Pendred syndrome: study of three families

Although the textbook view of the Pendred syndrome is that of an autosomal recessive condition characterised by deafness and goitre, it is increasingly clear that not all patients present this classical clinical description. Malform-ations of the inner ear, specifically, enlargement of the vestibular aqueduct, are common in the Pendred syndrome. Mutations in the Pendred syndrome gene have been observed in patients with deafness and vestibular aqueduct dilatation, in the absence of other Pendred syndrome features. In our study, all patients with congenital profound or severe sensory-neural deafness were evaluated using computed tomography and magnetic resonance imaging, followed by genetic examinations and blood tests. The procedure followed was the sensory-neural child deafness protocol elaborated by the Joint Committee for Infant Hearing based on skull and petrous bone. In 3 families, the computed tomography scans (performed on 7 out of 8 of these deaf subjects) showed enlarged vestibular aqueducts. The present study evaluates whether or not enlargement of the vestibular aqueduct should be considered as the most likely presentation of the Pendred syndrome.