Neuroimaging features in Wolfram syndrome type 1.

Neurol Sci

Department of Pediatrics, All India Institute of Medical Sciences, Bathinda, Punjab, 151001, India.

Published: June 2024

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.

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10072-024-07352-8DOI Listing

Publication Analysis

Top Keywords

wolfram syndrome
12
syndrome type
12
neuroimaging features
8
features wolfram
4
type wolfram
4
type rare
4
rare autosomal
4
autosomal recessive
4
recessive genetic
4
genetic disorder
4

Similar Publications

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!