A Case of Haddad Syndrome

The combination of Congenital central hypoventilation syndrome with Hirschsprung's disease, also known as Haddad syndrome, belongs to the family of diseases now designated as Neurocristopathies. We have experienced a case of Haddad syndrome in a male infant who presented with repetitive abdominal distension, bilious vomiting, and sleep apnea. Following colon study and rectal biopsy disclosed the absence of the ganglion cell. And the infant could not be weaned from mechanical ventilation since birth because of the absence of effective, spontaneous respiration during sleep. As he was diagnosed as Haddad syndrome, tracheostomy and ileostomy were performed consecutively. At the age of 4 months, he was relatively healthy but remained ventilator-dependent. We report the first Korean case of Haddad syndrome with a brief review of the related literature.