A case of paroxysmal tonic upgaze of childhood with ataxia.

Paroxysmal tonic upgaze of childhood is a rare, distinctive, childhood syndrome that may be associated with ataxia and sometimes strabismus or amblyopia. Neurological examination as well as metabolic studies, electroencephalogram and neuroradiological investigations are normal in these patients. Although it has been considered as an age-related, dopa-sensitive dystonia, the exact pathogenetic mechanism is still unknown. Aggravation of attacks by fatigue, intercurrent infection or vaccination, and possible corticomesencephalic dysmaturation may underlie this abnormality. We report on a sporadic case of paroxysmal tonic upgaze with ataxia in which there was prompt aggravation of symptoms with sleep without response to levodopa treatment. This case suggests a different underlying pathogenetic mechanism from dopaminergic pathways for this syndrome.