Biotin-responsive basal ganglia disease: a case diagnosed by whole exome sequencing

Using whole exome sequencing, we confirmed a diagnosis of biotin-responsive basal ganglia disease (bbgd) accompanied by possible kawasaki disease. bbgd is an autosomal-recessive disease arising from a mutation of the slc19a3 gene encoding the human thiamine transporter 2 protein, and usually manifests as subacute to acute encephalopathy. in this case, compound heterozygous mutations of slc19a3, including a de novo mutation in one allele, was the cause of disease. although a large number of genetic neural diseases have no efficient therapy, there are several treatable genetic diseases, including bbgd. however, to achieve better outcome and accurate diagnosis, therapeutic analysis and examination for disease confirmation should be done simultaneously. we encountered a case of possible kawasaki disease, which had progressed to bbgd caused by an extremely rare genetic condition. although the prevalence of bbgd is low, early recognition of this disease is important because effective improvement can be achieved by early biotin and thiamine supplementation.