Síndrome de Haddad: reporte de un caso y revisión de la literatura

Abstract

Central congenital hypoventilation syndrome, also known as Ondine's Curse, is a rare disease characterised by abnormal ventilation control in the absence of pulmonary, neuromuscular, neurological or cardiac disease. In twenty percent of the cases this condition is associated with Hirschsprung disease (called Haddad syndrome), and other altered development of neural crest-derived structures and/or tumours of neural crest origin (neuroblastoma, ganglioneuroma, and ganglioneuroblastoma). A case is presented, showing its clinical and genetic aspects, aetiology and treatment of a newborn with central hypoventilation and Hirschsprung disease.