Paroxysmal Tonic Upgaze, Benign Childhood, With Ataxia

Clinical Features

Ouvrier and Billson (1988), followed by Ahn et al. (1989), Deonna et al. (1990) and Echenne and Rivier (1992), described a 'new' paroxysmal disorder of childhood, the main features of which are bouts of tonic upward deviation of the eyes associated with ataxia. Long-term outcome is favorable, with no apparent neurologic sequelae. None of the reported patients had an underlying CNS lesion that could have caused the disease. The brain of one of the children who died accidentally was normal on examination (Ouvrier and Billson, 1988).

Campistol et al. (1993) suggested that this is a familial disorder. They described a father-son and a mother-son combination; in a third family, the mother of the male proband had generalized epilepsy beginning at the age of 18 years. Campistol et al. (1993) pictured a 12-month-old infant during an episode of tonic upgaze accompanied by compensatory forward bending of the neck. The patients showed gross motor clumsiness and delayed acquisition of independent walking. Campistol et al. (1993) found that levodopa was beneficial.

Inheritance

Campistol et al. (1993) suggested that benign paroxysmal tonic upgaze of childhood with ataxia may be an autosomal dominant disorder.