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Arquivos de Neuro-Psiquiatria

Print version ISSN 0004-282XOn-line version ISSN 1678-4227

Abstract

MALHEIROS, José Augusto; CAMARGOS, Sarah Teixeira; OLIVEIRA, José Teotonio de  and  CARDOSO, Francisco E.C.. A Brazilian family with Brown-Vialetto-van Laere syndrome with autosomal recessive inheritance. Arq. Neuro-Psiquiatr. [online]. 2007, vol.65, n.1, pp.32-35. ISSN 0004-282X.  http://dx.doi.org/10.1590/S0004-282X2007000100008.

We report the first Brazilian family with Brown-Vialetto-van Laere syndrome. The presence of consanguineous marriages and illness affecting three sisters and one niece support an autosomal recessive transmission. The age at onset of the illness ranged from 12 to 20 years old. The time interval between hearing loss and involvement of other cranial nerves varied from 3 to 12 years. MRI demonstrated bulbar atrophy and also high intensity signal at T2 weighted and fluid attenuated inversion recovery (FLAIR) sequences.

Keywords : Brown-Vialetto-van Laere syndrome; autosomal recessive inheritance; hearing impairment.

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