Article
An Atypical Case of Late-Onset Wolfram Syndrome 1 without Diabetes Insipidus.
International journal of environmental research and public health - 21 Feb 2022
Rigoli Luciana, Caruso Valerio, Aloi Concetta, Salina Alessandro, Maghnie Mohamad, d'Annunzio Giuseppe, Lamacchia Olga, Salzano Giuseppina, Lombardo Fortunato, Picca Giuseppe
Abstract excerpt
Wolfram syndrome 1, a rare autosomal recessive neurodegenerative disease, is caused by mutations in the WFS1 gene. It is characterized by diabetes insipidus, diabetes mellitus, optic atrophy, and deafness (DIDMOAD), and other clinical manifestations such as urological and neurological disorders. Here we described the case of a patient with an atypical late-onset Wolfram syndrome 1 without DI. Our WS1 patient was...
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