All issues > Volume 49(4); 2006

Case Report

Korean J Pediatr. 2006;49(4):446-450. Published online April 15, 2006.

Congenital central I42hypoventilation syndrome combined with Hirschsprung disease diagnosed in the neonatal period

Jin Hyun JH Choi¹, Jin Hee JH Oh¹, Jong-Hyun JH Kim¹, Dae Kyun DK Koh¹, Seung-Chul SC Hong¹

¹Departments of Pediatrics, College of Medicine, The Catholic University of Korea, Seoul, Korea

Correspondence Jin Hee JH Oh ,Email: Jeeny@catholic.ac.kr

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.

Keywords :Congenital , Central , Hypoventilation , Neonate , Polysomnography