A clinical case of mitochondrial diabetes is reported in a young woman aged 26, also presenting with a neurosensorial deafness. A type MELAS 3243 A>G mutation was found and confirmed the diagnosis which was raised by the maternal history of diabetes and hearing impairment. Clinical description, associated co-morbidities, genetic analysis and differential diagnosis of this monogenic diabetes are presented. Early diagnosis and treatment are useful, and should be associated with a familial genetic diagnostic approach.
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