Skip segment Hirschsprung disease and Waardenburg syndrome

Abstract

Skip segment Hirschsprung disease describes a segment of ganglionated bowel between two segments of aganglionated bowel. It is a rare phenomenon that is difficult to diagnose. We describe a recent case of skip segment Hirschsprung disease in a neonate with a family history of Waardenburg syndrome and the genetic profile that was identified.

Keywords

• Skip segment aganglionosis
• Hirschsprung disease
• Waardenburg syndrome
• Neonatal obstruction