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.

Keywords

• Malrotation
• Hirschsprung
• Concomitant diagnoses
• Ladd procedure