A case of paroxysmal tonic upward gaze with neck flexion in a 14-month-old boy is reported from a Department of Neurology in Izmir, Turkey. The paroxysms began at age 11 months, they recurred several times each day, and episodes lasted 1 or 2 hours. Downbeat nystagmus was elicited on attempted downward gaze. Horizontal eye movements were normal during an attack. Episodes were associated with a wide-based ataxic gait. Video EEG during an episode was normal, and EEG recorded between episodes was also normal. Tests including brain MRI, CSF, amino acids, organic acids, serum lactate, and thyroid were unremarkable. Levodopa treatment was without benefit. Six months later, the episodes ceased spontaneously and showed no recurrence after 1-year-follow-up. The ocular and neurologic examinations were normal. [1]

COMMENT. First described in 1988 [2], the authors reviewed reported cases in the literature in 2005 and suggested the deletion of “benign” since some cases are more persistent and are exacerbated by fatigue, immunization, and febrile illness. The disorder is idiopathic or symptomatic of underlying disease. The pathophysiology is unclear but the tectum in upper dorsal brainstem, the anatomic site of vertical eye movements, is probably involved. Lesions affecting the brainstem, epilepsy, oculogyric crises, and retinal disease are included in the differential diagnosis. Association with genetic disorders such as Beckwith-Wiedemann syndrome (macrosomia, macroglossia) has been reported. The present case report is an example of an idiopathic, benign form of paroxysmal tonic upward gaze.