CT-scans of cochlear implant patients with characteristics of Pendred syndrome.

[pendred syndrome]

Sensorineural hearing loss (SNHL ) in newborns is estimated with an incidence around 1 :10 ,000 per year and is divided into syndromic and non-syndromic forms . In case of present retrocochlear function ' cochlear implantation allows speech and cognitive development in affected children , comparable to that of normal hearing children . Pathogenesis of SNHL remains unclear in many cases . Imaging of the temporal bone , such as computed tomography (CT ) and magnetic resonance imaging (MRI ), can reveal conspicuous findings , e .g . enlarged vestibular aqueduct (EVA ) and Mondini malformation (MM ) of the cochlea . These malformations can be a clinical sign for Pendred syndrome .We screened CT scans of 75 cochlear implant patients for EVA and MM .Six patients were observed to have either EVA alone (n =3 ), or MM alone (n =2 ), or a combination of both (n =1 ). Further malformations of the temporal bone could be found within the whole group , as well .Our results confirm the general opinion on EVA and MM , being commonly found in patients with SNHL . A possible association with Pendred syndrome needs to be confirmed by genetic investigations with search for mutations in the SLC 26 A 4 gene and further clinical tests , such as Perchlorate test for surveillance of thyroid function .

Diseases
Validation

Diseases presenting "mutations in the slc26a4 gene" symptom

pendred syndrome

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