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Two siblings with progressive, fluctuating hearing loss after head trauma, treated with cochlear implantation

Published online by Cambridge University Press:  23 June 2009

M J F de Wolf ,
J Honings ,
F B M Joosten ,
L Hoefsloot ,
E A M Mylanus  and
C W R J Cremers
M J F de Wolf*
Affiliation:
Department of Otorhinolaryngology, Donders Centre of Neuroscience, Arnhem, The Netherlands
J Honings
Affiliation:
Department of Otorhinolaryngology, Donders Centre of Neuroscience, Arnhem, The Netherlands
F B M Joosten
Affiliation:
Department of Radiology, Alysis Zorggroep, Location Rijnstate, Arnhem, The Netherlands
L Hoefsloot
Affiliation:
Department of Human Genetics, Radboud University Nijmegen Medical Center, Arnhem, The Netherlands
E A M Mylanus
Affiliation:
Department of Otorhinolaryngology, Donders Centre of Neuroscience, Arnhem, The Netherlands
C W R J Cremers
Affiliation:
Department of Otorhinolaryngology, Donders Centre of Neuroscience, Arnhem, The Netherlands
*
Address for correspondence: Dr M J F de Wolf, Department of Otorhinolaryngology, Radboud University Nijmegen Medical Centre, PO Box 9101, 6500 HB, Nijmegen, The Netherlands. Fax: 0031 24 354 02 51 E-mail: [email protected]
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Abstract

Objective:

Description of two siblings with unexplained, progressive, perceptive hearing loss after head trauma.

Design:

Case report.

Subjects:

Two siblings aged six and eight years old with bilateral, intermittent but progressive hearing loss.

Results:

These patients had a c.1172G>A (p.Ser391Asn) mutation in the SLC26A4 gene, which has not previously been reported and which caused Pendred or enlarged vestibular aqueduct syndrome. The diagnosis was based on the perceptive hearing loss, computed tomography findings and mutation analysis. The patients were each fitted with a cochlear implant because of their severe, progressive, perceptive hearing loss with deep fluctuations. The results were good.

Conclusion:

Further testing for the presence of an enlarged vestibular aqueduct is recommended when children present with sudden progression in perceptive hearing loss, whether or not in combination with head trauma. Cochlear implantation is indicated in patients with persistent, progressive hearing loss that leads to deafness. Implantation can be undertaken successfully despite cochlear hypoplasia.

Keywords

Pendrin proteinSensorineural Hearing LossHead InjuryChildDiagnosis
Type
Clinical Records
Information
The Journal of Laryngology & Otology , Volume 124 , Issue 1 , January 2010 , pp. 86 - 89
Copyright
Copyright © JLO (1984) Limited 2009

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