布朗-维阿莱托-范莱尔综合征：对核黄素产生显著反应的病例报告
Brown-Vialetto-Van Laere Syndrome: Case Report of Dramatic Response to Riboflavin.
作者信息
Heidari Morteza, Ghahvechi Akbari Masood, ShahbodaghKhan Golazin, Garshasbi Masoud, Shervin Badv Reza, Yousefimanesh Hossein
机构信息
Department of Pediatrics, Division of Pediatric Neurology, Children's Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran.
Myelin Disorders Clinic, Pediatric Neurology Division, Children's Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran.
出版信息
Iran J Child Neurol. 2025 Jun 25;19(3):83-86. doi: 10.22037/ijcn.v19i3.46308. eCollection 2025 Summer.
Brown-Vialetto-Van Laere syndrome (BVVL) is a rare neurodegenerative disorder caused by riboflavin transporter genes SLC52A2 and SLC52A3 variants. It manifests as a combination of cranial nerve palsies and sensorineural hearing loss. This study presents the case of a 5.5-year-old boy with progressive swallowing difficulties, ptosis, severe hearing loss, and a progressive speech disorder. Remarkably, he showed a significant response to high-dose riboflavin supplementation. Subsequent genetic testing confirmed the diagnosis. Whole exome sequencing identified a homozygous missense variant, [c.239G>A; (p.Gly80Asp)], in the SLC52A3, consistent with BVVL 1. It is essential to remember that BVVL is a set of sensorineural hearing loss and a variety of cranial nerve palsies. Riboflavin should be started as soon as possible because it has a crucial role in neuronal preservation and even reverses the disease.
布朗-维阿莱托-范莱尔综合征（Brown-Vialetto-Van Laere syndrome，BVVL）是一种由核黄素转运蛋白基因SLC52A2和SLC52A3变异引起的罕见神经退行性疾病。其表现为颅神经麻痹和感音神经性听力损失的组合。本研究报告了一名5.5岁男孩的病例，该男孩有进行性吞咽困难、上睑下垂、严重听力损失和进行性言语障碍。值得注意的是，他对高剂量核黄素补充治疗有显著反应。随后的基因检测确诊了该疾病。全外显子测序在SLC52A3中鉴定出一个纯合错义变异，[c.239G>A；（p.Gly80Asp）]，符合BVVL 1型。必须记住，BVVL是一组感音神经性听力损失和各种颅神经麻痹。应尽快开始使用核黄素，因为它在神经元保护中起关键作用，甚至可使疾病逆转。
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