Sensorineural impairment in maternally inherited diabetes mellitus and deafness (MIDD) disorder

Objectives The diagnosis of maternally inherited diabetes and deafness (MIDD) is suspected based on the presence of maternal impaired glucose tolerance or diabetes associated to hearing impairment or retinal maculopathy. MIDD is caused by a mutation at position 3243 of the mitochondrial DNA. Here, we report a child having a maculopathie and a hearing loss associated to MIDD. The aim of this work is to show the importance of ophthalmic imaging in the characterization and diagnosis of MIDD syndrome. Methods Clinical, otologic and ophtalmic examination as well as optic multimodal imaging were conducted for a child suspected to have MIDD syndrome. Results The case report was an eight-year-old female child from Tunisia for who a sensorineural hearing loss was diagnosed and treated by a cochlear implantation. Her diabetes was revealed by ketoacidosis. Ophthalmic examination showed an alteration of the macula with fine perifoveal deposits and a retinal pigment epithelium atrophy in the macular area. Multifocal electroretinography showed normal function of photoreceptors. Conclusion The diagnosis of MIDD was confirmed by the coexistence of diabetes mellitus, sensorineural hearing loss and a well characterized macular dystrophy. The retinal pigment epithelium impairment may be present without or precede photoreceptors dysfunction in MIDD.
Keywords: MIDD, hearing impairment, retinal maculopathy