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Benign paroxysmal tonic upgaze of childhood
1Department of Neurology, Royal Alexandra Hospital for Children, Camperdown, Australia.
Insights
This study reports a new childhood ocular motor syndrome with upward eye deviation and down-beating saccades. The condition appears benign, improves over time, and may respond to levodopa therapy.
Area of Science:
- Ophthalmology
- Pediatric Neurology
- Neuroscience
Background:
- Ocular motor disorders in childhood require precise diagnosis for appropriate management.
- Understanding the spectrum of congenital and acquired eye movement abnormalities is crucial for pediatric neurology.
Observation:
- Four children presented with a novel syndrome characterized by sustained conjugate upward gaze.
- Associated symptoms included down-beating saccades, normal horizontal eye movements, and intermittent relief with sleep.
- Neurological examinations were largely normal, with mild ataxia in some cases, and investigations were unremarkable.
Findings:
- The syndrome demonstrated a benign clinical course with no deterioration over 15 years.
- Two patients showed eventual improvement, though with residual ocular motor deficits.
- One patient exhibited a positive response to levodopa therapy, suggesting a potential neurotransmitter-related etiology.
Implications:
- This case series describes a previously unrecognized ocular motor syndrome in children.
- The findings suggest a potential new diagnosis that may be responsive to levodopa.
- Further research into localized neurotransmitter deficiencies could elucidate the pathophysiology of this condition.
Abstract:
Four cases of an apparently benign ocular motor syndrome of childhood are reported. The features of the disorder are: (1) onset in early life; (2) periods of constant or variably sustained tonic conjugate upward deviation of the eyes; (3) down-beating saccades in attempted downgaze, which are difficult to sustain below the neutral positions; (4) apparently normal horizontal eye movements; (5) frequent relief by sleep; (6) otherwise normal neurological findings apart from mild ataxia, chronic in one boy and at times of illness in one of the other patients; (7) absence of deterioration during observation spanning up to 15 years; (8) eventual improvement but with some residual ocular movement problems in two cases; (9) normal metabolic, electroencephalographic, and neuroradiologic investigations; (10) normal brain examination findings in one patient who died accidentally; and (11) an apparently good response to levodopa therapy in one patient. To the authors' knowledge, this condition has not been described previously. It may be a new levodopa-responsive condition, secondary to a localized neurotransmitter deficiency.