Paroxysmal tonic upgaze: Physiopathological considerations in three additional cases

Paroxysmal tonic upgaze of childhood has been described as a benign distinc tive syndrome of abnormal ocular movement, with or:without concomitant atax ia. After the first observation of four children, a further 29 patients hav e been reported with a wide spectrum of neurologic abnormalities such as at axia, unsteady of gait, learning disabilities and mental retardation at fol low-up. Electroencephalograms were normal in all the subjects and magnetic resonance imaging showed deficient myelination in only one patient. Recentl y it has been suggested that paroxysmal tonic upgaze could be a heterogeneo us syndrome, ranging from a simply age-dependent manifestation to a clinica l appearance of a variety of disorders affecting the corticomesencephalic l oop of vertical eye movement, Moreover, it also could be an early sign of m ore widespread neurologic dysfunction. We describe three patients who prese nted paroxysmal tonic upgaze; in one, ataxia was present; in the second chi ld, ata;da and language disorder also-were observed; and in the third patie nt paroxysmal tonic upgaze was associated with loss of muscle tone (drop-at tack-like events). On magnetic resonance imaging, a pinealoma compressing t he dorsal mesencephalic region was detected. On the basis of our observatio ns, we suggest that any insult with periaqueductal mesencephalic gray-matte r involvement could be considered the basic condition for this peculiar cli nical manifestation.