A deaf mother and son with diabetes and renal failure

Chronic renal failure is a well-known complication of long-standing diabetes. Moreover, audiological abnormalities are a common feature of patients with end-stage renal disease. Severe deafness, however, is not a typical symptom in most patients with chronic renal failure and likewise in patients with diabetes mellitus. In this case report, we describe a young patient with insulin-dependant diabetes mellitus, severe deafness requiring hearing aid and chronic renal failure outlining typical clinical features of the maternally inherited diabetes with deafness syndrome. Genetic testing confirmed the presence of the m.3243A>G mutation.