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Original Article

Neuro-otological findings in Pendred syndrome: Hallazgos neuro-otológicos en el Sindrome de Pendred

, , , , , , & show all
Pages 82-88 | Received 08 Aug 2001, Accepted 22 May 2002, Published online: 07 Jul 2009
 

Abstract

Pendred syndrome is an autosomal recessive inherited disorder characterized by profound hearing impairment and inappropriate iodine release by the thyroid on perchlorate challenge. Thirty-three cases comprising members of 13 families and eight isolated cases were studied, with detailed audiological and vestibular investigation and computerized tomography. A uniform, profound, symmetrical sensorineural hearing loss was identified in all cases. Approximately one-third of the group reported progressive hearing impairment, in childhood or adolescence, associated with head injury, infection, or delayed secondary hydrops. Ninety per cent of the cases scanned showed dilated vestibular aqueducts, and all cases with progression of the hearing impairment demonstrated this structural abnormality. Approximately one-third of the cases had normal vestibular function, but a further third demonstrated a unilateral peripheral deficit, while the remaining third showed bilateral vestibular hypofunction. There was no intra-familial concordance of vestibular findings, and no correlation between vestibular abnormality and presence or absence of a dilated vestibular aqueduct, with or without a Mondini malformation. In older children and adults, Pendred syndrome was associated with a profound, symmetrical, sensorineural auditory impairment, and a variety of vestibular abnormalities, which are not uniform within families, or correlated with structural labyrinthine deformities.

El sindrome de Pendred es un trastorno here-ditario autosómico recesivo que se caracteriza por una hipoacusia profunda y una liberación inapropiada de yodo por la tiroides en respuesta a perclorato. Se estudiaron 33 casos, miembros de 13 familias y ocho casos aislados, por medio de exámenes audiológicos y vestibulares minuciosos y de TC. Se identificó una hipoacusia sensorineural uniforme, profunda y simétrica en todos los casos. Aproximadamente un tercio del grupo reportó una pérdida auditiva progresiva, en la niñez o en la adolescencia, asociada a lesión ccfálica, infección o hidrops tardio secundario. En el noventa por ciento de los casos, la tomografia mostró acueductos vestibulares dilatados y en todos en los que hubo progresión del problema auditivo se demostró esta anormalidad estructural. Aproximadamente un tercio de los casos tenian función vestibular normal pero otro tercio mostró déficit unilateral periférico en tanto el otro tercio mostró hipofunción vestibular bilateral. No se encontró concordancia intra-familiar de los hallazgos vestibulares y no hubo correlación entre la anormalidad vestibular y la presencia o ausencia de un acueducto vestibular dilatado, con o sin malformación de Mondini. En los niños más grandes y en los adultos, el sindrome de Pendred se asoció a hipoacusia sensorineural profunda y simétrica, además de una variedad de anormali-dades vestibulares, las cuales no son uniformes en las familias ni se correlacionan con deformídades laberinticas estructurales.

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