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.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Dopamine / cerebrospinal fluid*
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Dopamine / urine
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Dystonic Disorders / cerebrospinal fluid*
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Dystonic Disorders / diagnostic imaging
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Female
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Homovanillic Acid / cerebrospinal fluid*
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Homovanillic Acid / urine
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Humans
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Hydroxyindoleacetic Acid / cerebrospinal fluid
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Infant, Newborn
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Male
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Ocular Motility Disorders / cerebrospinal fluid*
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Ocular Motility Disorders / diagnostic imaging
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Parkinson Disease / cerebrospinal fluid*
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Parkinson Disease / diagnostic imaging
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Reflex, Abnormal
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Saccades
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Syndrome
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Tomography, Emission-Computed, Single-Photon
Substances
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Hydroxyindoleacetic Acid
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Dopamine
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Homovanillic Acid