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A case of paroxysmal tonic upgaze of childhood with ataxia.

R A Apak1, M Topçu

  • 1Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.

European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|August 26, 1999
PubMed
Summary

Paroxysmal tonic upgaze of childhood is a rare syndrome. This case suggests a non-dopaminergic mechanism, differing from typical dopa-sensitive dystonia.

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Area of Science:

  • Neurology
  • Ophthalmology
  • Pediatrics

Background:

  • Paroxysmal tonic upgaze of childhood is a rare syndrome characterized by involuntary upward eye movements.
  • It is often associated with ataxia and may present with strabismus or amblyopia.
  • Standard neurological, metabolic, EEG, and neuroradiological investigations are typically normal.

Observation:

  • This report details a sporadic case of paroxysmal tonic upgaze with ataxia.
  • Symptoms significantly worsened with sleep in this patient.
  • The patient did not respond to levodopa treatment.

Findings:

  • The observed symptom exacerbation with sleep and lack of response to levodopa challenge the notion of this syndrome being solely dopa-sensitive dystonia.
  • This suggests alternative pathogenetic mechanisms may be involved.

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Implications:

  • This case highlights the heterogeneity within paroxysmal tonic upgaze syndromes.
  • Further research into non-dopaminergic pathways is warranted for understanding and potentially treating this condition.
  • Consideration of sleep-related symptom triggers is important in clinical evaluation.