Abstract

Isolated periodic dystonia in the arms and legs was the first manifestation in three siblings with Leigh's syndrome. The symptomatology is identical and progressive in both brothers, whereas the progressive, dysto nie movements of the 14-year old sister have disappeared completely for the last three years. CSF lactate was increased in both brothers. All siblings showed MRI abnormalities of the globus pallidus with different pronounciation. Since the therapeutic use of α-liponic-acid the recurrent encephalopathic episodes disappeared in both boys without affecting the dystonic movements. The girl is asymptomatic without any therapy. Leigh's syndrome is a differential diagnosis in children with a first manifestation of periodic dystonic movements.

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