title: Progressive dystonia in a 12-year-old boy.
abstract: Pantothenate kinase-associated neurodegeneration (PKAN) (MIM 234200; Hallervorden-Spatz syndrome) is a degenerative, autosomal recessive disorder in childhood, currently without specific treatment. In contrast to variable clinical features, T2-weighted magnetic resonance images show a characteristic 'eye-of-the-tiger sign' in the globus pallidus due to excess iron deposition. Recently a defect in pantothenate kinase, the key regulatory enzyme in the synthesis of coenzyme A from pantothenate, has been identified as the cause of the disease. We report a 12-year-old boy with progressive rigidity, dystonia, impaired voluntary movement, dysarthria, and mental deterioration. Over 10 years the boy had been misdiagnosed with clumsiness, emotional and behavioural deficits, and attention deficit disorder, before neuroimaging was performed showing the characteristic 'eye-of-the-tiger sign'. Molecular analyses confirmed two mutations in the PANK2 gene [coding sequence of a gene that has homology to murine pantothenate kinase-1]. We conclude that in progressive childhood dystonia, PKAN should be considered and magnetic resonance imaging performed early. The newly described defect of the pantothenate kinase enzyme enables a novel therapeutic approach to be considered, based on the mutation analyses of the PANK2 gene, as well as the prenatal diagnosis of this disorder.
authors.affiliation: Department of Paediatrics and Paediatric Neurology, University of Essen, Germany. joerg.klepper@uni-essen.de
authors.forename: Jörg
authors.initials: J
authors.lastname: Klepper
authors.forename: Jörg
authors.initials: J
authors.lastname: Schaper
authors.forename: Gordana
authors.initials: G
authors.lastname: Raca
authors.forename: Jason
authors.initials: J
authors.lastname: Coryell
authors.forename: Soma
authors.initials: S
authors.lastname: Das
authors.forename: Susan J
authors.initials: SJ
authors.lastname: Hayflick
authors.forename: Thomas
authors.initials: T
authors.lastname: Voit
mesh_terms: D002648:Child; D004421:Dystonia / Q000209:etiology*; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D009154:Mutation; D006211:Pantothenate Kinase-Associated Neurodegeneration / Q000150:complications* / Q000235:genetics; D017853:Phosphotransferases (Alcohol Group Acceptor) / Q000235:genetics*
chemical_list: D017853:Phosphotransferases (Alcohol Group Acceptor); C023088:pantothenate kinase