Maternally inherited diabetes mellitus and deafness (MIDD): A case report and review of literature

Abstract

Maternally inherited diabetes and deafness (MIDD) is a rare subtype of diabetes with a prevalence of up to 1% globally but often missed if not suspected. We present a case of MIDD and a thorough review of the literature related to it. The phenotypic presentation of diabetes depends on heteroplasmy levels of m.3243A>G mutation of the individual patient. Patients with MIDD may have involvement of other organs such as eye, muscles, kidney, and heart. In our patient, along with diabetes and deafness, there was also an associated vision loss with a strong maternal inheritance of diabetes. A young male who presented with diabetic ketoacidosis (DKA) and hearing and vision impairment and on further diagnostic work up turned out to be a case of genetically confirmed (m.3243A>G mutation) MIDD. To the best of our knowledge, this should be the first case of MIDD presenting as DKA being reported from India.

Keywords

• m.3243a>g
• maternal diabetes
• mitochondrial encephalomyopathy
• lactic acidosis and stroke-like episodes
• midd
• mitochondrial diabetes
• mtdna