Tabarki Brahim, Alfadhel Majid, AlShahwan Saad, Hundallah Khaled, AlShafi Shatha, AlHashem Amel
Divisions of Pediatric Neurology, Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia.
Division of Genetics, Department of Pediatrics, King Abdulaziz Medical City, Riyadh, Saudi Arabia.
Eur J Paediatr Neurol. 2015 Sep;19(5):547-52. doi: 10.1016/j.ejpn.2015.05.008. Epub 2015 Jun 12.
To compare the combination of biotin plus thiamine to thiamine alone in treating patients with biotin-responsive basal ganglia disease in an open-label prospective, comparative study.
twenty patients with genetically proven biotin-responsive basal ganglia disease were enrolled, and received for at least 30 months a combination of biotin plus thiamine or thiamine alone. The outcome measures included duration of the crisis, number of recurrence/admissions, the last neurological examination, the severity of dystonia using the Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS), and the brain MRI findings during the crisis and after 30 months of follow-up.
Ten children with a mean age of 6 years(1/2) were recruited in the biotin plus thiamine group (group 1) and ten children (6 females and 4 males) with a mean age of 6 years and 2 months were recruited in the thiamine group (group 2). After 2 years of follow-up treatment, 6 of 20 children achieved complete remission, 10 had minimal sequelae in the form of mild dystonia and dysarthria (improvement of the BFMDRS, mean: 80%), and 4 had severe neurologic sequelae. All these 4 patients had delayed diagnosis and management. Regarding outcome measures, both groups have a similar outcome regarding the number of recurrences, the neurologic sequelae (mean BFMDS score between the groups, p = 0.84), and the brain MRI findings. The only difference was the duration of the acute crisis: group 1 had faster recovery (2 days), versus 3 days in group 2 (p = 0.005).
Our study suggests that over 30 months of treatment, the combination of biotin plus thiamine is not superior to thiamine alone in the treatment of biotin-responsive basal ganglia disease.
在一项开放标签的前瞻性对照研究中，比较生物素加硫胺素与单独使用硫胺素治疗生物素反应性基底节疾病患者的效果。
招募20例经基因检测证实为生物素反应性基底节疾病的患者，给予生物素加硫胺素联合治疗或单独使用硫胺素治疗至少30个月。观察指标包括危象持续时间、复发/入院次数、最后一次神经学检查、使用伯克-法恩-马斯登肌张力障碍评定量表（BFMDRS）评估的肌张力障碍严重程度，以及危象期间和随访30个月后的脑部MRI检查结果。
生物素加硫胺素组（第1组）招募了10名平均年龄为6岁（1/2）的儿童，硫胺素组（第2组）招募了10名平均年龄为6岁2个月的儿童（6名女性和4名男性）。经过2年的随访治疗，20名儿童中有6名完全缓解，10名有轻度肌张力障碍和构音障碍形式的轻微后遗症（BFMDRS改善，平均：80%），4名有严重神经后遗症。这4名患者均存在诊断和治疗延迟的情况。关于观察指标，两组在复发次数、神经后遗症（两组间平均BFMDS评分，p = 0.84）和脑部MRI检查结果方面的结局相似。唯一的差异是急性危象的持续时间：第1组恢复更快（2天），而第2组为3天（p = 0.005）。
我们的研究表明，在超过30个月的治疗中，生物素加硫胺素联合治疗在治疗生物素反应性基底节疾病方面并不优于单独使用硫胺素。
