[Cochlear implantation in a girl with 7q-microdeletion syndrome]. / Cochleaimplantatversorgung eines Mädchens mit 7q-Mikrodeletionssyndrom.

ABSTRACT

One of the rare genetic diseases with sensory hearing loss is the microdeletion 7q syndrome. First described in the 1990s, only 7 cases of patients with this disease are described in the literature. Although this mutation is not well known, otological treatment is necessary if the DFNA5 gene is affected. A mutation in this gene leads to progressive hearing loss. Affected children therefore need regular evaluation of their hearing to ensure adequate treatment with hearing aids at early stages. We now present a case of an affected child with sensory hearing loss, mental retardation and anogenital malformations. In the following we describe the course of disease and possible treatment options. We especially describe the possibility of cochlear implantation. We can show with this case report that, even though massive mental retardation is shown, cochlear implantation is useful in this patient. Associated disabilities as cardiac and pulmonary problems may occur and should be treated before cochlear implantation. This is the first report of cochlear implantation in a child affected with microdeletion 7q syndrome.