Paroxysmal tonic upgaze of childhood and childhood absence epilepsy

Paroxismal tonic upgaze of childhood (PTU) is a distinctive neuro-ophtalmological syndrome of unknown aetiology and pathogenesis that is characterized by episodes of sustained upward deviation of the eyes, often with incomplete downward saccades on attempted downgaze. Only few cases of PTU with co-existent epilepsy have been reported. We describe a case of female child affected by PTU who developed a childhood absence epilepsy (CAE) after 3 years from the beginning of disturbance. During hospitalization she presented repeated absence seizures; after the diagnosis of CAE, we started therapy with valproic acid (VPA). At the 6-month follow-up from the beginning of VPA therapy the child showed the disappearance of absence seizures with normalization of EEG, while no attenuation of PTU was observed. Our case suggests a possible association between PTU and epilepsy. © 2009 European Paediatric Neurology Society.