Brown-Vialetto-Van Laere综合征一家系报告及文献复习

The Brown-Vialetto-Van Laere Syndrome:a Family Constellation Report and Literature Review

目的:报告一家系同胞兄妹3例Brown-Vialetto-Van Laere综合征。方法:结合国内外相关文献复习,对3病例进行分析,结果:该3例患者均以自幼双侧缓慢的、进行的神经性耳聋起病,随后发生讲话不清、饮水反呛和软腭反射减低,舌肌显著萎缩等下组脑神经损害的表现。肌电图都呈神经源性改变。诊断为Brown-Vialetto-Van Laere综合征。甲泼泥龙冲击治疗和免疫球蛋白静脉汪射(TVIG)治疗后症状改善。结论:Brown-Vialetto-Van Laere综合征是以双侧神经性耳聋伴有Ⅶ,Ⅸ,Ⅻ脑神经麻痹为特征的一种罕见运动神经元疾病。临床症状和肌电图是诊断Brown-Vialetto-Van Laere综合征的主要依据。糖皮质激素及IVIG治疗可能有效。

Aim:Reported 3 patients of Brown-Vialetto-Van Laere syndrome in a family constellation. Methods:Review of the literature related to home and abroad,an analysis of 3 cases.Results:The 3 patients were onset with hibateral nerve deafness which progressed slowly,and then manifestated with alalia,drinking bucking,lower swallowing reflex and lingual muscle atrophy.Electromyogram(EMG) demonstrated neural lesions.They were diagnosed as Brown-Vialetto-Van Laere syndrome and their clinical situations were improved by...