A Mother and a Child with Maternally Inherited Diabetes and Deafness (MIDD) Showing Atrophy of the Cerebrum, Cerebellum and Brainstem on Magnetic Resonance Imaging (MRI)

Abstract

A mother and a child with maternally inherited diabetes and deafness (MIDD) showing atrophy of the cerebrum, cerebellum and brainstem on magnetic resonance imaging (MRI) were reported. The proband had slowly progressive cerebellar ataxia and her son had depression. Mitochondrial DNA purified from their leucocytes had the heteroplasmic point mutation at position 3243 (A→G). Involvement of the central nervous system should be considered in MIDD as well as in other mitochondrial diseases.