Adolescent Congenital Central Hypoventilation Syndrome: An Easily Overlooked Diagnosis.
CCHS
diagnosis
late-onset
Journal
International journal of environmental research and public health
ISSN: 1660-4601
Titre abrégé: Int J Environ Res Public Health
Pays: Switzerland
ID NLM: 101238455
Informations de publication
Date de publication:
20 12 2021
20 12 2021
Historique:
received:
22
10
2021
revised:
12
12
2021
accepted:
14
12
2021
entrez:
24
12
2021
pubmed:
25
12
2021
medline:
31
12
2021
Statut:
epublish
Résumé
Congenital central hypoventilation syndrome (CCHS), also known as Ondine's curse, is a rare, potentially fatal genetic disease, manifesting as a lack of respiratory drive. Most diagnoses are made in pediatric patients, however late-onset cases have been rarely reported. Due to the milder symptoms at presentation that might easily go overlooked, these late-onset cases can result in serious health consequences later in life. Here, we present a case report of late-onset CCHS in an adolescent female patient. In this review we summarize the current knowledge about symptoms, as well as clinical management of CCHS, and describe in detail the molecular mechanism responsible for this disorder.
Identifiants
pubmed: 34949014
pii: ijerph182413402
doi: 10.3390/ijerph182413402
pmc: PMC8703802
pii:
doi:
Types de publication
Case Reports
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Références
Acta Paediatr. 2009 Jan;98(1):192-5
pubmed: 18798833
Pediatr Res. 2012 Mar;71(3):280-5
pubmed: 22278185
Eur J Pediatr. 2021 Feb;180(2):469-473
pubmed: 33113016
Acta Neurol Belg. 2021 Feb;121(1):23-35
pubmed: 32335870
Hum Mol Genet. 2003 Dec 1;12(23):3173-80
pubmed: 14532329
Pacing Clin Electrophysiol. 2005 Nov;28(11):1226-30
pubmed: 16359292
Curr Pediatr Rev. 2019;15(3):139-153
pubmed: 31223092
J Clin Invest. 2012 Sep;122(9):3056-8
pubmed: 22922261
PLoS One. 2013;8(1):e54043
pubmed: 23342068
Pediatr Crit Care Med. 2009 Jul;10(4):e41-2
pubmed: 19584633
Biochim Biophys Acta Mol Basis Dis. 2017 Jul;1863(7):1770-1777
pubmed: 28433712
Respir Physiol Neurobiol. 2011 Aug 31;178(1):156-62
pubmed: 21569865
Nature. 1999 May 27;399(6734):366-70
pubmed: 10360575
Pediatric Health Med Ther. 2016 Aug 18;7:99-107
pubmed: 29388615
Neural Dev. 2008 Jun 19;3:14
pubmed: 18565209
Am J Respir Crit Care Med. 2010 Mar 15;181(6):626-44
pubmed: 20208042
Pediatr Pulmonol. 2008 Oct;43(10):1036-9
pubmed: 18785257
Orphanet J Rare Dis. 2020 Sep 21;15(1):252
pubmed: 32958024
Int J Mol Sci. 2021 Jul 05;22(13):
pubmed: 34281273
Am J Respir Crit Care Med. 2008 Apr 15;177(8):906-11
pubmed: 18079495
Bol Med Hosp Infant Mex. 2015 Jul - Aug;72(4):262-270
pubmed: 29421146
Can J Anaesth. 2011 Dec;58(12):1105-9
pubmed: 21989548
Neurosci Bull. 2021 Jan;37(1):31-44
pubmed: 32468398
Front Neural Circuits. 2018 Mar 09;12:21
pubmed: 29593504
Proc Natl Acad Sci U S A. 2008 Jan 22;105(3):1067-72
pubmed: 18198276
Ann Thorac Med. 2010 Jan;5(1):10-7
pubmed: 20351955
Acta Neuropathol. 2010 Feb;119(2):261-9
pubmed: 19844731
Am J Physiol Gastrointest Liver Physiol. 2013 Jul 1;305(1):G1-24
pubmed: 23639815
Isr Med Assoc J. 2010 Apr;12(4):249-50
pubmed: 20803889
DNA Res. 1996 Oct 31;3(5):311-20
pubmed: 9039501
Development. 2008 Jun;135(12):2151-60
pubmed: 18506029
Pediatr Pulmonol. 2012 Feb;47(2):153-61
pubmed: 21830319
Oman Med J. 2011 Sep;26(5):356-8
pubmed: 22125732
Development. 1997 Oct;124(20):4065-75
pubmed: 9374403
Eur J Pediatr. 2020 May;179(5):821-825
pubmed: 31950261
Pediatr Pulmonol. 2014 Feb;49(2):E13-6
pubmed: 23460419
Sleep Breath. 2015 Mar;19(1):55-60
pubmed: 24792884
J Neurosci. 2006 Oct 4;26(40):10305-14
pubmed: 17021186
Medicine (Baltimore). 1978 Nov;57(6):517-26
pubmed: 713831
Pediatr Pulmonol. 2016 Mar;51(3):300-7
pubmed: 26086998
Pediatr Res. 2005 Jul;58(1):1-6
pubmed: 15901893
Eur Respir J. 2007 Feb;29(2):312-6
pubmed: 17264323
Respir Physiol Neurobiol. 2013 Jan 1;185(1):186-93
pubmed: 23099221
Pediatr Res. 2008 Sep;64(3):226-7
pubmed: 18714200
BMC Pediatr. 2020 Jul 13;20(1):342
pubmed: 32660452
Oncogene. 2008 Jan 17;27(4):469-76
pubmed: 17637745
Anesth Analg. 2017 Jan;124(1):169-178
pubmed: 27918326
Front Neurosci. 2021 Jan 12;14:615666
pubmed: 33510615
Eur J Neurosci. 2015 Sep;42(6):2271-82
pubmed: 26096172