Treatment of biotin-responsive basal ganglia disease: Open comparative study between the combination of biotin plus thiamine versus thiamine alone

• Published in: European journal of paediatric neurology 2015-09, Vol.19 (5), p.547-552
• Main Authors: Tabarki, Brahim, Alfadhel, Majid, AlShahwan, Saad, Hundallah, Khaled, AlShafi, Shatha, AlHashem, Amel
• Format: Article
• Language: English
• Subjects: Adolescent; Basal ganglia; Basal Ganglia Diseases - drug therapy; Biotin; Biotin - administration & dosage; Child; Child, Preschool; Female; Humans; Male; Neurology; Pediatrics; Prospective Studies; SLC19A3; Thiamine; Thiamine - administration & dosage
• ISSN: 1090-3798; 1532-2130
• DOI: 10.1016/j.ejpn.2015.05.008

Abstract Objective 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. Methods 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. Results Ten children with a mean age of 6 years1/2 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). Conclusion 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.