hrp0084p3-712 | Diabetes | ESPE2015

A Novel Compound Heterozygous Mutation in an Adolescent with Insulin-dependent Diabetes: A Case Report of Wolfram Syndrome

Maltoni Giulio , Mantovani Vilma , Zucchini Stefano , Cristalli Carlotta Pia , Minardi Raffaella , Mazzanti Laura

Background: Wolfram syndrome (WS) is an autosomal recessive neurodegenerative disorder characterized by non-autoimmune diabetes mellitus and progressive optic atrophy. WS includes other possible disorders, such as diabetes insipidus, sensorineural deafness, genitourinary tract problems, neurological or psychiatric disorders and others.Case presentation: A 12-years-old boy presented with glicosuria and shortly developed insulin-dependent diabetes mellitus...