Riboflavin transporter deficiency (RTD) was recently characterized as a cause of genetic recessive childhood‐onset motor neuron disease (MND) with hearing loss, formerly described as Brown‐Vialetto‐Van‐Lear syndrome. We describe a 18‐year‐old woman with probable RTD mimicking juvenile Amyotrophic Lateral Sclerosis (ALS) who presented with an inaugural respiratory failure and moderate distal four limbs weakness. Only one heterozygous SLC52A3 mutation was detected, but presence of a sub‐clinical auditory neuropathy and dramatic improvement under high dose riboflavin argued for a RTD. As RTD probably has a larger phenotypic spectrum than expected, a high dose riboflavin trial should be discussed in young‐onset MND.

中文翻译：

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高剂量核黄素治疗后，青少年 ALS 样表型显着改善。

核黄素转运蛋白缺乏症 (RTD) 最近被定性为遗传性隐性儿童发病运动神经元疾病 (MND) 并伴有听力损失的原因，以前称为 Brown-Vialetto-Van-Lear 综合征。我们描述了一名 18 岁的女性，她可能患有类似于青少年肌萎缩侧索硬化 (ALS) 的 RTD，她就诊时出现首次呼吸衰竭和四肢远端中度无力。仅检测到一个杂合 SLC52A3 突变，但亚临床听觉神经病变的存在和高剂量核黄素作用下的显着改善支持 RTD。由于 RTD 可能具有比预期更大的表型谱，因此应在年轻发病的 MND 中讨论高剂量核黄素试验。