Haddad Syndrome: A Case of Congenital Central Hypoventilation Syndrome Combined with Hirschsprung Disease

Abstract

Congenital central hypoventilation syndrome (CCHS) with Hirschsprung disease (HD), also known as Haddad syndrome, is an extremely rare disorder. Recent studies have identified the paired like homeobox 2b (PHOX2B) gene as the major gene involved in the development of CCHS. The syndrome is diagnosed when gene analysis confirms a mutation in the involved gene, but making an early diagnosis is difficult because of the rarity of the disease. In this study, we report the case of a newborn male with recurrent hypoventilation and bowel distension. HD was suspected on barium enema, and loop ileostomy was performed. After surgery, the abdominal symptoms gradually improved, but extubation was not possible owing to recurrent respiratory failure. These clinical manifestations were indicative of Haddad syndrome, and genetic testing confirmed the presence of a PHOX2B mutation. The patient was diagnosed with Haddad syndrome on the 11th day after birth.