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Central hypoventilation syndrome, late-onset

MedGen UID:
395165
•Concept ID:
C1859050
•
Finding
Synonym: CENTRAL HYPOVENTILATION SYNDROME, LATE-ONSET
 
OMIM®: 603851

Professional guidelines

PubMed

PHOX2B genotype allows for prediction of tumor risk in congenital central hypoventilation syndrome.
Trochet D, O'Brien LM, Gozal D, Trang H, Nordenskjöld A, Laudier B, Svensson PJ, Uhrig S, Cole T, Niemann S, Munnich A, Gaultier C, Lyonnet S, Amiel J
Am J Hum Genet 2005 Mar;76(3):421-6. Epub 2005 Jan 18 doi: 10.1086/428366. PMID: 15657873Free PMC Article

Recent clinical studies

Etiology

Adult With PHOX2B Mutation and Late-Onset Congenital Central Hypoventilation Syndrome.
Kasi AS, Kun SS, Keens TG, Perez IA
J Clin Sleep Med 2018 Dec 15;14(12):2079-2081. doi: 10.5664/jcsm.7542. PMID: 30518452Free PMC Article
Anesthetic Considerations for Patients With Congenital Central Hypoventilation Syndrome: A Systematic Review of the Literature.
Basu SM, Chung FF, AbdelHakim SF, Wong J
Anesth Analg 2017 Jan;124(1):169-178. doi: 10.1213/ANE.0000000000001470. PMID: 27918326
Proceedings of the fourth international conference on central hypoventilation.
Trang H, Brunet JF, Rohrer H, Gallego J, Amiel J, Bachetti T, Fischbeck KH, Similowski T, Straus C, Ceccherini I, Weese-Mayer DE, Frerick M, Bieganowska K, Middleton L, Morandi F, Ottonello G; European Central Hypoventilation Syndrome Consortium
Orphanet J Rare Dis 2014 Dec 5;9:194. doi: 10.1186/s13023-014-0194-5. PMID: 25928806Free PMC Article
Late-onset, insidious course and invasive treatment of congenital central hypoventilation syndrome in a case with the Phox2B mutation: case report.
Bittencourt LR, Pedrazzoli M, Yagihara F, Luz GP, Garbuio S, Moreira GA, Perfeito JA, Tufik S
Sleep Breath 2012 Dec;16(4):951-5. Epub 2011 Nov 19 doi: 10.1007/s11325-011-0614-x. PMID: 22102181
Late-onset central hypoventilation presenting as extubation failure.
Cohen-Cymberknoh M, Shoseyov D, Goldberg S, Gross E, Amiel J, Kerem E
Isr Med Assoc J 2010 Apr;12(4):249-50. PMID: 20803889

Diagnosis

Obesity Hypoventilation: Traditional Versus Nontraditional Populations.
Kaw R, Kaminska M
Sleep Med Clin 2020 Dec;15(4):449-459. Epub 2020 Sep 26 doi: 10.1016/j.jsmc.2020.08.001. PMID: 33131656
Congenital central hypoventilation syndrome: An overview of etiopathogenesis, associated pathologies, clinical presentation, and management.
Zaidi S, Gandhi J, Vatsia S, Smith NL, Khan SA
Auton Neurosci 2018 Mar;210:1-9. Epub 2017 Nov 13 doi: 10.1016/j.autneu.2017.11.003. PMID: 29249648
Late-onset, insidious course and invasive treatment of congenital central hypoventilation syndrome in a case with the Phox2B mutation: case report.
Bittencourt LR, Pedrazzoli M, Yagihara F, Luz GP, Garbuio S, Moreira GA, Perfeito JA, Tufik S
Sleep Breath 2012 Dec;16(4):951-5. Epub 2011 Nov 19 doi: 10.1007/s11325-011-0614-x. PMID: 22102181
Congenital central hypoventilation syndrome in children.
Healy F, Marcus CL
Paediatr Respir Rev 2011 Dec;12(4):253-63. Epub 2011 Apr 16 doi: 10.1016/j.prrv.2010.10.001. PMID: 22018041
Late-onset central hypoventilation presenting as extubation failure.
Cohen-Cymberknoh M, Shoseyov D, Goldberg S, Gross E, Amiel J, Kerem E
Isr Med Assoc J 2010 Apr;12(4):249-50. PMID: 20803889

Therapy

Anesthetic Considerations for Patients With Congenital Central Hypoventilation Syndrome: A Systematic Review of the Literature.
Basu SM, Chung FF, AbdelHakim SF, Wong J
Anesth Analg 2017 Jan;124(1):169-178. doi: 10.1213/ANE.0000000000001470. PMID: 27918326
Late onset congenital central hypoventilation syndrome after exposure to general anesthesia.
Mahfouz AK, Rashid M, Khan MS, Reddy P
Can J Anaesth 2011 Dec;58(12):1105-9. Epub 2011 Oct 12 doi: 10.1007/s12630-011-9590-7. PMID: 21989548
Late-onset central hypoventilation presenting as extubation failure.
Cohen-Cymberknoh M, Shoseyov D, Goldberg S, Gross E, Amiel J, Kerem E
Isr Med Assoc J 2010 Apr;12(4):249-50. PMID: 20803889
Central hypoventilation with PHOX2B expansion mutation presenting in adulthood.
Barratt S, Kendrick AH, Buchanan F, Whittle AT
Thorax 2007 Oct;62(10):919-20. doi: 10.1136/thx.2006.068908. PMID: 17909190Free PMC Article
Anesthetic implications of undiagnosed late onset central hypoventilation syndrome in a child: from elective tonsillectomy to tracheostomy.
Mahmoud M, Bryan Y, Gunter J, Kreeger RN, Sadhasivam S
Paediatr Anaesth 2007 Oct;17(10):1001-5. doi: 10.1111/j.1460-9592.2007.02284.x. PMID: 17767640

Prognosis

Anesthetic Considerations for Patients With Congenital Central Hypoventilation Syndrome: A Systematic Review of the Literature.
Basu SM, Chung FF, AbdelHakim SF, Wong J
Anesth Analg 2017 Jan;124(1):169-178. doi: 10.1213/ANE.0000000000001470. PMID: 27918326
Late-onset congenital central hypoventilation syndrome and a rare PHOX2B gene mutation.
Magalhães J, Madureira N, Medeiros R, Fernandes PC, Oufadem M, Amiel J, Estêvão MH, Reis MG
Sleep Breath 2015 Mar;19(1):55-60. Epub 2014 May 4 doi: 10.1007/s11325-014-0996-7. PMID: 24792884
Late-onset, insidious course and invasive treatment of congenital central hypoventilation syndrome in a case with the Phox2B mutation: case report.
Bittencourt LR, Pedrazzoli M, Yagihara F, Luz GP, Garbuio S, Moreira GA, Perfeito JA, Tufik S
Sleep Breath 2012 Dec;16(4):951-5. Epub 2011 Nov 19 doi: 10.1007/s11325-011-0614-x. PMID: 22102181
Congenital central hypoventilation syndrome in children.
Healy F, Marcus CL
Paediatr Respir Rev 2011 Dec;12(4):253-63. Epub 2011 Apr 16 doi: 10.1016/j.prrv.2010.10.001. PMID: 22018041
Late-onset central hypoventilation presenting as extubation failure.
Cohen-Cymberknoh M, Shoseyov D, Goldberg S, Gross E, Amiel J, Kerem E
Isr Med Assoc J 2010 Apr;12(4):249-50. PMID: 20803889

Clinical prediction guides

Adult cases of late-onset congenital central hypoventilation syndrome and paired-like homeobox 2B-mutation carriers: an additional case report and pooled analysis.
Hino A, Terada J, Kasai H, Shojima H, Ohgino K, Sasaki A, Hayasaka K, Tatsumi K
J Clin Sleep Med 2020 Nov 15;16(11):1891-1900. doi: 10.5664/jcsm.8732. PMID: 32741443Free PMC Article
DCTN1 F52L mutation case of Perry syndrome with progressive supranuclear palsy-like tauopathy.
Honda H, Sasagasako N, Shen C, Shijo M, Hamasaki H, Suzuki SO, Tsuboi Y, Fujii N, Iwaki T
Parkinsonism Relat Disord 2018 Jun;51:105-110. Epub 2018 Feb 23 doi: 10.1016/j.parkreldis.2018.02.038. PMID: 29499916
Anesthetic Considerations for Patients With Congenital Central Hypoventilation Syndrome: A Systematic Review of the Literature.
Basu SM, Chung FF, AbdelHakim SF, Wong J
Anesth Analg 2017 Jan;124(1):169-178. doi: 10.1213/ANE.0000000000001470. PMID: 27918326
Late-onset congenital central hypoventilation syndrome and a rare PHOX2B gene mutation.
Magalhães J, Madureira N, Medeiros R, Fernandes PC, Oufadem M, Amiel J, Estêvão MH, Reis MG
Sleep Breath 2015 Mar;19(1):55-60. Epub 2014 May 4 doi: 10.1007/s11325-014-0996-7. PMID: 24792884
PHOX2B genotype allows for prediction of tumor risk in congenital central hypoventilation syndrome.
Trochet D, O'Brien LM, Gozal D, Trang H, Nordenskjöld A, Laudier B, Svensson PJ, Uhrig S, Cole T, Niemann S, Munnich A, Gaultier C, Lyonnet S, Amiel J
Am J Hum Genet 2005 Mar;76(3):421-6. Epub 2005 Jan 18 doi: 10.1086/428366. PMID: 15657873Free PMC Article

Recent systematic reviews

Anesthetic Considerations for Patients With Congenital Central Hypoventilation Syndrome: A Systematic Review of the Literature.
Basu SM, Chung FF, AbdelHakim SF, Wong J
Anesth Analg 2017 Jan;124(1):169-178. doi: 10.1213/ANE.0000000000001470. PMID: 27918326

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