A child with intermittent upward deviation of the eyes is reported from the Neuropediatric Unit CHUV, Lausanne, Switzerland. The boy was normal until nine months of age when brief intermittent upward eye deviation was noted and one month later these movements occurred for very long periods. At 14 months, vertical jerking of the eyes was associated with difficulty in downward gaze. He walked late at 16 months and fell often. When first examined at 21 months, the intermittent tonic upgaze lasted hours or days and was associated with a compensatory posture of the head, tilted with chin down. A downbeat nystagmus occurred when attempting to look down. His gait was wide-based and unsteady. The EEG, CT scan, NMR, and CSF exams were normal. The symptoms fluctuated and increased with fatigue and intercurrent illness. They were less marked in the morning on awakening from sleep. Treatment with acetazolamide was without effect. When last seen at 39 months of age the abnormal eye movements and head posture had almost resolved and the ataxia was mild. Since age 18 months he had had episodes of cyanosis, loss of contact, hypotonia, and falling, sometimes triggered by an emotional situation and resembling breathholding spells. [1]

COMMENT. This syndrome was first described by Ouvrier RA and Billson MD [2]. These authors reported four cases. Ahn and Hoyt reported three infants with a similar syndrome (See Ped Neur Briefs Jan 1989). The eye movements are not seizures and improvement following levodopa therapy in one child suggests a closer analogy with dopa-sensitive dystonia.