Korean J Pediatr.  2006 Apr;49(4):446-450. 10.3345/kjp.2006.49.4.446.

Congenital central hypoventilation syndrome combined with Hirschsprung disease diagnosed in the neonatal period

• Choi JH
• Oh JH
• Kim JH
• Koh DK
• Hong SC

• KMID: 2140912
• DOI: http://doi.org/10.3345/kjp.2006.49.4.446

Abstract

Congenital central hypoventilation syndrome (CCHS) or Ondine's curse is a very rare sleep disorder that is the result of a congenital failure of the autonomic control of ventilation caused by insensitivity of the chemoreceptor to hypercapnea during sleep. Gastrointestinal motility disorders, particularly a congenital megacolon (Hirschsprung disease) is often combined with CCHS. This combination can be explained by a defect in the migration of neuronal cells from the neural crest (neurocristopathy) during the intrauterine period. A diagnosis of CCHS is made by confirming the failure of adequate ventilation in response to hypercapnea and hypoxia during sleep and the exclusion of other diseases. Young infants frequently show atypical clinical courses, and their conditions are frequently complicated with the long-term sequela of hypoxemic episodes. Therefore, a high index of suspicion and active treatment with mechanical ventilation are important for reducing recurrent hypoxemic episodes in the neonatal period. This paper reports the follow up of a case of CCHS in a neonate who showed frequent intractable apnea and cyanosis and was given artificial mechanical ventilation during sleep.

Keyword

Congenital; Central; Hypoventilation; Neonate; Polysomnography

MeSH Terms

Anoxia
Apnea
Cyanosis
Diagnosis
Follow-Up Studies
Gastrointestinal Motility
Hirschsprung Disease*
Humans
Hypoventilation*
Infant
Infant, Newborn
Neural Crest
Neurons
Polysomnography
Respiration, Artificial
Ventilation