布朗-维亚莱托-范拉雷综合征

IF 0.8 Q4 CLINICAL NEUROLOGY Iranian Journal of Child Neurology Pub Date : 2024-01-01 Epub Date: 2024-03-12 DOI:10.22037/ijcn.v18i2.37314
Shima Imannezhad, Ehsan Ghayoor Karimiani, Majid Sezavar, Gholam Reza Khademi, Maryam Naseri, Farah Ashrafzadeh
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引用次数: 0

摘要

布朗-维亚莱托-万-拉雷综合征(BVVLS)是一种罕见的儿童神经退行性疾病。根据以往的报道,该病有多种主要症状和体征。由于核黄素补充剂治疗简单,因此在基因检测确认之前就对该病产生怀疑并开始治疗非常重要。我们报告了一名患有 BVVLS 的五岁女孩,她首先表现为听力问题。补充核黄素后,她的临床症状明显好转。
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Brown-Vialetto-Van Laere syndrome.

Brown-Vialetto-Van Laere syndrome (BVVLS) is a rare neurodegenerative disorder of childhood. According to the previous reports, it has various primary signs and symptoms. Because of the simple treatment with riboflavin supplementation, it is important to have suspicious to this disease and begin treatment even before genetic test confirm. We report a five-year-old girl with BVVLS that manifest with hearing problems, first. There was obvious improvement in her disease clinical signs with riboflavin supplementation treatment.

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