This oculomotor syndrome of childhood, originally termed “benign paroxysmal tonic upgaze of childhood” (Ouvrier and Billson, 1988) is reviewed from the Children’s Hospital of Westmead, Sydney, NSW, Australia. Since the original description of 4 cases, a total of 49 cases have been reported. The clinical features listed in the original cases were as follows: onset before 1 year of age; conjugate upward deviation of the eyes, with neck flexion; downbeating compensatory saccades; normal horizontal eye movements; fluctuation of symptoms during the daytime and relief in sleep; exacerbation during febrile illness; intermittent or persistent ataxia; otherwise normal neurologic exam; no deterioration and eventual improvement with long-term follow-up; normal EEG, CT, and CSF neurotransmitters. Some subsequent reports have described etiological factors, including: genetic, autosomal dominant or recessive inheritance in 4 families; fetal valproate exposure in 3 cases; and cerebral abnormalities in 5 (hypomyelination (2 cases), periventricular leukomalacia, Vein of Galen malformation, pinealoma). About 40% have learning or mild cognitive deficits, and 10% are moderately to severely retarded. Several have a history of febrile convulsions, 2 had epilepsy, but the EEG shows no epileptic activity during the tonic upgaze. Apart from the few cases with structural pathology involving the upper brainstem, a localization-related lesion is not evident. About 50% of cases have a favorable outcome, 25% have residual ataxia, and 25% may have strabismus or nystagmus as a sequel. Treatment with L-dopa is sometimes successful, but AEDs, including acetazolamide and ACTH, are of no benefit. [1]

COMMENT. A tonic upgaze may be caused by a space-occupying lesion involving the brainstem, and an MRI is indicated in these infants, especially when ataxic.