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Central Hypoventilation Syndromes

  • Iris A. PerezEmail author
  • Thomas G. Keens
  • Sally L. Davidson Ward
Chapter
Part of the Respiratory Medicine book series (RM)

Abstract

Central hypoventilation syndromes are complex congenital or acquired conditions resulting from inadequate central respiratory drive. Affected individuals cannot adequately match ventilation to metabolic demands minute to minute, and thus develop alveolar hypoventilation. Mild hypoventilation may occur during sleep only, but life-threatening hypercapnia can occur during both sleep and wakefulness, and may be associated with significant hypoxemia, as well as with obstructive apneas and central apneas. All patients suffering from hypoventilation usually require assisted ventilation for management of their chronic respiratory failure. Options for ventilatory support include positive pressure ventilation via tracheostomy, noninvasive positive pressure ventilation, diaphragm pacing or negative pressure ventilation. Choice of the ventilatory support depends on the severity of the alveolar hypoventilation, any ­coexisting disabilities, the prognosis of the underlying disorder, and patient and ­family preferences.

Keywords

Obstructive Sleep Apnea Obstructive Sleep Apnea Syndrome Chiari Malformation Noninvasive Positive Pressure Ventilation Joubert Syndrome 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

References

  1. 1.
    Chen ML, Keens TG. Congenital central hypoventilation syndrome: not just another rare disorder. Paediatr Respir Rev. 2004;5:182–9.PubMedGoogle Scholar
  2. 2.
    Keens TG, Davidson Ward SL. Syndromes affecting respiratory control during sleep. In: Loughlin GM, Marcus CL, Carroll JL, editors. Sleep and breathing in children: a developmental approach, Lung biology in health and disease series. New York: Marcel Dekker, Inc; 2000. p. 525–53.Google Scholar
  3. 3.
    Kuna ST, Smickley JS, Murchison LC. Hypercarbic periodic breathing during sleep in a child with a central nervous system tumor. Am Rev Respir Dis. 1990;142:880–3.PubMedGoogle Scholar
  4. 4.
    Hui SH, Wing YK, Poon W, et al. Alveolar hypoventilation syndrome in brainstem glioma with improvement after surgical resection. Chest. 2000;118:266–8.PubMedGoogle Scholar
  5. 5.
    Brouillette RT, Hunt CE, Gallemore GE. Respiratory dysrhythmia: a new cause of central alveolar hypoventilation. Am Rev Respir Dis. 1986;134:609–11.PubMedGoogle Scholar
  6. 6.
    Lassman AB, Mayer SA. Paroxysmal apnea and vasomotor instability following medullary infarction. Arch Neurol. 2005;62:1286–8.PubMedGoogle Scholar
  7. 7.
    Chen ML, Witmans MB, Tablizo MA, et al. Disordered respiratory control in children with partial cerebellar resections. Pediatr Pulmonol. 2005;40:88–91.PubMedGoogle Scholar
  8. 8.
    Perez IA, Keens TG, Ward SL. Noninvasive positive pressure ventilation in the treatment of hypoventilation in children. Sleep Med Clin. 2010;3(3):471–84.Google Scholar
  9. 9.
    Macey PM, Woo MA, Macey KE, et al. Hypoxia reveals posterior thalamic, cerebellar, midbrain and limbic deficits in congenital central hypoventilation syndrome. J Appl Physiol. 2005;98:958–69.PubMedGoogle Scholar
  10. 10.
    Harper RM, Macey PM, Woo MA, et al. Hypercapnic exposure in congenital hypoventilation syndrome reveals CNS respiratory control mechanisms. J Neurophysiol. 2005;93:1647–58.PubMedGoogle Scholar
  11. 11.
    Kumar R, Macey PM, Woo MA, et al. Neuroanatomic deficits in congenital central hypoventilation syndrome. J Comp Neurol. 2005;487:361–71.PubMedGoogle Scholar
  12. 12.
    Woo MA, Macey PM, Macey KE, et al. FMRI responses to hyperoxia in congenital central hypoventilation syndrome. Pediatr Res. 2005;57:510–8.PubMedGoogle Scholar
  13. 13.
    Paton JY, Swaminathan S, Sargent CW, et al. Hypoxic and hypercapnic ventilatory responses in awake ­children with congenital central hypoventilation ­syndrome. Am Rev Respir Dis. 1989;140:368–72.PubMedGoogle Scholar
  14. 14.
    Swaminathan S, Paton JY, Ward SL, et al. Abnormal control of ventilation in adolescents with myelodysplasia. J Pediatr. 1989;115:898–903.PubMedGoogle Scholar
  15. 15.
    Shea SA, Andres LP, Shannon DC, et al. Respiratory sensations in subjects who lack a ventilatory response to CO2. Respir Physiol. 1993;93:203–19.PubMedGoogle Scholar
  16. 16.
    Severinghaus J, Mitchell RA. Ondine’s curse—failure of respiratory center automaticity while awake. Clin Res. 1962;10:122.Google Scholar
  17. 17.
    Mellins RB, Balfour Jr HH, Turino GM, et al. Failure of automatic control of ventilation (Ondine’s curse). Medicine. 1970;49:487–504.PubMedGoogle Scholar
  18. 18.
    Weese-Mayer DE, Berry-Kravis EM, Ceccherini I, Keens TG, et al. An official ATS clinical policy statement: Congenital central hypoventilation syndrome: genetic basis, diagnosis, and management. Am J Respir Crit Care Med. 2010;15(181):626–44.Google Scholar
  19. 19.
    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;33:459–61.PubMedGoogle Scholar
  20. 20.
    Weese-Mayer DE, Berry-Kravis EM, Zhou L, et al. Idiopathic congenital central hypoventilation syndrome: analysis of genes pertinent to early autonomic nervous system embryonic development and identification of mutations in PHOX2b. Am J Med Genet A. 2003;123A:267–78.PubMedGoogle Scholar
  21. 21.
    Weese-Mayer DE, Silvestri JM, Menzies LJ, et al. Congenital central hypoventilation syndrome: diagnosis, management, and long-term outcome in thirty-two children. J Pediatr. 1992;120:381–7.PubMedGoogle Scholar
  22. 22.
    Gozal D. Congenital central hypoventilation syndrome: an update. Pediatr Pulmonol. 1998;26:273–82.PubMedGoogle Scholar
  23. 23.
    Marcus CL, Bautista DB, Amihyia A, et al. Hypercapneic arousal responses in children with congenital central hypoventilation syndrome. Pediatrics. 1991;88:993–8.PubMedGoogle Scholar
  24. 24.
    Vanderlaan M, Holbrook CR, Wang M, et al. Epidemiologic survey of 196 patients with congenital central hypoventilation syndrome. Pediatr Pulmonol. 2004;37:217–29.PubMedGoogle Scholar
  25. 25.
    Trang H, Dehan M, Beaufils F, et al. The French congenital hypoventilation syndrome registry: general data, phenotype and genotype. Chest. 2005;127:72–9.PubMedGoogle Scholar
  26. 26.
    Marcus CL, Jansen MT, Poulsen MK, et al. Medical and psychosocial outcome of children with congenital central hypoventilation syndrome. J Pediatr. 1991;119:888–95.PubMedGoogle Scholar
  27. 27.
    Weese-Mayer DE, Shannon DC, Keens TG, et al. Idiopathic congenital central hypoventilation syndrome: diagnosis and management. Am J Respir Crit Care Med. 1999;160:368–73.Google Scholar
  28. 28.
    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;174:923–7.PubMedGoogle Scholar
  29. 29.
    Swaminathan S, Gilsanz V, Atkinson J, Keens TG. Congenital central hypoventilation syndrome associated with multiple ganglioneuromas. Chest. 1989;96:423–4.PubMedGoogle Scholar
  30. 30.
    Weese-Mayer DE, Berry-Kravis EM, Zhou L, Maher BS, Silvestri JM, Curran ME, Marazita ML. Idiopathic congenital central hypoventilation syndrome: analysis of genes pertinent to early autonomic nervous system embryonic development and identification of mutations in PHOX2B. Am J Med Genet. 2003;123A:267–78.PubMedGoogle Scholar
  31. 31.
    Silvestri JM, Weese-Mayer DE, Nelson MN. Neuropsychologic abnormalities in children with congenital central hypoventilation syndrome. J Pediatr. 1992;120:388–93.PubMedGoogle Scholar
  32. 32.
    Silvestri JM, Hanna BD, Volgman AS, et al. Cardiac rhythm disturbances among children with idiopathic congenital central hypoventilation syndrome. Pediatr Pulmonol. 2000;29:351–8.PubMedGoogle Scholar
  33. 33.
    Goldberg DS, Ludwig IH. Congenital central hypoventilation syndrome: ocular findings 37 in children. J Pediatr Ophthalmol Strabismus. 1996;33:175–80.PubMedGoogle Scholar
  34. 34.
    Gronli JO, Santucci BA, Leurgans SE, et al. Congenital central hypoventilation syndrome: PHOX2B genotype determines risk for sudden death. Pediatr Pulmonol. 2008;43:77–86.PubMedGoogle Scholar
  35. 35.
    Woo MS, Woo MA, Gozal D, et al. Heart rate variability in congenital central hypoventilation syndrome. Pediatr Res. 1992;31:291–6.PubMedGoogle Scholar
  36. 36.
    Haddad GG, Mazza NM, Defendini R, et al. Congenital failure of automatic control of ventilation, gastrointestinal motility and heart rate. Medicine (Baltimore). 1978;57:517–26.Google Scholar
  37. 37.
    Zelko FA, Nelson MN, Leurgans SE, et al. Congenital central hypoventilation syndrome: neurocognitive functioning in school-aged children. Pediatr Pulmonol. 2010;45:92–8.PubMedGoogle Scholar
  38. 38.
    Weese-Mayer DE, Brouillette RT, Naidich TP, et al. Magnetic resonance imaging and computerized tomography in central hypoventilation. Am Rev Respir Dis. 1988;137:393–8.PubMedGoogle Scholar
  39. 39.
    Oren J, Newth CJ, Hunt CE, et al. Ventilatory effects of almitrine bismesylate in congenital central hypoventilation syndrome. Am Rev Respir Dis. 1989;140:368–72.Google Scholar
  40. 40.
    Witmans MB, Chen ML, Davidson Ward SW, Keens TG. Congenital syndromes affecting respiratory control during sleep. In: Lee-Chiong T, editor. Sleep: a comprehensive handbook. Hoboken, NJ: John Wiley and Sons; 2006. p. 517–27.Google Scholar
  41. 41.
    Tibballs J, Henning RD. Noninvasive ventilatory strategies in the management of a newborn infant and three children with congenital central hypoventilation syndrome. Pediatr Pulmonol. 2003;36:544–8.PubMedGoogle Scholar
  42. 42.
    Villa MP, Dotta A, Castello D, et al. Bi-level positive airway pressure (BiPAP) ventilation in an infant with central hypoventilation syndrome. Pediatr Pulmonol. 1997;24:66–9.PubMedGoogle Scholar
  43. 43.
    Hartmann H, Jawad MH, Noyes J, et al. Negative extrathoracic pressure ventilation in infants and young children with central hypoventilation syndrome. Arch Dis Child. 1994;70:418–23.PubMedGoogle Scholar
  44. 44.
    Weese-Mayer DE, Hunt CE, Brouillette RT, et al. Diaphragm pacing in infants and children. J Pediatr. 1992;120(118):1–8.PubMedGoogle Scholar
  45. 45.
    Chen ML, Tablizo MA, Kun S, Keens TG. Diaphragm pacers as a treatment for congenital central hypoventilation syndrome. Expert Rev Med Devices. 2005;2:577–85.PubMedGoogle Scholar
  46. 46.
    Bass JL, Corwin M, Gozal D, et al. The effect of chronic or intermittent hypoxia on cognition in childhood: a review of the evidence. Pediatrics. 2004;114:805–16.PubMedGoogle Scholar
  47. 47.
    Silvestri JM, Weese-Mayer DE, Flanagan EA. Congenital central hypoventilation syndrome: cardiorespiratory responses to moderate exercise simulating daily activity. Pediatr Pulmonol. 1995;20:89–93.PubMedGoogle Scholar
  48. 48.
    Chen ML, Turkel SB, Jacobson JR, Keens T. Alcohol use in congenital central hypoventilation syndrome. Pediatr Pulmonol. 2006;41:283–5.PubMedGoogle Scholar
  49. 49.
    Sritippayawan S, Hamutcu R, Kun SS, et al. Mother-daughter transmission of congenital central hypoventilation syndrome. Am J Respir Crit Care Med. 2002;166:367–9.PubMedGoogle Scholar
  50. 50.
    Tubbs RS, Lyerly MJ, Loukas M, et al. The pediatric Chiari I malformation: a review. Childs Nerv Syst. 2007;23:1239–50.PubMedGoogle Scholar
  51. 51.
    Zolty P, Sanders MF, Pollack IF. Chiari Malformation and sleep disordered breathing: a review of diagnostic and management issues. Sleep. 2000;23(5):637–43.PubMedGoogle Scholar
  52. 52.
    Paul KS, Lye RH, Strang FA, et al. Arnold Chiari-Malformation: review of 71 cases. J Neurosurg. 1983;58(2):183–7.PubMedGoogle Scholar
  53. 53.
    Greenlee JD, Donovan KA, Hasan DM, et al. Chiari 1 malformations in the very young child: the spectrum of presentations and experience in 31 children under age 6 years. Pediatrics. 2002;110:1212–9.PubMedGoogle Scholar
  54. 54.
    Botelho RV, Bittencourt LR, Rotta JM, Tufik S. Polysomnographic respiratory findings in patients with Arnold-Chiari type 1 malformation with basilar invagination with or without syringomyelia: preliminary report of a series of cases. Neurosurg Rev. 2000;23(3):151–5.PubMedGoogle Scholar
  55. 55.
    Murray C, Seton C, Prelog K, Fitzgerald DA. Arnold Chiari type 1 malformation presenting with sleep disordered breathing in well children. Arch Dis Child. 2006;91(4):342–3.PubMedGoogle Scholar
  56. 56.
    Dauvilliers Y, Stal V, Abril B, et al. Chiari malformation and sleep related breathing disorders. J Neurol Neurosurg Psychiatry. 2007;78:1344–8.PubMedGoogle Scholar
  57. 57.
    Hays RM, Jordan RA, McLaughlin JF, et al. Central ventilatory dysfunction in myelodysplasia: an ­independent determinant of survival. Dev Med Child Neurol. 1989;31:366–70.PubMedGoogle Scholar
  58. 58.
    Krieger AJ, Detwiler JS, Trooskin SJ. Respiratory function in infants with Arnold Chiari malformation. Laryngoscope. 1976;86:718–23.PubMedGoogle Scholar
  59. 59.
    Hollinger PC, Hollinger LD, Reichert TJ, Hollinger PH. Respiratory obstruction and apnea in infants with bilateral abductor vocal cord paralysis, meningomyelocoele, hydrocephalus, and Arnold Chiari malformation. J Pediatr. 1978;92:368–73.Google Scholar
  60. 60.
    Oren J, Kelly DH, Todres ID, Shannon DC. Respiratory complications in patients with myelodysplasia and Arnold-Chiari malformation. Am J Dis Child. 1986;140:221–4.PubMedGoogle Scholar
  61. 61.
    Waters KA, Forbes P, Morielli A, et al. Sleep disordered breathing in children with myelomeningocoele. J Pediatr. 1998;132:672–81.PubMedGoogle Scholar
  62. 62.
    Ward SL, Jacobs RA, Gates EP, et al. Abnormal ventilatory patterns during sleep in infants with myelomeningocoele. J Pediatr. 1986;109:631–44.PubMedGoogle Scholar
  63. 63.
    Kirk VG, Morielli A, Gozal D, et al. Treatment of sleep disordered breathing in children with myelomeningocoele. Pediatr Pulmonol. 2000;30:445–52.PubMedGoogle Scholar
  64. 64.
    Ledbetter DH, Riccardi VM, Airhart SD, et al. Deletions of chromosome 15 as a cause of Prader Willi syndrome. N Engl J Med. 1981;304(6):325–9.PubMedGoogle Scholar
  65. 65.
    Butler MG, Palmer CG. Parental origin of chromosome 15 deletion in Prader-Willi syndrome. Lancet. 1983;1:1285–6.PubMedGoogle Scholar
  66. 66.
    Nicholls RD, Knoll JH, Butler MG, et al. Genetic imprinting suggested by maternal heterodisomy in nondeletion Prader-Willi syndrome. Nature. 1989;342:281–5.PubMedGoogle Scholar
  67. 67.
    Buiting K, Gross S, Lich C, et al. Epimutations in Prader Willi and Angelman syndromes: a molecular study of 136 patients with an imprinting defect. Am J Hum Genet. 2003;72:571–7.PubMedGoogle Scholar
  68. 68.
    Butler JV, Whittington JE, Holland AJ, et al. Prevalence of, and risk factors for, physical ill-health in people with Prader Willi syndrome: a population based study. Dev Med Child Neurol. 2002;44(4):248–55.PubMedGoogle Scholar
  69. 69.
    Vogels A, Van Den Ende J, Keymolen K, et al. Minimum prevalence, birth incidence, and cause of death for Prader Willi syndrome in Flanders. Eur J Hum Genet. 2004;12(3):238–40.PubMedGoogle Scholar
  70. 70.
    Nixon GM, Brouillette RT. Sleep and Breathing in Prader-Willi syndrome. Pediatr Pulmonol. 2002;34:209–17.PubMedGoogle Scholar
  71. 71.
    Hertz G, Cataletto M, Feinsilver SH, et al. Sleep and breathing patterns in patients with Prader-Willi syndrome (PWS): effects of age and gender. Sleep. 1993;16:366–71.PubMedGoogle Scholar
  72. 72.
    Hertz G, Cataletto M, Feinsilver SH, et al. Developmental trends of sleep disordered breathing in Prader-Willi syndrome: the role of obesity. Am J Med Genet. 1995;56:188–90.PubMedGoogle Scholar
  73. 73.
    Richards A, Quaghebeur C, Clift S, et al. The upper airway and sleep apnoea in Prader-Willi syndrome. Clin Otolaryngol Allied Sci. 1994;19:193–7.PubMedGoogle Scholar
  74. 74.
    Arens R, Gozal D, Omlin KJ, et al. Hypoxic and hypercapnic ventilatory responses in Prader-Willi syndrome. J Appl Physiol. 1994;77:2224–30.PubMedGoogle Scholar
  75. 75.
    Gozal D, Arens R, Omlin KJ, et al. Absent peripheral chemosensitivity in the Prader-Willi syndrome. J Appl Physiol. 1994;77:2231–6.PubMedGoogle Scholar
  76. 76.
    Arens R, Gozal D, Burrell BC, et al. Arousal and cardiorespiratory responses to hypoxia in Prader-Willi syndrome. Am J Respir Crit Care Med. 1996;153:283–7.PubMedGoogle Scholar
  77. 77.
    Livingston FR, Arens R, Bailey SL, et al. Hypercapnic arousal responses in Prader-Willi syndrome. Chest. 1995;108:1627–31.PubMedGoogle Scholar
  78. 78.
    Goldstone AP, Holland AJ, Hauffa BP, et al. Recommendations for diagnosis and management of Prader-Willi syndrome. J Clin Endocrinol Metab. 2008;93:4183–97.PubMedGoogle Scholar
  79. 79.
    Lindgren AC, Hellstrom LG, Ritzen EM, et al. Growth hormone treatment increases CO2 response, ventilation and central respiratory drive in children with Prader Willi syndrome. Eur J Pediatr. 1999;158:936–40.PubMedGoogle Scholar
  80. 80.
    Fillion M, Deal C, Van Vliet G. Retrospective study of the potential benefits and adverse events during growth hormone treatment in children with Prader-Willi syndrome. J Pediatr. 2009;154:230–3.PubMedGoogle Scholar
  81. 81.
    Miller JL, Shuster J, Theriaque D, et al. Sleep disordered breathing in infants with Prader–Willi syndrome during the first 6 weeks of growth hormone therapy: a pilot study. J Clin Sleep Med. 2009;5:448–53.PubMedGoogle Scholar
  82. 82.
    Van Vliet G, Deal CL, Crock PA, et al. Sudden death in growth hormone-treated children with Prader-Willi syndrome. J Pediatr. 2004;144:129–31.PubMedGoogle Scholar
  83. 83.
    Eiholzer U. Deaths in children with Prader Willi syndrome. Horm Res. 2005;63:33–9.PubMedGoogle Scholar
  84. 84.
    Bakker B, Maneatis T, Lippe B. Sudden death in Prader-Willi syndrome: brief review of five additional cases. Horm Res. 2007;67:203–4.PubMedGoogle Scholar
  85. 85.
    Stafler P, Wallis C. Prader-Willi syndrome: who can have growth hormone? Arch Dis Child. 2008;93:341–5.PubMedGoogle Scholar
  86. 86.
    Scheimann AO, Butler MG, Gourash L, et al. Critical analysis of bariatric procedures in Prader-Willi syndrome. J Pediatr Gastroenterol Nutr. 2008;46:80–3.PubMedGoogle Scholar
  87. 87.
    Rosen CL. Clinical features of obstructive sleep apnea hypoventilation syndrome in otherwise healthy children. Pediatr Pulmonol. 1999;27:403–9.PubMedGoogle Scholar
  88. 88.
    Mokhlesi B, Tulaimat A. Recent advances in obesity hypoventilation syndrome. Chest. 2007;132:1322–36.PubMedGoogle Scholar
  89. 89.
    Bourne RA, Maltby CC, Donaldson JD. Obese hypoventilation syndrome of early childhood requiring ventilatory support. Int J Pediatr Otorhinolaryngol. 1988;16:61–8.PubMedGoogle Scholar
  90. 90.
    Deane S, Thomson A. Obesity and the pulmonologist. Arch Dis Child. 2006;91:188–91.PubMedGoogle Scholar
  91. 91.
    Parameswaran K, Todd DC, Soth M. Altered ­respiratory physiology in obesity. Can Respir J. 2006;13:203–10.PubMedGoogle Scholar
  92. 92.
    Kalra MM, Inge T, Garcia V, et al. Obstructive sleep apnea in extremely overweight adolescents undergoing bariatric surgery. Obes Res. 2005;13:1175–9.PubMedGoogle Scholar
  93. 93.
    Inge TH, Krebs NF, Garcia VF, et al. Bariatric surgery for severely overweight adolescents: concerns and recommendations. Pediatrics. 2004;114:217–23.PubMedGoogle Scholar
  94. 94.
    Carroll MS, Patwar PP, Weese-Mayer DE. Carbon dioxide chemoreception and hypoventilation syndromes with autonomic dysregulation. J Appl Physiol. 2010;108:979–88.PubMedGoogle Scholar
  95. 95.
    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(1):e179–88.PubMedGoogle Scholar
  96. 96.
    Bougneres P, Panatalone L, Linglart A, et al. Endocrine manifestations of the rapid-onset obesity with hypoventilation, hypothalamic, autonomic dysregulation and neural tumor syndrome in early childhood. J Clin Endocrinol Metab. 2008;93:3971–80.PubMedGoogle Scholar
  97. 97.
    Shiang R, Thompsom LM, Zhu YZ, et al. Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia. Cell. 1994;78:335–42.PubMedGoogle Scholar
  98. 98.
    Rousseau F, Bonaventure J, Legeai-Mallet L, et al. Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia. Nature. 1994;371:252–4.PubMedGoogle Scholar
  99. 99.
    Bellus GA, Hefferon TW, Ortiz de Luna RI, et al. Achondroplasia is defined by recurrent G380R mutations of FGFR3. Am J Hum Genet. 1995;56:368–73.PubMedGoogle Scholar
  100. 100.
    Horton WA, Hall JG, Hecht JT. Achondroplasia. Lancet. 2007;370(9582):162–72.PubMedGoogle Scholar
  101. 101.
    Francomano CA. Achondroplasia. In: Pagon RA, Bird TC, Dolan CR, Stephens K, editors. GeneReviews [Internet]. Seattle: University of Washington; 2006. 1993–1998 Oct 12.Google Scholar
  102. 102.
    Bruhl K, Stoeter P, Wietek B, et al. Cerebral spinal fluid flow, venous drainage and spinal cord compression in achondroplastic children: impact of magnetic resonance findings for decompressive surgery at the cranio-cervical junction. Eur J Pediatr. 2001;160:10–20.PubMedGoogle Scholar
  103. 103.
    Yamada H, Nakamura S, Tajima M, Kageyama N. Neurological manifestations of pediatric achondroplasia. J Neurosurg. 1981;54:49–57.PubMedGoogle Scholar
  104. 104.
    Steinbok P, Hall J, Flodmark O. Hydrocephalus in achondroplasia: the possible role of intracranial venous hypertension. J Neurosurg. 1989;71:42–8.PubMedGoogle Scholar
  105. 105.
    Tasker RC, Dundas I, Laverty A, et al. Distinct patterns of respiratory difficulty in young children with achondroplasia: a clinical, sleep, and lung function study. Arch Dis Child. 1998;79:99–108.PubMedGoogle Scholar
  106. 106.
    Waters KA, Everett F, Sillence D, et al. Breathing abnormalities in sleep in achondroplasia. Arch Dis Child. 1993;69:191–6.PubMedGoogle Scholar
  107. 107.
    Mogayzel Jr PJ, Carroll JL, Loughlin GM, et al. Sleep disordered breathing in children with achondroplasia. J Pediatr. 1998;132:667–71.PubMedGoogle Scholar
  108. 108.
    Pauli RM, Scott CI, Wassman Jr ER, Gilbert EF, et al. Apnea and sudden unexpected death in infants with achondroplasia. J Pediatr. 1984;104:342–8.PubMedGoogle Scholar
  109. 109.
    Stokes DC, Phillips JA, Leonard CO, et al. Respiratory complications of achondroplasia. J Pediatr. 1983;102:534–41.PubMedGoogle Scholar
  110. 110.
    Zucconi M, Weber G, Castronovo V, et al. Sleep and upper airway obstruction in children with achondroplasia. J Pediatr. 1996;129:743–9.PubMedGoogle Scholar
  111. 111.
    Ryken TC, Menezes AH. Cervicomedullary compression in achondroplasia. J Neurosurg. 1994;81:43–8.PubMedGoogle Scholar
  112. 112.
    Waters KA, Everett F, Sillence DO, et al. Treatment of obstructive sleep apnea in achondroplasia: evaluation of sleep, breathing, and somatosensory-evoked potentials. Am J Med Genet. 1995;59:460–6.PubMedGoogle Scholar
  113. 113.
    Ottonello G, Villa G, Moscatelli A, et al. Noninvasive ventilation in a child affected by achondroplasia respiratory difficulty syndrome. Paediatr Anaesth. 2007;17:75–9.PubMedGoogle Scholar
  114. 114.
    Elwood ET, Burstein FD, Graham L, et al. Midface distraction to alleviate upper airway obstruction in achondroplastic dwarfs. Cleft Palate Craniofac J. 2003;40:100–3.PubMedGoogle Scholar
  115. 115.
    Trotter TL, Hall JG. Health supervision for children with achondroplasia. Pediatrics. 2005;116:771–83.PubMedGoogle Scholar
  116. 116.
    Leigh D. Subacute necrotizing encephalomyelopathy in an infant. J Neurol Neurosurg Psychiatry. 1951;14:216–21.PubMedGoogle Scholar
  117. 117.
    Rahman S, Blok RB, Dahl HH, et al. Leigh syndrome: clinical features and biochemical and DNA abnormalities. Ann Neurol. 1996;39:343–51.PubMedGoogle Scholar
  118. 118.
    Horvath R, Abicht A, Holinski-Feder E, et al. Leigh syndrome caused by mutations in the flavoprotein (Fp) subunit of succinate dehydrogenase (SDHA). J Neurol Neurosurg Psychiatry. 2006;77:74–6.PubMedGoogle Scholar
  119. 119.
    Arii J, Tanabe Y. Leigh Syndrome: serial MR imaging and clinical follow-up. AJNR Am J Neuroradiol. 2000;21:1502–9.PubMedGoogle Scholar
  120. 120.
    Finsterer J. Leigh and Leigh-like syndrome in children and adults. Pediatr Neurol. 2008;39:223–35.PubMedGoogle Scholar
  121. 121.
    Yang YL, Zhang Y, Qian N, et al. Clinical and laboratory survey of 65 Chinese patients with Leigh syndrome. Chin Med J. 2006;119:373–7.PubMedGoogle Scholar
  122. 122.
    Joubert M, Eisenring JJ, Robb JP, Andermann F. Familial agenesis of the cerebellar vermis: a syndrome of episodic hyperpnea, abnormal eye movements, ataxia, and retardation. Neurology. 1969;19:813–5.PubMedGoogle Scholar
  123. 123.
    Maria BL, Boltshaueser E, Palmer SC, Tran TX. Clinical features and revised diagnostic criteria in Joubert syndrome. J Child Neurol. 1999;14:583–90.PubMedGoogle Scholar
  124. 124.
    Parisi M, Glass I. Joubert syndrome. In: Pagon RA, Bird TC, Dolan CR, Stephens K, editors. GeneReviews [Internet]. Seattle: University of Washington; 2007. 1993–2003 Jul 9.Google Scholar
  125. 125.
    Maria BL, Quisling RG, Rosainz LC, et al. Molar tooth sign in Joubert syndrome: clinical, radiologic, and pathologic significance. J Child Neurol. 1999;14:368–76.PubMedGoogle Scholar
  126. 126.
    Brancati F, Dellapiccola B, Valente EM. Joubert syndrome and related disorders. Orphanet J Rare Dis. 2010;5:20.PubMedGoogle Scholar
  127. 127.
    Wolfe L, Lakadamyali H, Mutlu GM, et al. Joubert syndrome associated with severe central sleep apnea. J Clin Sleep Med. 2010;6(4):384–8.PubMedGoogle Scholar
  128. 128.
    Gozal D, Keens TG. Passive nighttime hypocapnic hyperventilation improves daytime eucapnia in mechanically ventilated children. Am J Respir Crit Care Med. 1998;157(3):A779.Google Scholar
  129. 129.
    Davidson Ward SL, Keens TG. Home mechanical ventilators and equipment. In: McConnell MS, editor. Guidelines for pediatric home health care. Evanston: American Academy of Pediatrics; 2002. p. 177–86.Google Scholar
  130. 130.
    Gilgoff IS, Peng RC, Keens TG. Hypoventilation and apnea in children during mechanical assisted ventilation. Chest. 1992;101:1500–6.PubMedGoogle Scholar
  131. 131.
    Fauroux B, Boffa C, Desguerre I, et al. Long-term noninvasive mechanical ventilation for children at home: a national survey. Pediatr Pulmonol. 2003;35:119–25.PubMedGoogle Scholar
  132. 132.
    Marcus CL. Ventilator management of abnormal breathing during sleep: continuous positive airway pressure and nocturnal noninvasive intermittent positive pressure ventilation. In: Loughlin GM, Marcus CL, Carroll JL, editors. Sleep and breathing in children: a developmental approach, Lung biology in health and disease series. New York: Marcel Dekker, Inc; 2000. p. 797–811.Google Scholar
  133. 133.
    Kerbl R, Litscher H, Grubbbauer HM, et al. Congenital central hypoventilation syndrome (Ondine’s curse syndrome) in two siblings: delayed diagnosis and successful noninvasive treatment. Eur J Pediatr. 1996;155:977–80.PubMedGoogle Scholar
  134. 134.
    Hyland RH, Hutcheon MA, Perl A, et al. Upper airway occlusion induced by diaphragm pacing for primary alveolar hypoventilation: implications for the pathogenesis of obstructive sleep apnea. Am Rev Respir Dis. 1981;124:180–5.PubMedGoogle Scholar
  135. 135.
    Brouillette RT, Marzocchi M. Diaphragm pacing: clinical and experimental results. Biol Neonate. 1994;65:265–71.PubMedGoogle Scholar

Copyright information

© Springer Science+Business Media New York 2012

Authors and Affiliations

  • Iris A. Perez
    • 1
    Email author
  • Thomas G. Keens
    • 1
  • Sally L. Davidson Ward
    • 1
  1. 1.Department of Pediatric PulmonologyChildren’s Hospital Los Angeles, Keck School of Medicine of the University of Southern CaliforniaLos AngelesUSA

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