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Paroxysmal tonic upgaze: physiopathological considerations in three additional cases
A Spalice1, P Parisi, P Iannetti
1Pediatric Department, University La Sapienza, Rome, Italy.
Insights
Paroxysmal tonic upgaze in children may indicate broader neurological issues, not just an eye movement disorder. Early detection and identifying mesencephalic gray matter involvement are crucial for understanding this condition.
Area of Science:
- Pediatric Neurology
- Ophthalmology
- Neuroscience
Background:
- Paroxysmal tonic upgaze (PTU) is often considered a benign childhood syndrome of abnormal eye movements.
- Previous reports noted associated neurological abnormalities in some children with PTU.
- Recent theories suggest PTU might be a heterogeneous syndrome or an early sign of wider neurological dysfunction.
Abstract:
Paroxysmal tonic upgaze of childhood has been described as a benign distinctive syndrome of abnormal ocular movement, with or without concomitant ataxia. After the first observation of four children, a further 29 patients have been reported with a wide spectrum of neurologic abnormalities such as ataxia, unsteady of gait, learning disabilities and mental retardation at follow-up. Electroencephalograms were normal in all the subjects and magnetic resonance imaging showed deficient myelination in only one patient. Recently it has been suggested that paroxysmal tonic upgaze could be a heterogeneous syndrome, ranging from a simply age-dependent manifestation to a clinical appearance of a variety of disorders affecting the corticomesencephalic loop of vertical eye movement. Moreover, it also could be an early sign of more widespread neurologic dysfunction. We describe three patients who presented paroxysmal tonic upgaze; in one, ataxia was present; in the second child, ataxia and language disorder also were observed; and in the third patient paroxysmal tonic upgaze was associated with loss of muscle tone (drop-attack-like events). On magnetic resonance imaging, a pinealoma compressing the dorsal mesencephalic region was detected. On the basis of our observations, we suggest that any insult with periaqueductal mesencephalic gray-matter involvement could be considered the basic condition for this peculiar clinical manifestation.