[Hereditary progressive levodopa sensible: Segawa's syndrome].

INTRODUCTION

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.

CASE REPORTS

. 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.