A brazilian family with Brown-Vialettovan Laere syndrome with autosomal recessive inheritance

被引:10
作者
Malheiros, Jose Augusto [1 ]
Camargos, Sarah Teixeira [1 ]
de Oliveira, Jose Teotonio [1 ]
Cardoso, Francisco E. C. [1 ]
机构
[1] Univ Fed Minas Gerais, Sch Med, Dept Internal Med, BR-30000 Belo Horizonte, MG, Brazil
关键词
Brown-Vialetto-van Laere syndrome; autosomal recessive inheritance; hearing impairment;
D O I
10.1590/S0004-282X2007000100008
中图分类号
Q189 [神经科学];
学科分类号
071006 ;
摘要
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.
引用
收藏
页码:32 / 35
页数:4
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