Teaching NeuroImages: MRI findings of biotin-responsive basal ganglia disease before and after treatment

An 11-year-old boy presented with new generalized tonic-clonic seizures and encephalopathy. MRI revealed bilateral striatum T2 hyperintensity and edema bilateral thalami and frontal lobe cortices T2 hyperintensity (figure 1). The patient was treated with biotin and riboflavin and diagnosis of biotin-responsive basal ganglia disease was confirmed by SLC19A3 gene analysis. Three years later, MRI examination showed resolution of these changes (figure 2).