Paroxysmal tonic upgaze: A reappraisal of outcome

Abstract

Paroxysmal tonic upgaze (PTU) of childhood is a distinctive neuro-ophthalmological syndrome of unknown etiology and pathogenesis that is characterized by episodes of sustained upward deviation of the eyes, often with incomplete downward saccades on attempted downgaze. It is generally regarded as having a benign outcome. We observed 16 children with PTU, from 10 months to 11 years from onset (mean, 5.4 years), to study the natural history and possible etiology. Five cases were from two unrelated families. Onset of PTU occurred either during or after an intercurrent infection or vaccination in 5 children. No antecedent was identifiable in the rest. PTU had completely resolved in 10 children (62%) (mean age at offset, 2.5 years), whereas 2 children intermittently manifest a modified form of the disorder. At follow-up, 11 children (69%) had developmental delay, intellectual disability, or language delay and 9 (56%) had ocular motility problems other than PTU. Only 3 children (19%) had normal development and neurological findings. PTU is a heterogeneous syndrome with respect to associations and outcome and may simply be an age-dependent manifestation of a variety of disorders affecting corticomesencephalic control of vertical eye movement. This disorder may be an early sign of more widespread neurological dysfunction.

Syncopes and other paroxysmal events

“…Paroxysmal tonic up-gaze now seems a heterogeneous condition (Caraballo et al, 2009) that does not always have a favorable outcome (Hayman et al, 1998) and, unlike the three conditions previously outlined, may include "organic" conditions such as channelopathies and dopa-responsive disorders.…”

Neonatal Movement Disorders

“…However, most affected children appear to have a wide variety of neurologic and oculomotor problems on long-term follow-up. (25) We have noted a few normal young infants who have had upgaze movements that were much briefer than those seen in paroxysmal tonic upgaze (lasting only a few seconds). These movements appear to represent an uncoupling of the normal upgaze response (Bell phenomenon) and eyelid closure that occur when the infants try to close the eyes.…”

“…(26)(27) The onset is usually from 4 to 10 months, although rarely onset as early as 1 week of age has been reported. (25) This is a heterogeneous disorder of unknown cause, but the basic defect is believed to be in the corticomesencephalic control of vertical eye movement. Generally considered a benign disorder, the condition improves or resolves by 2.5 years.…”

“…(25) The upgaze may be sustained for several hours, and the infant's eyes may be in that position for most of the waking hours. Video-EEG studies have shown these movements to be nonepileptic.…”

Hypomyelinating leukoencephalopathy with paroxysmal tonic upgaze and absence of psychomotor development

“…Most cases are either due to benign paroxysmal tonic upward gaze, described by Ouvrier and Billson3 in 1988, or due to neurotransmitter defects 4. The coexistence of paroxysmal tonic upward gaze and white matter abnormalities or immature myelination has recently been reported 5…”