Een zeldzame oorzaak van meconium ileus

Abstract

A rare cause of meconium ileus A newborn was admitted to the neonatal intensive care unit due to a gastrointestinal obstruction and respiratory failure. Based on a diagnostic laparoscopy, the diagnosis of meconium ileus was made and 2 ileostomies were created. Genetic testing for cystic fibrosis was performed. Postoperatively, respiratory failure persisted with extubation failure on day 5. A few days later, a new attempt was successful. Because of repeated apnea and severe hypoventilation, BiPAP (bilevel positive airway pressure) was necessary. Genetic testing for cystic fibrosis turned out to be negative on day 13. The hypoventilation, the negative genetics for cystic fibrosis and a new gastrointestinal obstruction led to an alternative and more rare diagnosis: Haddad syndrome. This condition was first described by G. Haddad as the combination of congenital central hypoventilation syndrome (CCHS) and Hirschsprung’s disease. Both are the result of autonomic dysfunction and are due to a mutation in the PHOX2B gene, which plays a role in the embryological development of the autonomic nervous system from the neural crest. Different types of mutations have been described with implications for the clinic, comorbidities and prognosis.