Clinical and Experimental Pediatrics

The Korean Pediatric Society (대한소아청소년과학회)
권호 표지

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

신생아에서 진단된 Hirschsprung 병을 동반한 congenital central hypoventilation syndrome 1례

  • 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)
  • 최진현 (가톨릭대학교 의과대학 소아과학교실) ;
  • 오진희 (가톨릭대학교 의과대학 소아과학교실) ;
  • 김종현 (가톨릭대학교 의과대학 소아과학교실) ;
  • 고대균 (가톨릭대학교 의과대학 소아과학교실) ;
  • 홍승철 (가톨릭대학교 의과대학 정신과학교실)
  • Received : 2005.10.12
  • Accepted : 2005.11.18
  • Published : 2006.04.15
Download PDF
⟨ Previous Next ⟩

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.

Congenital central hypoventilation syndrome은 혈중 이산화탄소 증가와 저산소에 대한 자율 신경계와 호흡 조절 기능의 선천성 결함으로 호흡의 저환기가 주로 수면시에 발생하는 질환이다. 이는 신경 이주장애 질환(neurocristopathy)에 속한다고 알려져 있으며 선천성 거대결장 등의 질환과 잘 동반된다. 아직까지 확실한 완치법은 없는 상태이고 환아들은 평생을 환기 보조에 의존하여 생존해야 하며 적절한 환기 보조를 통해서 생존 기간을 연장할 수 있다. 저자들은 출생시부터 반복되는 수면시의 무호흡과 청색증이 있는 환아에서 congenital central hypoventilation 및 선천성 거대 결장이 동반된 1례를 경험하였기에 보고하는 바이다.

Keywords

References

  1. 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 https://doi.org/10.1097/00005792-197011000-00003
  2. 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 https://doi.org/10.1097/00005792-197811000-00003
  3. 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
  4. 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 https://doi.org/10.1164/ajrccm.160.1.16010
  5. Gozal D, Marcus CL, Shoseyov D, Keens TG. Peripheral chemoreceptor function in the congenital central hypoventilation syndrome. J Appl Physiol 1993;74:379-87 https://doi.org/10.1152/jappl.1993.74.1.379
  6. Fleming PJ, Cade D, Bryan MH, Bryan AC. Congenital central hypoventilation and sleep state. Pediatrics 1980;66: 425-8
  7. 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
  8. 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. https://doi.org/10.1203/01.PDR.0000125262.82405.3C
  9. Khalifa MM, Flavin MA, Wherrett BA. Congenital central hypoventilation syndrome in monozygotic twins. J Pediatric 1988;113:853-5 https://doi.org/10.1016/S0022-3476(88)80016-7
  10. 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 https://doi.org/10.1164/rccm.2112087
  11. 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 https://doi.org/10.1053/gast.2002.33062
  12. Chen ML, Keens TG. Congenital central hypoventilation syndrome : not just another rare disorder. Paediatr Respir Rev 2004;5:182-9 https://doi.org/10.1016/j.prrv.2004.04.009
  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. Congenital central hypoventilation syndrome : an update. Pediatr Pulmonol 1998;26:273-82 https://doi.org/10.1002/(SICI)1099-0496(199810)26:4<273::AID-PPUL7>3.0.CO;2-C
  15. 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 https://doi.org/10.1002/ppul.10031
  16. 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 https://doi.org/10.1136/adc.78.4.316
  17. 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 https://doi.org/10.1080/08035250310002849
  18. 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 https://doi.org/10.1164/ajrccm.162.5.2005012