Abstract：
UNASSIGNED: Biotin-thiamine-responsive basal ganglia disease (BTBGD) is a rare, autosomal recessive neurometabolic disorder caused by mutations in the SLC19A3 gene and characterized by recurrent sub-acute episodes of encephalopathy. Patients with BTBGD have classical neuroimaging findings and a dramatic response to high doses of thiamine.
UNASSIGNED: To highlight the advantages of administering a higher dose of thiamine for patients with BTBGD who have not shown improvement with the standard recommended dosage.
UNASSIGNED: Herein, we report on two Saudi girls with classical clinical and radiological findings of BTBGD. Hallmark symptoms in these patients included an acute onset of ataxia, tremor, slurred speech, dystonia, and dysphagia. The initial routine laboratory workups were unremarkable. Brain magnetic resonance imaging revealed extensive hyperintense signals in the bilateral basal ganglia, which suggested the diagnosis of a BTBGD. Hence started empirically on biotin 10 mg/kg/day and thiamine 40 mg/kg/day, but there was no noticeable improvement. After increasing the thiamine to 75 mg/kg/day the patients started to improve significantly. Genetic testing was requested and came positive for the mutation of the SLC19A3 gene. After two months of initiating the management, thiamine was reduced to 30 mg/kg/day. Subsequent follow-ups showed complete improvement in their condition with no apparent long-term sequel or relapse.
UNASSIGNED: we conclude that administration of thiamine at a dosage of up to 40 mg/kg/day may not be sufficient in treating certain patients with BTBGD. Thus, considering a significantly higher dosage could potentially contribute to achieving remission.
UNASSIGNED: To highlight the advantages of administering a higher dose of thiamine for patients with BTBGD who have not shown improvement with the standard recommended dosage.
UNASSIGNED: Herein, we report on two Saudi girls with classical clinical and radiological findings of BTBGD. Hallmark symptoms in these patients included an acute onset of ataxia, tremor, slurred speech, dystonia, and dysphagia. The initial routine laboratory workups were unremarkable. Brain magnetic resonance imaging revealed extensive hyperintense signals in the bilateral basal ganglia, which suggested the diagnosis of a BTBGD. Hence started empirically on biotin 10 mg/kg/day and thiamine 40 mg/kg/day, but there was no noticeable improvement. After increasing the thiamine to 75 mg/kg/day the patients started to improve significantly. Genetic testing was requested and came positive for the mutation of the SLC19A3 gene. After two months of initiating the management, thiamine was reduced to 30 mg/kg/day. Subsequent follow-ups showed complete improvement in their condition with no apparent long-term sequel or relapse.
UNASSIGNED: we conclude that administration of thiamine at a dosage of up to 40 mg/kg/day may not be sufficient in treating certain patients with BTBGD. Thus, considering a significantly higher dosage could potentially contribute to achieving remission.
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基因突变引起的常染色体隐性遗传神经代谢紊乱，其特征是复发性亚急性脑病发作。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，我们报道了两名沙特女孩的经典临床和放射学发现的BTBGD。这些患者的标志性症状包括共济失调的急性发作，震颤,含糊不清的讲话，肌张力障碍,和吞咽困难.最初的常规实验室检查并不明显。脑磁共振成像显示双侧基底节广泛的高信号，这表明BTBGD的诊断。因此，在生物素10mg/kg/天和硫胺素40mg/kg/天的经验开始，但是没有明显的改善。在将硫胺素增加至75mg/kg/天之后,患者开始显著改善。要求进行遗传检测，并且SLC19A3基因突变呈阳性。启动管理两个月后，硫胺素减少到30mg/kg/天。随后的随访显示病情完全改善，没有明显的长期后遗症或复发。最后,我们得出的结论是，硫胺素的剂量高达40mg/kg/天可能不足以治疗某些BTBGD患者。因此，考虑显著更高的剂量可能有助于实现缓解.
