[Not Available].

In this case report, a 68-year-old woman, with known insulin-dependent diabetes and myelomatosis, presented with ear pain in her right ear. Otomicroscopy showed exposed bone in the external auditory canal. The patient was examined with wound swab, biopsies, MRI and PET-CT scans to rule out necrotizing external otitis, cholesteatoma and malignancy.

[Enlarged vestibular aqueduct in a ten-year-old girl].

Enlarged vestibular aqueduct (EVA) is a malformation in the inner ear and occurs in approximately 1-12% of the hearing-impaired individuals. A ten-year-old girl was seen at the emergency room (ER) because of sudden hearing loss on the right ear. The patient was known with sudden deafness on the left ear.

Identification of p.A684V missense mutation in the WFS1 gene as a frequent cause of autosomal dominant optic atrophy and hearing impairment.

Optic atrophy (OA) and sensorineural hearing loss (SNHL) are key abnormalities in several syndromes, including the recessively inherited Wolfram syndrome, caused by mutations in WFS1. In contrast, the association of autosomal dominant OA and SNHL without other phenotypic abnormalities is rare, and almost exclusively attributed to mutations in the Optic Atrophy-1 gene (OPA1), most commonly the p.R445H mutation.