Journal of the Korean Society of Neonatology  2004;11(1):72-76

A Case of Ondine's Curse with Hirschsprung Disease.

In Ok HWANG 1 ; Eun Sil LEE

Affiliations

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Keywords

Congenital central alveolar hypoventilation; Hirschsprung disease

Country

Republic of Korea

Language

Korean

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.