Elsevier

Clinical Radiology

Volume 53, Issue 4, April 1998, Pages 268-273
Clinical Radiology

Radiological malformations of the ear in pendred syndrome

https://doi.org/10.1016/S0009-9260(98)80125-6Get rights and content

Pendred syndrome comprises the association of severe congenital sensorineural deafness with thyroid pathology. Although it is the commonest form of syndromic hearing loss, the primary genetic defect remains unknown. The variable clinical presentation allied to the difficulty in securing the diagnosis have resulted in relatively poor documentation of the radiological features of this syndrome. We now present data on 40 patients, all complying with strict diagnostic criteria for the disorder, and describe our experience of the prevalence of specific malformations of the inner ear as well as comparing the relative merits of computed tomography (CT) and magnetic resonance imaging (MRI) in the investigation of this inherited condition. Deficiency of the interscalar septum in the distal coils of the cochlea (Mondini deformity) was found to be a common but probably not a constant feature of Pendred syndrome. However, enlargement of the endolymphatic sac and duct in association with a large vestibular aqueduct was present in all 20 patients examined by MRI. We conclude that thin section high resolution MRI on a T2 protocol in the axial and sagittal planes is the imaging investigation of choice.

References (26)

  • PendredV

    Deaf-mutism and goitre

    Lancet

    (1896)
  • MorgansME et al.

    Association of congenital deafness with goitre: the nature of the thyroid defect

    Lancet

    (1958)
  • ValvassoriGE

    The large vestibular aqueduct and associated anomalies of the inner ear

    Otolaryngologic Clinics of North America

    (1983)
  • BrainWR

    Heredity in simple goitre

    Quarterly Journal of Medicine

    (1927)
  • FraserGR

    Association of congenital deafness with goitre (Pendred's syndrome); a study of 207 families

    Annals of Human Genetics

    (1965)
  • FraserGR et al.

    The syndrome of sporadic goitre and congenital deafness

    Quarterly Journal of Medicine

    (1960)
  • Hvidberg-HansenJ et al.

    The inner ear in Pendred's syndrome

    Acta Oto-laryngologica

    (1968)
  • MondiniC

    Anatomica surdi nati sectio: De Bononiensi Scientarium et artium Instituto atque academia commentarii

    Bononia VII (Opuscula)

    (1791)
  • JensenJ

    Tomography of the inner ear in deaf children

    Journal of Laryngology and Otology

    (1967)
  • IllumP et al.

    Fifteen cases of Pendred's syndrome

    Archives of Otolaryngology

    (1972)
  • JohnsenT et al.

    CT scanning of the cochlea in Pendred's syndrome

    Clinical Otolaryngology

    (1989)
  • ValvassoriGE et al.

    The large vestibular aqueduct syndrome

    Laryngoscope

    (1978)
  • O'MahoneyCF et al.

    When the triad of congenital hearing loss, goitre and perchlorate positive is not Pendred syndrome

    J Audiol Med

    (1996)
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