[Hereditary progressive levodopa sensible: Segawa's syndrome].
BACKGROUND
Hereditary progressive childhood dystonia with diurnal fluctuation of symptoms, belongs to the dopa responsive dystonias. It is dominantly inherited with variable penetrance, with deficiency in the cyclohydrolase I GTP gene.


OBJECTIVE
Levodopa treatment is useful and diagnosis may be done on fluctuant dystonia in the childhood.


METHODS
. We present four patients, one boy and three girls (two sisters) between 7 and 17 years of age. Neurological symptoms appears at 5, 15, 2.5 and 4 years of age respectively, with incoordination of movements ataxo paretic gait and postural dystonia. Symptoms were progressive with diurnal fluctuation. All laboratory test and image diagnosis were normal. Levodopa response, with lower doses (30 60 mg/day), were excellent. The four patients respectively are asymptomatic after 8, 4, 6 and 5 years of treatment.


CONCLUSIONS
Hereditary progressive dystonia, with diurnal fluctuations is dopa responsive at lower doses, with neurological normalization and without side effects during a prolongated treatment.
División de Neurología, Hospital de Niños R. Gutiérrez, Buenos Aires, Argentina. grippo@fibertel.com.ar
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Grippo
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La Fuente
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Corral
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Grippo
D000293:Adolescent; D000978:Antiparkinson Agents / Q000627:therapeutic use*; D002648:Child; D002675:Child, Preschool; D002940:Circadian Rhythm; D004421:Dystonia / Q000175:diagnosis / Q000188:drug therapy*; D005260:Female; D006801:Humans; D007980:Levodopa / Q000627:therapeutic use*; D008297:Male
D000978:Antiparkinson Agents; D007980:Levodopa