PDF(Pubmed)
Abstract：
Biotin-thiamine-responsive basal ganglia disease (BTBGD) is a rare, inherited neurometabolic disorder caused by mutations in the SLC19A3 gene and characterized by recurrent sub-acute episodes of encephalopathy that are often triggered by infections. Patients with BTBGD have classical neuroimaging findings and a dramatic response to high doses of thiamine. Herein, we report a 2 and a half-year-old Saudi girl presented with an acute onset of ataxia, slurred speech, and dysphagia, which was preceded by a history of accidental ingestion of around 20 mL of ethyl alcohol that is used in formulating perfumes 1 day earlier. Her older brother had a similar clinical presentation and was diagnosed with BTBGD. The patient was fully alert and spoke in full sentences with dysarthria. She was unable to walk unassisted. Investigation revealed a positive toxicity test for ethyl alcohol (10 mg/dL), and brain magnetic resonance imaging showed basal ganglia changes consistent with BTBGD. The dramatic response to high doses of thiamine suggested SLC19A3 as a strong candidate gene, and Sanger sequencing revealed a homozygous (NM_025243.4): c.1264A>G (p.Thr422Ala) mutation. Patients with BTBGD should be cautious and aware of ethyl alcohol products, which can lead to a BTBGD crisis. The administration of a high dose of thiamin may be required in patients who have not responded to the recommended dose. Further clinical research is required to determine the optimal doses.
摘要：
生物素-硫胺素反应性基底神经节病（BTBGD）是一种罕见的，由SLC19A3基因突变引起的遗传性神经代谢紊乱，其特征是经常由感染引发的脑病的亚急性复发。BTBGD患者具有经典的神经影像学表现和对高剂量硫胺素的显着反应。在这里，我们报告了一个2岁半的沙特女孩出现了共济失调的急性发作，含糊不清的讲话，和吞咽困难,在此之前，有1天前意外摄入约20mL乙醇用于配制香水的历史。她的哥哥有类似的临床表现，被诊断为BTBGD。患者完全警觉，并以构音障碍说话。她无法无人行走。调查显示乙醇(10毫克/分升)毒性试验呈阳性，脑磁共振成像显示基底神经节改变与BTBGD一致。对高剂量硫胺素的戏剧性反应表明SLC19A3是一个强大的候选基因，和Sanger测序显示纯合（NM_025243.4）：c.1264A>G（p。Thr422Ala）突变。BTBGD患者应谨慎并意识到乙醇产品，这可能导致BTBGD危机。对推荐剂量没有反应的患者可能需要施用高剂量的硫胺素。需要进一步的临床研究来确定最佳剂量。
