Hereditary progressive dystonia. An observation of the catecholamine metabolism during L-DOPA therapy in a 9-year old girl.:An Observation of the Catecholamine Metabolism during L-DOPA Therapy in a 9-Year Old Girl

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Hereditary progressive dystonia (HPD), first reported by Segawa et al. in 1971, represents a disease manifesting dystonic posture and movement with marked diurnal fluctuation. In this report, we described a sporadic case of HPD treated effectively with L-DOPA, and investigated the alterations of catecholamines (CA), serotonin, and their metabolites in plasma, urine and CSF.<BR>The patient was a 9 year-old girl. On admission, she had an abnormal posture and gait disturbance caused by dystonia. Her symptoms were mild in the early morning and worsened gradually toward the evening. We suspected HPD and examined the metabolic changes of CA before and after L-DOPA therapy.<BR>Prior to therapy, although the CSF dopamine (DA) level decreased to one third in the evening compared with that in the early morning, both were within normal values. The CSF HVA levels were significantly low both in the early morning and in the evening. After therapy, the CSF DA level increased remarkably. Similarly, the CSF HVA and DOPAC increased, but the CSF 5-HIAA decreased.<BR>It was concluded that the etiology of HPD and its diurnal fluctuation were not always attributable to the quantitative decrease of DA in the central nervous system.
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