Biotin-Thiamine-Responsive Basal Ganglion Disease: Outcome After Use of High in Comparison to Low Dose of Biotin and Thiamine
Abstract:
Background: Biotin-thiamine-responsive basal ganglion (BTBGD) is an autosomal recessive neurometabolic disorder associated with pathogenic variants in SLC19A3 gene. The clinical presentation includes subacute encephalopathy (e.g. confusion, dysphagia, dysarthria, and seizures), which respond very well to early treatment with thiamine and biotin. In our case, patient presented with acute encephalopathy, ataxia, dystonia, dysarthria later quadriparesis. The baseline MRI Brain demonstrated abnormal signal intensity in cerebral cortex both in supra and infratentorial areas and basal ganglion. Once diagnosis of biotin-thiamine-responsive basal ganglion was made, patient was started on high doses of oral thiamine and biotin. Genetic Testing demonstrated pathogenic variant in SLC19A3 gene. After start of treatment with oral biotin and thiamine patient started improvement in clinical course within days. After improvement patient was discharged home and advised to follow up in pediatric neurology clinic. In follow up patient showed both clinical and radiological improvement. Family screening was done showed both parents are carriers and one sister has similar mutation but all of them were asymptomatic.
Conclusion: BTBGD is an extremely rare inherited condition and a challenging diagnosis to make due to nonspecific clinical presentation of encephalopathy and seizures. Early treatment and diagnosis affect the outcome of disease.
