Journal
ARQUIVOS DE NEURO-PSIQUIATRIA
Volume 65, Issue 1, Pages 32-35Publisher
ASSOC ARQUIVOS DE NEURO- PSIQUIATRIA
DOI: 10.1590/S0004-282X2007000100008
Keywords
Brown-Vialetto-van Laere syndrome; autosomal recessive inheritance; hearing impairment
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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.
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