Maternally inherited diabetes and deafness (MIDD) is a rare diabetic syndrome mainly caused by a point mutation in the mitochondrial DNA. It affects up to 1% of patients with diabetes but is often unrecognized by physicians. We report a case of MIDD in a 29-year-old man with coexisting imaging of cerebellar vermis hypoplasia and bilateral basal ganglia calcification.
Keywords: Basal ganglia calcification; Cerebellar vermis hypoplasia; Genetic; Maternally inherited diabetes and deafness; Mitochondrial.
© 2022. Fondazione Società Italiana di Neurologia.