Haddad syndrome: a case report

Abstract

Congenital central hypoventilation syndrome is a very rare genetic disorder. The disease involves respiratory failure associated with impaired central control of the breathing process. Hirschsprung’s disease is the cause of congenital intestinal obstruction as a result of the agenesis of ganglion cells in the submucosal and myenteric plexuses. If congenital central hypoventilation syndrome and Hirschsprung’s disease occur simultaneously, Haddad syndrome is diagnosed. A male infant was born at 37 weeks of gestation in a moderate general condition. Due to increasing respiratory effort and increased demand for oxygen, the newborn was intubated and mechanically ventilated. During an extubation attempt, respiratory symptoms intensified, and CO2 was accumulating on blood gas test. Genetic tests revealed a mutation in the PHOX2B gene, which confirmed congenital central hypoventilation syndrome. Lack of meconium and enteral nutrition intolerance were observed. Hirschsprung’s disease was diagnosed on the basis of intestinal biopsy. Loop ileostomy was created at 5 weeks of life. Due to coexistence of congenital central hypoventilation syndrome and Hirschsprung’s disease, Haddad syndrome was diagnosed.