Familial intestinal malrotation and cleft lip and palate: A case report

Abstract

Introduction

The etiology of intestinal malrotation is unknown and it can occur in isolation or with other congenital anomalies. Although case reports have reported genetic etiologies of intestinal malrotation, association with cleft lip and palate is rare.

Case presentation

A 37 1/7-week male infant was born via C-section with a birth weight of 3270g and a prenatal diagnosis of cleft lip and palate. His Apgar scores at 1 and 5 minutes were 7 and 8, respectively, and he briefly required continuous positive airway pressure in the delivery room before weaning to room air. The infant was admitted to the neonatal intensive care unit for hypoglycemia and poor feeding. On day of life twelve, he developed bloody stools, metabolic acidosis, and abdominal distention, which progressed to respiratory failure, coagulopathy, and hypovolemic shock. Abdominal x-rays demonstrated a stomach bubble with paucity of distal gas. An abdominal ultrasound demonstrated inversion of the superior mesenteric vein and artery, which was highly suggestive of an intestinal malrotation with midgut volvulus. The patient underwent an emergent Ladd procedure without bowel resection. He had an uneventful postoperative recovery, with progression to full enteral feedings. The patient's older half sibling also had cleft lip and palate, experienced recurrent vomiting, and was diagnosed with malrotation requiring an elective Ladd procedure.

Conclusion

This case study suggests that the association of cleft lip and palate and intestinal malrotation may have a genetic background. Newborns who have cleft lip and palate who have siblings with this association should undergo imaging studies to rule out intestinal malrotation.