Department of Neurology, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India.
Neurol India. 2022 Mar-Apr;70(2):733-736. doi: 10.4103/0028-3886.344659.
Biotin-thiamine-responsive basal ganglia disease (BTBGD) is an autosomal recessive disorder due to mutations in the SLC19A3-gene, typically seen in early childhood.
We report a 49-year-old lady presenting with rapidly progressive cognitive impairment, seizures, hypersomnolence, ataxia, and generalized dystonia of 3 weeks duration. The magnetic resonance imaging (MRI) of the brain revealed T2-hyperintensities in the basal ganglia, thalamus, cortical, subcortical regions with striatal necrosis suggestive of BTBGD that was confirmed by genetic analysis. She was treated with thiamine and biotin following which there was significant clinical and MRI improvement.
BTBGD requires a high index of suspicion in any patient presenting with unexplained rapidly progressive dementia. High doses of biotin and thiamine are the mainstay of the treatment to achieve a favorable outcome.
生物素-硫胺素反应性基底节疾病（BTBGD）是一种常染色体隐性遗传病，由 SLC19A3 基因突变引起，通常在儿童早期发病。
我们报告了一位 49 岁女性，表现为进行性认知障碍、癫痫发作、过度嗜睡、共济失调和全身性肌张力障碍，病程为 3 周。脑部磁共振成像（MRI）显示基底节、丘脑、皮质和皮质下区域存在 T2 高信号，纹状体坏死，提示为 BTBGD，基因分析证实了这一点。给予患者硫胺素和生物素治疗后，临床和 MRI 均有显著改善。
任何表现为不明原因快速进行性痴呆的患者，均应高度怀疑 BTBGD。大剂量生物素和硫胺素是治疗该病的主要方法，可获得良好的效果。
