Neuroimaging features in Wolfram syndrome type 1.
Acronym DIDMOAD
Vestibulocochlear dysplasia
Wolfram syndrome type 1
Journal
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
ISSN: 1590-3478
Titre abrégé: Neurol Sci
Pays: Italy
ID NLM: 100959175
Informations de publication
Date de publication:
31 Jan 2024
31 Jan 2024
Historique:
received:
09
01
2024
accepted:
20
01
2024
medline:
31
1
2024
pubmed:
31
1
2024
entrez:
30
1
2024
Statut:
aheadofprint
Résumé
Wolfram syndrome type 1 is a rare autosomal recessive genetic disorder which is characterized by the co-existence of diabetes insipidus, diabetes mellitus, optic atrophy, and deafness, and hence is also referred to as the acronym DIDMOAD. In this neuroimage, the typical neuroimaging features of a genetically confirmed case of Wolfram syndrome type 1 are presented. The presence of left-sided vestibulocochlear dysplasia is a novel finding in our case which has not been reported previously.
Identifiants
pubmed: 38291196
doi: 10.1007/s10072-024-07352-8
pii: 10.1007/s10072-024-07352-8
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Informations de copyright
© 2024. Fondazione Società Italiana di Neurologia.
Références
Gocmen R, Guler E (2014) Teaching neuroimages: MRI of brain findings of Wolfram (DIDMOAD) syndrome. Neurology 83(24):e213–e214. https://doi.org/10.1212/WNL.0000000000001082
doi: 10.1212/WNL.0000000000001082
pubmed: 25488999
Ito S, Sakakibara R, Hattori T (2007) Wolfram syndrome presenting marked brain MR imaging abnormalities with few neurologic abnormalities. AJNR Am J Neuroradiol 28(2):305–306
pubmed: 17297000
pmcid: 7977398