Leukoencephalopathy, calcifications, and cysts: Labrune syndrome.
Cerebral calcifications
Cerebral cysts
Leukoencephalopathy
Microangiopathy
Ribosomopathy
White matter
Journal
Radiology case reports
ISSN: 1930-0433
Titre abrégé: Radiol Case Rep
Pays: Netherlands
ID NLM: 101467888
Informations de publication
Date de publication:
Feb 2023
Feb 2023
Historique:
received:
29
10
2022
revised:
03
11
2022
accepted:
04
11
2022
entrez:
1
12
2022
pubmed:
2
12
2022
medline:
2
12
2022
Statut:
epublish
Résumé
Labrune syndrome is an extremely rare disorder characterized by a radiological triad of leukoencephalopathy, cerebral calcifications, and cysts. The condition is the result of an autosomal mutation in the SNORD118 gene, a non-protein encoding gene that mediates rRNA synthesis. The mutation results selectively in cerebral microangiopathy through an unknown mechanism. Radiological imaging is central to diagnosing the condition, but, because the condition is so rare, there is no standard treatment paradigm. We describe the longitudinal progression of a case of Labrune syndrome, including the radiological diagnosis and imaging and surgical management.
Identifiants
pubmed: 36452891
doi: 10.1016/j.radcr.2022.11.026
pii: S1930-0433(22)01010-X
pmc: PMC9703455
doi:
Types de publication
Case Reports
Langues
eng
Pagination
584-590Informations de copyright
© 2022 The Authors. Published by Elsevier Inc. on behalf of University of Washington.
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