Two apparently unrelated autosomal recessive disease phenotypes, biotin-responsive basal ganglia disease (BBGD; MIM 607483) [10,11] and Wernicke's-like encephalopathy (MIM 606152) [12], are associated with mutations of SLC19A3. We herein report on a study of four patients that presented with epileptic spasms in early infancy, severe psychomotor retardation, and characteristic brain MRI findings of progressive brain atrophy and bilateral thalami and basal ganglia lesions. This evidence concerns the gene SLC19A3 and Brain atrophy.