Neuro-otological findings in Pendred syndrome.

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