Haddad syndrome presenting with abdominal distension associated with long-segment aganglionosis

Abstract

Haddad syndrome is a form of neurocristopathy characterized by a combination of congenital central hypoventilation syndrome and Hirschsprung disease (HD). Although Haddad syndrome is extremely rare, awareness of the combination of long-segment HD in Haddad syndrome as well as radiographic manifestations may help to ensure a timely diagnosis as well as to facilitate optimal treatment of this unusual condition. We report a case of Haddad syndrome with long-segment, intestinal aganglionosis in a newborn infant. This report emphasizes the features of HD in children with Haddad syndrome and suggests that specific attention be given to its interpretation on plain radiographs.