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

Korean Journal of Pediatrics 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 Choi, Jin Hee Oh, Jong-Hyun Kim, Dae Kyun Koh, Seung-Chul Hong
Departments of Pediatrics, College of Medicine, The Catholic University of Korea, Seoul, Korea
신생아에서 진단된 Hirschsprung 병을 동반한 congenital central hypoventilation syndrome 1례
최진현, 오진희, 김종현, 고대균, 홍승철
가톨릭대학교 의과대학 소아과학교실
Correspondence: 
Jin Hee 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.
Key Words: Congenital , Central , Hypoventilation , Neonate , Polysomnography


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