Rare Diseases Symptoms Automatic Extraction

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 SLC26A4 gene and further clinical tests, such as Perchlorate test for surveillance of thyroid function.

Diseases presenting "cognitive development" symptom

  • 22q11.2 deletion syndrome
  • classical phenylketonuria
  • pendred syndrome
  • proteus syndrome
  • wolf-hirschhorn syndrome

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