Section 11: Central hypoventilation, congenital and acquired

References

• Weese-Mayer DE, Berry-Kravis EM, Ceccherini I, et al. An official ATS clinical policy statement: Congenital central hypoventilation syndrome: genetic basis, diagnosis, and management. Am J Respir Crit Care Med. 2010;181(6):626–644.
   Google Scholar
• Idiopathic congenital central hypoventilation syndrome: diagnosis and management. Am J Respir Crit Care Med. 1999;160(1):368–373.
   Web of Science ®Google Scholar
• Weese-Mayer DE, Rand CM, Berry-Kravis EM, et al. Congenital central hypoventilation syndrome from past to future: model for translational and transitional autonomic medicine. Pediatr Pulmonol. 2009;44(6):521–535.
   Google Scholar
• Healy F, Marcus CL. Congenital central hypoventilation syndrome in children. Paediatric Respiratory Reviews. 2011;12(4):253–263.
   Google Scholar
• Weese-Mayer DE, Marazita ML, Rand CM, Berry-Kravis EM. Congenital Central Hypoventilation Syndrome. In: Adam MP, Ardinger HH, Pagon RA, et al., eds. GeneReviews. Seattle, WA: University of Washington; 2004.
   Google Scholar
• 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(3):381–387.
   Google Scholar
• Mellins RB, Balfour HH, Jr., 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 (Baltimore). 1970;49(6):487–504.
   PubMedGoogle Scholar
• Oren J, Newth CJ, Hunt CE, et al. Ventilatory effects of almitrine bismesylate in congenital central hypoventilation syndrome. Am Rev Respir Dis. 1986;134(5):917–919.
   Google Scholar
• Ramanantsoa N, Gallego J. Congenital central hypoventilation syndrome. Respiratory Physiology & Neurobiology. 2013;189(2):272–279.
   Google Scholar
• Marcus CL, Jansen MT, Poulsen MK, et al. Medical and psychosocial outcome of children with congenital central hypoventilation syndrome. J Pediatr. 1991;119(6):888–895.
   PubMed Web of Science ®Google Scholar
• Oren J, Kelly DH, Shannon DC. Long-term follow-up of children with congenital central hypoventilation syndrome. Pediatrics 1987;80(3):375–380.
   PubMedGoogle Scholar
• Trobliger R, Zaroff CM, Grayson RH, Higgins JJ. A nonverbal learning disability in a case of central hypoventilation syndrome without a PHOX2B gene mutation. Child Neuropsychol. 2010;16(2):202–208.
   PubMed Web of Science ®Google Scholar
• Zelko FA, Nelson MN, Leurgans SE, et al. Congenital central hypoventilation syndrome: neurocognitive functioning in school age children. Pediatr Pulmonol. 2010;45(1):92–98.
   Google Scholar
• Montirosso R, Morandi F, D'Aloisio C, et al. International Classification of Functioning, Disability and Health in children with congenital central hypoventilation syndrome. Disability and Rehabilitation. 2009;31(sup1):S144–S152.
   PubMed Web of Science ®Google Scholar
• Vanderlaan M, Holbrook CR, Wang M, Tuell A, Gozal D. Epidemiologic survey of 196 patients with congenital central hypoventilation syndrome. Pediatr Pulmonol. 2004;37(3):217–229.
   PubMed Web of Science ®Google Scholar
• Fine-Goulden MR, Manna S, Durward A. Cor pulmonale due to congenital central hypoventilation syndrome presenting in adolescence. Pediatric Critical Care Medicine: A Journal of the Society of Critical Care Medicine and the World Federation of Pediatric Intensive and Critical Care Societies. Jul 2009;10(4):e41–e42.
   Google Scholar
• Lee P, Su YN, Yu CJ, Yang PC, Wu HD. PHOX2B mutation-confirmed congenital central hypoventilation syndrome in a Chinese family: presentation from newborn to adulthood. Chest 2009;135(2):537–544.
   Google Scholar
• Gronli JO, Santucci BA, Leurgans SE, Berry-Kravis EM, Weese-Mayer DE. Congenital central hypoventilation syndrome: PHOX2B genotype determines risk for sudden death. Pediatr Pulmonol. 2008;43(1):77–86.
   Google Scholar
• Windisch W, Hennings E, Storre JH, Matthys H, Sorichter S. Long-term survival of a patient with congenital central hypoventilation syndrome despite the lack of continuous ventilatory support. Respiration 2004;71(2):195–198.
   Google Scholar
• Little R. A 2-year old with no ventilator requirement but who cannot be extubated. Semin Pediatr Neurol. 2008;15(4):157–159; discussion 159.
   Google Scholar
• Antic NA, Malow BA, Lange N, et al. PHOX2B mutation-confirmed congenital central hypoventilation syndrome: presentation. Am J Respir Crit Care Med. 2006;174(8):923–927.
   Google Scholar
• Amin R, Riekstins A, Al-Saleh S, et al. Presentation and treatment of monozygotic twins with congenital central hypoventilation syndrome. Canadian Respiratory Journal: Journal of the Canadian Thoracic Society. 2011;18(2):87–89.
   Google Scholar
• Ou-Yang MC, Yang SN, Hsu YM, et al. Concomitant existence of total bowel aganglionosis and congenital central hypoventilation syndrome in a neonate with PHOX2B gene mutation. Journal of Pediatric Surgery. 2007;42(2):e9–11.
   Google Scholar
• Lingappa L, Panigrahi NK, Chirla DK, Burton-Jones S, Williams MM. Congenital central hypoventilation syndrome with PHOX2B gene mutation. Indian J Pediatr. 2012;79(11):1526–1528.
   Google Scholar
• Amimoto Y, Okada K, Nakano H, et al. A case of congenital central hypoventilation syndrome with a novel mutation of the PHOX2B gene presenting as central sleep apnea. Journal of Clinical Sleep Medicine: JCSM: Official Publication of the American Academy of Sleep Medicine. 2014;10(3):327–329.
   Google Scholar
• Ramesh P, Boit P, Samuels M. Mask ventilation in the early management of congenital central hypoventilation syndrome. Arch Dis Child Fetal Neonatal Ed. Nov 2008;93(6):F400–F403.
   Google Scholar
• Kam K, Bjornson C, Mitchell I. Congenital central hypoventilation syndrome; safety of early transition to non-invasive ventilation. Pediatr Pulmonol. 2014;49(4):410–413.
   Google Scholar
• Coleman M, Boros SJ, Huseby TL, Brennom WS. Congenital central hypoventilation syndrome. A report of successful experience with bilateral diaphragmatic pacing. Arch Dis Child. 1980;55(11):901–903.
   Google Scholar
• Khong P, Lazzaro A, Mobbs R. Phrenic nerve stimulation: the Australian experience. J Clin Neurosci. 2010;17(2):205–208.
   PubMed Web of Science ®Google Scholar
• Chen ML, Tablizo MA, Kun S, Keens TG. Diaphragm pacers as a treatment for congenital central hypoventilation syndrome. Expert Review of Medical Devices. 2005;2(5):577–585.
   PubMed Web of Science ®Google Scholar
• Shaul DB, Danielson PD, McComb JG, Keens TG. Thoracoscopic placement of phrenic nerve electrodes for diaphragmatic pacing in children. J Pediatr Surg. 2002;37(7):974–978.
   PubMed Web of Science ®Google Scholar
• Weese-Mayer DE, Hunt CE, Brouillette RT, Silvestri JM. Diaphragm pacing in infants and children. J Pediatr. 1992;120(1):1–8.
   Google Scholar
• Reverdin AK, Mosquera R, Colasurdo GN, Jon CK, Clements RM. Airway obstruction in congenital central hypoventilation syndrome. BMJ Case Rep. 2014;2014:bcr2013200911. April 18 online doi:10.1136/bcr-2013-200911.
   Google Scholar
• Flageole H, Adolph VR, Davis GM, et al. Diaphragmatic pacing in children with congenital central alveolar hypoventilation syndrome. Surgery. 1995;118(1):25–28.
   Google Scholar
• 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(5):1747–1751.
   Google Scholar
• Repetto GM, Corrales RJ, Abara SG, et al. Later-onset congenital central hypoventilation syndrome due to a heterozygous 24-polyalanine repeat expansion mutation in the PHOX2B gene. Acta Paediatr. 2009;98(1):192–195.
   Google Scholar
• Carroll JL, Agarwal A. Development of ventilatory control in infants. Paediatr Respir Rev. 2010;11(4):199–207.
   Google Scholar
• Weese-Mayer DE, Brouillette RT, Naidich TP, McLone DG, Hunt CE. Magnetic resonance imaging and computerized tomography in central hypoventilation. Am Rev Respir Dis. 1988;137(2):393–398.
   Google Scholar
• Rabec C, Laurent G, Baudouin N, et al. Central sleep apnoea in Arnold-Chiari malformation: evidence of pathophysiological heterogeneity. Eur Respir J. 1998;12(6):1482–1485.
   Google Scholar
• Montserrat JM, Picado C, Agusti-Vidal A. Arnold-Chiari malformation and paralysis of the diaphragm. Respiration. 1988;53(2):128–131.
   Google Scholar
• Kirk VG, Morielli A, Gozal D, et al. Treatment of sleep-disordered breathing in children with myelomeningocele. Pediatr Pulmonol. 2000;30(6):445–452.
   Google Scholar
• Vergani L, Angelini C. Infantile lipid storage myopathy with nocturnal hypoventilation shows abnormal low-affinity muscle carnitine uptake in vitro. Neuromuscul Disord. 1999;9(5):320–322.
   Google Scholar
• Sarnat HB. Watershed infarcts in the fetal and neonatal brainstem. An aetiology of central hypoventilation, dysphagia, Moibius syndrome and micrognathia. Eur J Paediatr Neurol. 2004;8(2):71–87.
   Google Scholar
• Saito Y, Ito M, Ozawa Y, et al. Changes of neurotransmitters in the brainstem of patients with respiratory-pattern disorders during childhood. Neuropediatrics. 1999;30(03):133–140.
   Google Scholar
• Mercado A, Pedraza L, Mayol PM, Rodriguez Santana R, Tejeda C. Joubert syndrome. Respiratory failure requiring home mechanical ventilation. Bol Asoc Med P R. 1991;83(10):451–455.
   Google Scholar
• Maria BL, Boltshauser E, Palmer SC, Tran TX. Clinical features and revised diagnostic criteria in Joubert syndrome. J Child Neurol. 1999;14(9):583–590.
   Google Scholar
• Manni R, Politini L, Nobili L, et al. Hypersomnia in the Prader Willi syndrome: clinical-electrophysiological features and underlying factors. Clin Neurophysiol. 2001;112(5):800–805.
   Google Scholar
• MacDonald JT, Camp D. Prolonged but reversible respiratory failure in a newborn with Prader-Willi syndrome. J Child Neurol. 2001;16(2):153–154.
   Google Scholar
• Johnston K, Newth CJ, Sheu KF, et al. Central hypoventilation syndrome in pyruvate dehydrogenase complex deficiency. Pediatrics 1984;74(6):1034–1040.
   Google Scholar
• Holve S, Friedman B, Hoyme HE, et al. Athabascan brainstem dysgenesis syndrome. Am J Med Genet A. 2003;120A(2):169–173.
   PubMedGoogle Scholar
• Harding CO, Green CG, Perloff WH, Pauli RM. Respiratory complications in children with spondyloepiphyseal dysplasia congenita. Pediatr Pulmonol. 1990;9(1):49–54.
   Google Scholar
• Fujita I, Koyanagi T, Kukita J, et al. Moebius syndrome with central hypoventilation and brainstem calcification: a case report. Eur J Pediatr. 1991;150(8):582–583.
   Google Scholar
• Arii J, Tanabe Y. Leigh syndrome: serial MR imaging and clinical follow-up. AJNR Am J Neuroradiol. 2000;21(8):1502–1509.
   Google Scholar