Brown-Vialetto-Van Laere syndrome: Report of five Iranian cases

Brown-Vialetto-Van Laere Syndrome (BVVLS) is a rare neurological disorder of unknown etiology considered to be a form of motor neuron diseases. This syndrome is characterized by bilateral deafness and involvement of lower cranial nerves, especially 7th-12th. UMN signs are less frequent. Until 2007, only fifty eight cases were reported. Half of the reported cases were sporadic. In the remaining cases, different patterns of inheritance were suggested including autosomal recessive, autosomal dominant and x-linked. We describe 5 cases of BVVLS (4 females and 1 male) who were all sporadic, with a history of parents consanguinity in 2 of them. Our study is the first case report from Iran and one of the largest series ever reported and emphasizes the necessity to investigate the molecular pathogenesis of this syndrome.