Brown-Vialetto-Van Laere syndrome is a rare, autosomal, recessive neurological condition caused by variants in the riboflavin transporter genes SLC52A2 and SLC52A3. Here, we report on three cases. Case 1 was a 35-year-old woman from a consanguineous family who presented with progressive deafness, subacute multiple cranial nerve impairments (III, VII, IX, XII), and MRI abnormalities (including as hypersignal from the cranial nerves). The patient was homozygous for a novel SLC52A3variant. Case 2 was the woman's brother, who presented similar symptoms. Case 3 was an 18-year-old woman experiencing progressive hearing loss, bilateral steppage gait and a cranial nerves impairment (VII and XII). MRI revealed hypersignal in the root nerves and cauda equina. A novel heterozygous variant in SLC52A3 was identified. A subacute history of polyradiculoneuropathy along with progressive deafness, cranial nerve impairment, and MRI abnormalities should raise suspicion for Brown-Vialetto-Van Laere syndrome.

Brown-Vialetto-Van Laere 综合征是一种罕见的常染色体隐性神经系统疾病，由核黄素转运蛋白基因SLC52A2和SLC52A3的变异引起。在这里，我们报告三个案例。病例 1 是一名来自近亲家庭的 35 岁女性，她出现进行性耳聋、亚急性多发性颅神经损伤（III、VII、IX、XII）和 MRI 异常（包括来自颅神经的高信号）。该患者是新型SLC52A3的纯合子变体。病例 2 是该妇女的兄弟，也有类似症状。病例 3 是一名 18 岁女性，患有进行性听力损失、双侧跨步步态和颅神经损伤（VII 和 XII）。MRI 显示根神经和马尾神经的高信号。鉴定了SLC52A3中的一种新型杂合变体。多发性神经根神经病的亚急性病史以及进行性耳聋、颅神经损伤和 MRI 异常应引起对 Brown-Vialetto-Van Laere 综合征的怀疑。