International Journal of Pediatric Otorhinolaryngology Extra
Volume 3, Issue 4 , Pages 177-181 , December 2008

Head trauma as eliciting event in transient deterioration of sensorineural hearing loss and vertigo in Pendred/EVA syndrome

  • Jimmie Honings

      Affiliations

    • Department of Oto-Rhino-Laryngology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    • Corresponding Author InformationCorresponding author at: Department of Oto-Rhino-Laryngology, Radboud University Nijmegen Medical Centre, P.O. Box 9101, 6500 HB Nijmegen, Nijmegen, The Netherlands. Tel.: +31 24 361 4450; fax: +31 24 354 0251.
    • ,
  • Ronald J.E. Pennings

      Affiliations

    • Department of Oto-Rhino-Laryngology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    • ,
  • Lies H. Hoefsloot

      Affiliations

    • Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    • ,
  • Frank B.M. Joosten

      Affiliations

    • Department of Radiology, Rijnstate Hospital, Arnhem, The Netherlands
    • ,
  • Cor W.R.J. Cremers

      Affiliations

    • Department of Oto-Rhino-Laryngology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands

Received 22 February 2008 ,Accepted 22 March 2008.

References 

  1. Fraser GR. Association of congenital deafness with goitre (Pendred's syndrome): a study of 207 families. Ann Hum Genet. 1965;28:201–249
  2. Everett LA, Glaser B, Beck JC, Idol JR, Buchs A, Heyman M, et al. Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS). Nat Genet. 1997;17:411–422
  3. Usami S, Abe S, Weston MD, Shinkawa H, Van CG, Kimberling WJ. Non-syndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutations. Hum Genet. 1999;104:188–192
  4. Scott DA, Wang R, Kreman TM, Sheffield VC, Karniski LP. The Pendred syndrome gene encodes a chloride–iodide transport protein. Nat Genet. 1999;21:440–443
  5. Cremers CW, Admiraal RJ, Huygen PL, Bolder C, Everett LA, Joosten FB, et al. Progressive hearing loss, hypoplasia of the cochlea and widened vestibular aqueducts are very common features in Pendred's syndrome. Int J Pediatr Otorhinolaryngol. 1998;45:113–123
  6. Everett LA, Morsli H, Wu DK, Green ED. Expression pattern of the mouse ortholog of the Pendred's syndrome gene (Pds) suggests a key role for pendrin in the inner ear. Proc Natl Acad Sci USA. 1999;96:9727–9732
  7. Everett LA, Belyantseva IA, Noben-Trauth K, Cantos R, Chen A, Thakkar SI, et al. Targeted disruption of mouse Pds provides insight about the inner-ear defects encountered in Pendred syndrome. Hum Mol Genet. 2001;10:153–161
  8. Jackler RK, De La Cruz A. The large vestibular aqueduct syndrome. Laryngoscope. 1989;99:1238–1242
  9. Colvin IB, Beale T, Harrop-Griffiths K. Long-term follow-up of hearing loss in children and young adults with enlarged vestibular aqueducts: relationship to radiologic findings and Pendred syndrome diagnosis. Laryngoscope. 2006;116:2027–2036
  10. Phelps PD, Coffey RA, Trembath RC, Luxon LM, Grossman AB, Britton KE, et al. Radiological malformations of the ear in Pendred syndrome. Clin Radiol. 1998;53:268–273
  11. Stinckens C, Huygen PL, Van Camp G, Cremers CW. Pendred syndrome redefined. Report of a new family with fluctuating and progressive hearing loss. Adv Otorhinolaryngol. 2002;61:131–141
  12. Kunst HPM, Kremer H, Cremers CW. Inherited syndromic hearing impairment. Genetics for ENT specialists. London: Remedica Publishing; 2004;p. 57–127
  13. Pryor SP, Madeo AC, Reynolds JC, Sarlis NJ, Arnos KS, Nance WE, et al. SLC26A4/PDS genotype-phenotype correlation in hearing loss with enlargement of the vestibular aqueduct (EVA): evidence that Pendred syndrome and non-syndromic EVA are distinct clinical and genetic entities. J Med Genet. 2005;42:159–165
  14. Azaiez H, Yang T, Prasad S, Sorensen JL, Nishimura CJ, Kimberling WJ, et al. Genotype-phenotype correlations for SLC26A4-related deafness. Hum Genet. 2007;122:451–457

PII: S1871-4048(08)00027-0

doi: 10.1016/j.pedex.2008.03.007

International Journal of Pediatric Otorhinolaryngology Extra
Volume 3, Issue 4 , Pages 177-181 , December 2008

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