MR Neuroimaging in Pediatric Inborn Errors of Metabolism.
MRI
MRS
errors
inborn
magnetic
metabolism
resonance
spectroscopy
Journal
Diagnostics (Basel, Switzerland)
ISSN: 2075-4418
Titre abrégé: Diagnostics (Basel)
Pays: Switzerland
ID NLM: 101658402
Informations de publication
Date de publication:
30 Mar 2022
30 Mar 2022
Historique:
received:
20
02
2022
revised:
24
03
2022
accepted:
25
03
2022
entrez:
23
4
2022
pubmed:
24
4
2022
medline:
24
4
2022
Statut:
epublish
Résumé
Inborn errors of metabolism (IEM) are a group of disorders due to functional defects in one or more metabolic pathways that can cause considerable morbidity and death if not diagnosed early. While individually rare, the estimated global prevalence of IEMs comprises a substantial number of neonatal and infantile disorders affecting the central nervous system. Clinical manifestations of IEMs may be nonspecific. Newborn metabolic screens do not capture all IEMs, and likewise, genetic testing may not always detect pathogenic variants. Neuroimaging is a critical component of the work-up, given that imaging sometimes occurs before prenatal screen results are available, which may allow for recognition of imaging patterns that lead to early diagnosis and treatment of IEMs. This review will demonstrate the role of magnetic resonance imaging (MRI) and proton magnetic resonance spectroscopy (
Identifiants
pubmed: 35453911
pii: diagnostics12040861
doi: 10.3390/diagnostics12040861
pmc: PMC9027484
pii:
doi:
Types de publication
Journal Article
Review
Langues
eng
Références
Radiographics. 2019 Oct;39(6):1672-1695
pubmed: 31589567
Neuropediatrics. 2016 Dec;47(6):355-360
pubmed: 27643693
Ann Neurol. 2001 Mar;49(3):401-4
pubmed: 11261517
Pol J Radiol. 2015 Apr 10;80:181-90
pubmed: 25908949
Neurology. 2002 Mar 26;58(6):901-7
pubmed: 11914405
Am J Med Genet A. 2017 Jun;173(6):1502-1513
pubmed: 28402605
Neurology. 2012 Apr 24;78(17):1304-8
pubmed: 22459681
J Magn Reson Imaging. 2013 Feb;37(2):294-312
pubmed: 22566357
J Glob Health. 2018 Dec;8(2):021102
pubmed: 30479748
Ann Neurol. 2016 Mar;79(3):379-86
pubmed: 26642834
AJNR Am J Neuroradiol. 2019 Jan;40(1):178-183
pubmed: 30635331
Neuroradiology. 2022 Jun;64(6):1111-1126
pubmed: 35224679
Magn Reson Imaging Clin N Am. 2021 Nov;29(4):543-555
pubmed: 34717844
Magn Reson Med. 2019 Aug;82(2):527-550
pubmed: 30919510
AJNR Am J Neuroradiol. 2006 Jan;27(1):204-7
pubmed: 16418384
J Neuroradiol. 2007 May;34(2):75-88
pubmed: 17459477
Handb Clin Neurol. 2018;147:293-305
pubmed: 29325618
Brain Dev. 2016 Apr;38(4):435-8
pubmed: 26515723
Magn Reson Med Sci. 2022 Mar 1;21(1):9-28
pubmed: 34421092
Radiographics. 2014 Sep-Oct;34(5):1257-72
pubmed: 25208279
JIMD Rep. 2016;28:69-74
pubmed: 26537576
Radiographics. 2010 May;30(3):763-80
pubmed: 20462993
Transl Pediatr. 2021 Apr;10(4):1201-1230
pubmed: 34012862
Clin Perinatol. 2015 Jun;42(2):337-61, ix
pubmed: 26042908
J Inherit Metab Dis. 2021 May;44(3):728-739
pubmed: 33373467
Am J Hum Genet. 2001 Nov;69(5):1127-33
pubmed: 11555793
Genet Med. 2019 Jan;21(1):102-106
pubmed: 29884839
AJR Am J Roentgenol. 2011 Dec;197(6):1449-59
pubmed: 22109302
Neurology. 2019 Apr 9;92(15):e1698-e1708
pubmed: 30902905
Cerebellum. 2021 Aug;20(4):631-658
pubmed: 33534089
Radiographics. 2018 May-Jun;38(3):912-931
pubmed: 29757724
AJNR Am J Neuroradiol. 2012 Dec;33(11):2062-7
pubmed: 22723063
AJNR Am J Neuroradiol. 2020 May;41(5):917-922
pubmed: 32381541
AJR Am J Roentgenol. 2014 Sep;203(3):W315-27
pubmed: 25148190
Orphanet J Rare Dis. 2013 Jun 06;8:83
pubmed: 23742248
J Clin Imaging Sci. 2019 May 24;9:25
pubmed: 31448176
Transl Pediatr. 2021 Apr;10(4):1169-1200
pubmed: 34012861
Brain Sci. 2020 Nov 12;10(11):
pubmed: 33198265
AJNR Am J Neuroradiol. 2014 Oct;35(10):1990-5
pubmed: 24812013
Pediatr Radiol. 2013 Jul;43(7):882-5
pubmed: 23250031
Radiology. 2009 Jun;251(3):856-65
pubmed: 19474378
Brain. 2010 Oct;133(10):2971-82
pubmed: 20881161
AJNR Am J Neuroradiol. 2006 Jun-Jul;27(6):1373-8
pubmed: 16775300
Pediatr Res. 1994 Sep;36(3):409-13
pubmed: 7808840
Neuroradiology. 2022 Jun;64(6):1101-1110
pubmed: 35178593
Brain Commun. 2020 Oct 26;2(2):fcaa178
pubmed: 33629063
Neurology. 2013 Jan 15;80(3):261-7
pubmed: 23269594
AJR Am J Roentgenol. 2010 May;194(5):W367-74
pubmed: 20410380
Front Genet. 2021 Jul 01;12:683255
pubmed: 34276785