Infantile Parkinsonism-dystonia and elevated dopamine metabolites in CSF.
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.
Assmann
B E
BE
Department of General Pediatrics, University Children's Hospital, Duesseldorf, Germany. Birgit.Assmann@uni-duesseldorf.de
Robinson
R O
RO
Surtees
R A H
RA
Bräutigam
C
C
Heales
S J R
SJ
Wevers
R A
RA
Zschocke
J
J
Hyland
K
K
Sharma
R
R
Hoffmann
G F
GF
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
D006897:Hydroxyindoleacetic Acid; D004298:Dopamine; D006719:Homovanillic Acid