit rare. The two diagnoses can present similarly in neonatal patients; although, the underlying pathophysiology, work up and surgical management is quite different. Traditionally, a Ladd procedure is performed utilizing an open approach and includes an appendectomy. However, patients undergoing a Ladd procedure with high suspicion of HD pre-operatively pose unique considerations. We present data of 5 patients to highlight unique considerations regarding diagnostic work up and operative planning.