A Brazilian family with Brown-Vialetto-van Laere syndrome with autosomal recessive inheritance
A Brazilian family with Brown-Vialetto-van Laere syndrome with autosomal recessive inheritance
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DOI：
10.1590/s0004-282x2007000100008
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发表时间：
2007-03-01
影响因子：
1.4
通讯作者：
Cardoso, Francisco E.C.
中科院分区：
文献类型：
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作者：
Malheiros, José Augusto;Camargos, Sarah Teixeira;Cardoso, Francisco E.C.
我们报告了第一个患有 Brown-Vialetto-van Laere 综合征的巴西家庭。近亲结婚的存在以及影响三姐妹和一名侄女的疾病支持常染色体隐性传播。发病年龄为12岁至20岁。听力损失和其他脑神经受累之间的时间间隔从 3 年到 12 年不等。 MRI 显示延髓萎缩以及 T2 加权和液体衰减反转恢复 (FLAIR) 序列的高强度信号。
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.