Tonic upgaze syndrome

(Ouvrier-Billson syndrome)

Very rare: < 1/106. Benign paroxysmal tonic deviation of the gaze characterized by episodes of conjugated and sustained deviation of the eyes upwards, as well as rhythmic jerks downwards when the patient tries to look downwards (horizontal eye movements are preserved). It is sometimes accompanied by ataxia (unstable gait, balance disorder, movement coordination disorder) in apparently healthy patients. Bilateral vertical nystagmus is associated.

Sometimes: hyperthermic convulsions. Rarely: epilepsy.

MRI is usually normal but sometimes there is a cerebral abnormality (hypomyelination, pinealoma, Galen's vein abnormality) or an history of exposure to valproate in utero.

Prognosis:

in 50 % of cases, the signs disappear spontaneously one to two years after their onset,
in 25 % of cases, persistence of residual ataxia
in 25 % of cases, persistence of strabismus or nystagmus.

Anesthetic implications:

none except in case of associated epilepsy

References :

- Ouvrier R, Billson F.
Paroxysmal tonic upgaze of childhood--a review.
Brain Dev 2005 ; 27: 185-8.

- Rouveyrol F, Stephan JL.
Élévation paroxystique des globes oculaires du nourrisson : à propos de 2 observations.
Arch Pédiatr 2003; 10 : 527-9.

Updated: April 2022