Biotin-thiamine-responsive basal ganglia disease is a rare, autosomal recessive, treatable, neurometabolic disorder associated with biallelic pathogenic variations in the SLC19A3 gene. The condition may present as an early-childhood encephalopathy, an early-infantile lethal encephalopathy with lactic acidosis, with or without infantile spasms, or a late-onset Wernicke-like encephalopathy. The key radiological features are bilateral, symmetrical lesions in the caudate, putamen, and medial thalamus, with variable extension into the brain stem, cerebral cortex, and cerebellum. Treatment is life long and includes initiation of high dose biotin and thiamine. Genetic testing confirms the diagnosis. The prognosis depends on the time from diagnosis to the time of vitamin supplementation. The genotype-phenotype correlations are not clear yet, but the early infantile phenotype portends a poorer prognosis. We provide a brief overview of the disorder and emphasize the initiation of high-dose biotin and thiamine in infants and children with unexplained encephalopathy and basal ganglia involvement.


中文翻译：

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儿童生物素-硫胺素反应性基底节疾病：可治疗的神经代谢疾病


生物素-硫胺素反应性基底神经节疾病是一种罕见的常染色体隐性遗传，可治疗的神经代谢疾病，与SLC19A3中的双等位基因致病性变异相关基因。该病可能表现为儿童早期脑病，婴儿早期致死性脑病，乳酸性酸中毒，伴或不伴婴儿痉挛或迟发性韦尼克样脑病。关键的放射学特征是在尾状，壳状核和内侧丘脑中出现双侧对称性病变，并延伸到脑干，大脑皮层和小脑。治疗是终生的，包括开始使用大剂量的生物素和硫胺素。基因检测证实了诊断。预后取决于从诊断到补充维生素的时间。基因型与表型的相关性尚不清楚，但早期婴儿表型预后较差。