title: Biotin-responsive basal ganglia disease: a treatable and reversible neurological disorder of childhood.
abstract: Biotin-responsive basal ganglia disease is a rare childhood neurological disorder of uncertain etiology that is treatable if suspected and diagnosed. Only few cases have been reported earlier in literature. We report a case of biotin-responsive basal ganglia disease suspected clinically, corroborated by neuroimaging and a dramatic response to biotin therapy.
authors.affiliation: Department of Neurology, National Institute of Mental Health and Neurosciences, Bangalore, India. drpsbindu@yahoo.co.in
authors.forename: P S
authors.initials: PS
authors.lastname: Bindu
authors.forename: M L
authors.initials: ML
authors.lastname: Noone
authors.forename: A
authors.initials: A
authors.lastname: Nalini
authors.forename: Uday B
authors.initials: UB
authors.lastname: Muthane
authors.forename: Jerry M E
authors.initials: JM
authors.lastname: Kovoor
mesh_terms: D001480:Basal Ganglia Diseases / Q000175:diagnosis / Q000188:drug therapy* / Q000473:pathology; D001710:Biotin / Q000627:therapeutic use*; D001921:Brain / Q000473:pathology; D002648:Child; D003937:Diagnosis, Differential; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D008279:Magnetic Resonance Imaging; D020191:Myoclonic Epilepsies, Progressive / Q000175:diagnosis / Q000188:drug therapy* / Q000473:pathology; D014803:Vitamin B Complex / Q000627:therapeutic use*
chemical_list: D014803:Vitamin B Complex; D001710:Biotin