Seminars in Pediatric Neurology
Volume 15, Issue 4 , Pages 157-159 , December 2008

A 2-Year Old With No Ventilator Requirement but Who Cannot Be Extubated

  • Robert Little, MD

      Affiliations

    • Corresponding Author InformationAddress reprint requests to Robert Little, MD, Phoenix Children's Hospital, 1919 E Thomas Road, Phoenix, AZ 85016

References 

  1. Mellins RB, Balfour HH, Turino GM, et al. Failure of automatic control of ventilation (Ondine's curse). Medicine. 1970;49:487–504
  2. Nannapaneni R, Behari S, Todd NV, et al. Retracing “Ondine's curse”. Neurosurgery. 2005;57:354–363
  3. American Thoracic Society. Idiopathic congenital central hypoventilation syndrome: Diagnosis and management. Am J Respir Crit Care Med. 1999;160:368–373
  4. Amiel J, Laudier B, Attie-Bitach T, et al. Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome. Nat Genet. 2003;33:459–461
  5. Doherty LS, Kiely JL, Deegan PC, et al. Late-onset central hypoventilation syndrome: A family genetic study. Eur Respir J. 2007;29:312–316
  6. Berry-Kravis EM, Zhou L, Rand CM, et al. Congenital central hypoventilation syndrome: PHOX2B mutations and phenotype. Am J Respir Crit Care Med. 2006;174:1139–1144
  7. Weese-Mayer DE, Berry-Kravis EM. Genetics of congenital central hypoventilation syndrome: Lessons from a seemingly orphan disease. Am J Respir Crit Care Med. 2004;170:16–21
  8. Antic NA, Malow BA, Lange N, et al. PHOX2B mutation-confirmed congenital central hypoventilation syndrome: Presentation in adulthood. Am J Respir Crit Care Med. 2006;174:923–927
  9. van Limpt V, Chan A, Schramm A. Phox2B mutations and the Delta-Notch pathway in neuroblastoma. Cancer Lett. 2005;228:59–63
  10. Bourdeaut F, Trochet D, Janoueix-Lerosey I, et al. Germline mutations of the paired-like homeobox 2B (PHOX2B) gene in neuroblastoma. Cancer Lett. 2005;228:51–58
  11. Ize-Ludlow D, Gray JA, Sperling MA, et al. Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation presenting in childhood. Pediatrics. 2007;120:e179–e188
  12. Bachetti T, Robbiano A, Parodi S, et al. Brainstem anomalies in two patients affected by congenital central hypoventilation syndrome. Am J Respir Crit Care Med. 2006;174:706–709
  13. Pattyn A, Hirsch M, Goridis C, et al. Control of hindbrain motor neuron differentiation by the homeobox gene Phox2b. Development. 2000;127:1349–1358
  14. Dubreuil V, Ramanantsoa N, Trochet D, et al. A human mutation in Phox2b causes lack of CO2 chemosensitivity, fatal central apnea, and specific loss of parafacial neurons. Proc Nat Acad Sci U S A. 2008;105:1067–1072
  15. Ramanantsoa N, Vaubourg V, Dauger S, et al. Ventilatory response to hyperoxia in newborn mice heterozygous for the transcription factor Phox2b. Am J Physiol Regulatory Integrative Comp Physiol. 2006;290:R1691–R1696
  16. Stornetta RL, Moreira TS, Takakura AC, et al. Expression of Phox2b by brainstem neurons involved in chemosensory integration in the adult rat. J Neurosci. 2006;26:10305–10314
  17. Huber K, Ernsberger U. Cholinergic differentiation occurs early in mouse sympathetic neurons and requires Phox2b. Gene Expression. 2006;13:133–139
  18. Huber K, Karch N, Ernsberger U, et al. The role of Phox2B in chromaffin cell development. Dev Biol. 2005;279:501–508
  19. Dauger S, Pattyn A, Lofaso F, et al. Phox2b controls the development of peripheral chemoreceptors and afferent visceral pathways. Development. 2003;130:6635–6642
  20. de Pontual L, Nepote V, Attie-Bitach T, et al. Noradrenergic neuronal development is impaired by mutation of the proneural HASH-1 gene in congenital central hypoventilation syndrome (Ondine's curse). Hum Mol Genet. 2003;12:3173–3180
  21. Adachi M, Browne D, Lewis EJ. Paired-like homeodomain proteins Phox2a/Arix and Phox2b/NBPhox have similar genetic organization and independently regulate dopamine beta-hydroxylase gene transcription. DNA Cell Biol. 2000;19:539–554
  22. Pattyn A, Morin X, Cremer H, et al. The homeobox gene Phox2b is essential for the development of autonomic neural crest derivatives. Nature. 1999;399:366–370
  23. Ali A, Flageole H. Diaphragmatic pacing for the treatment of congenital central alveolar hypoventilation syndrome. J Pediatr Surg. 2008;43:792–796

PII: S1071-9091(08)00071-5

doi: 10.1016/j.spen.2008.09.004

Seminars in Pediatric Neurology
Volume 15, Issue 4 , Pages 157-159 , December 2008