Source:Ouvrier R, Billson F. Paroxysmal tonic upgaze of childhood – a review.
Brain Dev.

An oculomotor syndrome of childhood, originally termed “benign paroxysmal tonic upgaze of childhood,” 1 is reviewed by authors from the Children’s Hospital of Westmead, Sydney, Australia. Since the original description of 4 cases, a total of 49 cases have been reported. The 4 original cases included the following clinical features: onset before 1 year of age; conjugate upward deviation of the eyes with neck flexion; downbeating, compensatory eye jerks; 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 etiologic factors, including autosomal dominant or recessive genetic inheritance in 4 families, fetal valproate exposure in 3 cases, and cerebral anomalies in 5 cases (hypomyelination in 2, periventricular leukomalacia, Vein of Galen malformation, and pinealoma). About 40% of cases have learning or mild cognitive deficits, and 10% are moderately to severely retarded. Several patients have a history of febrile convulsions, and 2 have epilepsy but show no epileptic activity on EEG 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 the 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 anti-epileptic drugs, including acetazolamide and ACTH, are of no benefit.

Dr. Millichap has disclosed no financial relationships relevant to this commentary.

While the syndrome of paroxysmal tonic upgaze in infants is generally benign and self-limiting, several more serious disorders are characterized by paroxysmal or sustained upward gaze and must be excluded. These include epilepsy, which may be confirmed by a video-EEG demonstration of epileptiform discharges coincident with the paroxysmal tonic upgaze; retinal, optic nerve, optic tract, or cortical occipital disease with visual loss; and a space-occupying lesion involving the upper brainstem or third ventricle. An MRI is indicated, especially when tonic upgaze is sustained and complicated by ataxia. Oculogyric crises and tics are other unlikely explanations in this age group. Opsoclonus-myoclonus (dancing-eye syndrome)2 occurs in infants and young children and is manifested by irregular eye movements, myoclonic jerking, and ataxia. Acute or subacute in onset, the disorder may be viral in origin or associated with neuroblastoma. The eye movements in opsoclonus-myoclonus respond to treatment with ACTH, but the majority of patients have developmental delay and behavior and learning disabilities.

Paroxysmal ocular downward deviation3 also occurs in infancy, predominantly in preterm infants with spastic quadriplegia, mental retardation, and cortical visual loss. It differs from the setting sun sign or tonic downward deviation with eyelid retraction, which is sustained and associated with pressure on the orbit and midbrain in hyrdrocephalus.

Spasmus nutans is another benign condition occurring in this age group.4...

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