J Korean Soc Neonatol.  2004 May;11(1):72-76.

A Case of Ondine's Curse with Hirschsprung Disease

• Hwang IO
• Lee ES

Abstract

Ondine's curse, also called congenital central alveolar hypoventilation, is a rare disorder involving failed automatic control of respiration in the absence of cardiopulmonary disease, resulting in inadequate ventilation with progressive hypercapnia and hypoxia during sleep. Although the exact pathophysiological mechanism remains unknown, it is thought that congenital defects in central chemoreceptor that originates from the neural crest cells may be responsible. This syndrome is often reported in association with Hirschsprung disease, and their co-occurrence suggests a common etiology, involving abnormal distribution and/or migration of neutral crest cells. We report a case of Ondine's curse with Hirschsprung disease in a 1-day-old neonate required endotracheal intubation and assisted ventilation.

Keyword

Congenital central alveolar hypoventilation; Hirschsprung disease

MeSH Terms

Anoxia
Congenital Abnormalities
Hirschsprung Disease*
Humans
Hypercapnia
Infant, Newborn
Intubation, Intratracheal
Neural Crest
Respiration
Sleep Apnea, Central
Ventilation