A case report of biotin-thiamine-responsive basal ganglia disease / 中华神经科杂志

ABSTRACT

Biotin-thiamine-responsive basal ganglia disease is a rare treatable autosomal recessive neurometabolic disorder caused by mutations in SLC19A3 gene, encoding a transporter of thiamine across the plasma membrane. In the present study, a 29-year-old male patient with epilepsy as the first symptom, accompanied by hypokinesia, extraocular muscle paralysis and delayed dystonia was reported. The brain magnetic resonance imaging revealed abnormal symmetrical signals of bilateral caudate nucleus and lenticular nucleus. The patient was diagnosed as biotin-thiamine-responsive basal ganglia disease by gene detection. After treatment with biotin and thiamine, the symptoms were relieved and the brain lesions subsided.