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.
Wolf B.Disorders of biotin metabolism. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease. 7th ed. New York, NY: McGraw-Hill ; 1995: 3151-3177.
2.
Wolf B., Feldman GLThe biotin dependent carboxylase deficiencies (Review). Am J Hum Genet. 1982;34:699-716.
3.
Wolf B., Heard GS, Weissbecker KA, McVoy JR, Grier RE, LEshner RTBiotinidase deficiency: initial clinical features and rapid diagnosis. Ann Neurol. 1985;18:614-617.
4.
Haas RH, Marsden DL, Capistrano-Estrada S., et al. Acute basal ganglia infarction in propionic academia. J Child Neurol. 1995;10:18-22.
5.
Ozand PT, Gascon GG, Essa MA, et al. Biotin-responsive basal ganglia disease: a novel entity. Brain. 1998;121:1267-1279.
6.
Spector R., Mock D.Biotin transport through the blood-brain barrier. J Nerochem . 1987;48:400-404.
7.
Bousounis DP , Camfield PR, Wolf B.Reversal of brain atrophy with biotin treatment in biotinidase deficiency. Neuropediatrics. 1993;24:214-217.
8.
Brismar J., Ozand PTCT and MR of the brain in the diagnosis of organic acidemias. Brain Dev. 1994;16:104-124.
