Biotin-Responsive Basal Ganglia Disease: Case Report and Review of the Literature

ArticleinNeuropediatrics 39(5):268-71 · November 2008with19 Reads
Impact Factor: 1.24 · DOI: 10.1055/s-0028-1128152 · Source: PubMed


    Biotin-responsive basal ganglia disease is a rare entity of which 10 cases have been reported in the literature. We report a case of biotin-responsive basal ganglia disease with similarities and differences compared to the previously reported cases by Ozand et al. Our case presented much earlier, was milder and responded better to lower doses of biotin, compared to the cases reported previously. Since our case showed differences with those in the literature, it might represent a new entity or a milder form of the same entity.