title: Infantile Parkinsonism-dystonia and elevated dopamine metabolites in CSF.
abstract: Two girls and one boy are described, with severe infantile parkinsonism-dystonia. This syndrome is usually caused by endogenous dopamine deficiency but in these patients was associated with elevated dopamine metabolites in CSF and an unusual eye movement disorder: ocular flutter together with saccade initiation failure. Pyramidal tract signs also emerged in the course of the disease in two patients. This combination of symptoms and biochemical findings suggests a unique pathogenic mechanism.
authors.affiliation: Department of General Pediatrics, University Children's Hospital, Duesseldorf, Germany. Birgit.Assmann@uni-duesseldorf.de
authors.forename: B E
authors.initials: BE
authors.lastname: Assmann
authors.forename: R O
authors.initials: RO
authors.lastname: Robinson
authors.forename: R A H
authors.initials: RA
authors.lastname: Surtees
authors.forename: C
authors.initials: C
authors.lastname: Bräutigam
authors.forename: S J R
authors.initials: SJ
authors.lastname: Heales
authors.forename: R A
authors.initials: RA
authors.lastname: Wevers
authors.forename: J
authors.initials: J
authors.lastname: Zschocke
authors.forename: K
authors.initials: K
authors.lastname: Hyland
authors.forename: R
authors.initials: R
authors.lastname: Sharma
authors.forename: G F
authors.initials: GF
authors.lastname: Hoffmann
mesh_terms: D004298:Dopamine / Q000134:cerebrospinal fluid* / Q000652:urine; D020821:Dystonic Disorders / Q000134:cerebrospinal fluid* / Q000000981:diagnostic imaging; D005260:Female; D006719:Homovanillic Acid / Q000134:cerebrospinal fluid* / Q000652:urine; D006801:Humans; D006897:Hydroxyindoleacetic Acid / Q000134:cerebrospinal fluid; D007231:Infant, Newborn; D008297:Male; D015835:Ocular Motility Disorders / Q000134:cerebrospinal fluid* / Q000000981:diagnostic imaging; D010300:Parkinson Disease / Q000134:cerebrospinal fluid* / Q000000981:diagnostic imaging; D012021:Reflex, Abnormal; D012438:Saccades; D013577:Syndrome; D015899:Tomography, Emission-Computed, Single-Photon
chemical_list: D006897:Hydroxyindoleacetic Acid; D004298:Dopamine; D006719:Homovanillic Acid