Solving the hypomyelination conundrum - Imaging perspectives.
Hypomyelination
Leukodystrophy
Metabolic disease
White matter disease
Journal
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
ISSN: 1532-2130
Titre abrégé: Eur J Paediatr Neurol
Pays: England
ID NLM: 9715169
Informations de publication
Date de publication:
Jul 2020
Jul 2020
Historique:
received:
04
09
2019
revised:
25
03
2020
accepted:
14
04
2020
pubmed:
19
5
2020
medline:
20
11
2020
entrez:
19
5
2020
Statut:
ppublish
Résumé
Hypomyelinating Leukodystrophies (HLDs) are a genetically heterogeneous, clinically overlapping group of disorders with the unifying MR imaging appearance of myelin deficit in the brain. In fact, it is the MRI phenotype that typically raises the diagnostic suspicion in this single largest group of undiagnosed leukodystrophies and guides gene testing for confirmation. This article reviews the neurobiology of myelination, focussing on the complex interplay of molecular genetic pathways and presents a practical clinico-radiological diagnostic algorithm based on the neuroimaging patterns of the common hypomyelinating disorders. The authors also address the current controversies about the definition and use of the term 'hypomyelination'.
Identifiants
pubmed: 32418752
pii: S1090-3798(20)30078-7
doi: 10.1016/j.ejpn.2020.04.007
pii:
doi:
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
9-24Commentaires et corrections
Type : CommentIn
Informations de copyright
Copyright © 2020 European Paediatric Neurology Society. All rights reserved.
Déclaration de conflit d'intérêts
Declaration of competing interest The authors declare that they have no conflict of interest.