Browse > Article

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

Choi, Jin Hyun (Department of Pediatrics, College of Medicine, The Catholic University of Korea)
Oh, Jin Hee (Department of Pediatrics, College of Medicine, The Catholic University of Korea)
Kim, Jong-Hyun (Department of Pediatrics, College of Medicine, The Catholic University of Korea)
Koh, Dae Kyun (Department of Pediatrics, College of Medicine, The Catholic University of Korea)
Hong, Seung-Chul (Department of Psychiatry, College of Medicine, The Catholic University of Korea)
Publication Information
Clinical and Experimental Pediatrics / v.49, no.4, 2006 , pp. 446-450 More about this Journal
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;
Citations & Related Records
연도 인용수 순위
  • Reference
1 Haddad GG, Mazza NM, Defendini R, Blanc WA, Driscoll JM, Epstein MA, et al. Congenital failure of automatic control of ventilation, gastrointestinal motility and heart rate. Medicine 1978;57:517-26   DOI
2 Ahn YM, Choi HR, Lee HJ, Dong ES, Hong SJ, Moon HN, et al. A case of congenital central hypoventilation syndrome with Hirschsprung's disease. Pediatr Allergy Respir Dis(Korea) 1993;3:113-20
3 Weese-Mayer DE, Shannon DC, Keens TG, Silvestri JM. Idiopathic congenital central hypoventilation syndrome : diagnosis and management. Am J Resp Crit Care Med 1999; 160:368-73   DOI   ScienceOn
4 Sritippayawan S, Hamutcu R, Kun SS, Ner Z, Ponce M, Keens TG. Mother-daughter transmission of congenital central hypoventilation syndrome. Am J Respir Crit Care Med 2002;166:367-9   DOI   ScienceOn
5 Fleming PJ, Cade D, Bryan MH, Bryan AC. Congenital central hypoventilation and sleep state. Pediatrics 1980;66: 425-8
6 Macey, PM, Valderama C, Kim AH, Woo MA, Gozal D, Keens TG, et al. Temporal trends of cardiac and respiratory responses to ventilatory challenges in congenital central hypoventilation syndrome. Pediatr Res 2004;55:953-9.   DOI   ScienceOn
7 Gozal D. Congenital central hypoventilation syndrome : an update. Pediatr Pulmonol 1998;26:273-82   DOI   ScienceOn
8 Chen ML, Keens TG. Congenital central hypoventilation syndrome : not just another rare disorder. Paediatr Respir Rev 2004;5:182-9   DOI   ScienceOn
9 Tilman R, Daniel T, Gabriele E, Jurg H. Congenital central hypoventilation syndrome associated with Hirschsprung's disease and neuroblastoma. Pediatr Pulmonol 2002;33:71-6   DOI   ScienceOn
10 Croaker GDH, Shi E, Simpson E, Cartmill T, Cass DT. Congenital central hypoventilation syndrome and Hirschsprung's disease. Arch Dis Child 1998;78:316-22   DOI
11 Gozal D, Simakajornboon N. Passive motion of the extremities modifies alveolar ventilation during sleep in patients with congenital central hypoventilation syndrome. Am J Respir Crit Care Med 2000;162:1747-51   DOI   ScienceOn
12 Mellins RB, Balfour HH, Turino GM, Winters RW. Failure of automatic control of ventilation (Ondine's curse) : report of an infant born with this syndrome and review of the literature. Medicine 1970;49:487-504   DOI
13 Barlow PB, Bartlett D Jr, Hauri P, Hellekson C, Nattie EE, Remmers JE, et al. Idiopathic hypoventilation syndrome : importance of preventing nocturnal hypoxemia an hypercarbia. Am Res Respir Dis 1980;121:141-5
14 Gozal D, Marcus CL, Shoseyov D, Keens TG. Peripheral chemoreceptor function in the congenital central hypoventilation syndrome. J Appl Physiol 1993;74:379-87   DOI
15 Faure C, Viarme F, Cargill G, Navarro J, Gaultier C, Trang H. Abnormal esophageal motility in children with congenital central hypoventilation syndrome. Gastroenterology 2002;122:1258-63   DOI   ScienceOn
16 Guilleminault C, McQuitty J, Ariagno RL, Challamel MJ, Korobkin R, McClead RE Jr. Congenital central alveolar hypoventilation syndrome in six infants. Pediatrics 1982; 156:866-78
17 Khalifa MM, Flavin MA, Wherrett BA. Congenital central hypoventilation syndrome in monozygotic twins. J Pediatric 1988;113:853-5   DOI
18 Migliori C, Cavazza A, Motta M, Bottino R, Chirico G. Early use of Nasal-BiPAP in two infants with congenital central hypoventilation syndrome. Acta Pediatr 2003:92:823- 6   DOI