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Paroxysmal tonic upward gaze complicating Angelman syndrome

Shinobu Fukumura1, Toshihide Watanabe1, Rumiko Takayama1

  • 1Department of Child Neurology, Hokkaido Medical Center for Child Health and Rehabilitation, Sapporo, Japan; Department of Pediatrics, School of Medicine, Sapporo Medical University, Sapporo, Japan.

Pediatric Neurology
|December 3, 2014
PubMed

Insights

This study reports the first case of paroxysmal tonic upward gaze in a child with Angelman syndrome. Researchers suggest dopaminergic neuron abnormalities may link these conditions.

Area of Science:

  • Pediatric Neurology
  • Neurogenetics
  • Ophthalmology

Background:

  • Paroxysmal tonic upward gaze is a rare childhood oculomotor syndrome with unknown pathogenesis and varied causes.
  • Angelman syndrome is a genetic disorder characterized by developmental delay, ataxia, and epilepsy.

Observation:

  • A 2-year-old girl with Angelman syndrome developed paroxysmal tonic upward gaze at 9 months of age.
  • The patient exhibited developmental delay, blond hair, jerky movements, ataxia, and epilepsy.
  • Genetic testing confirmed Angelman syndrome due to a maternal deletion of 15q11-13.

Findings:

  • This is the first documented instance of paroxysmal tonic upward gaze occurring in conjunction with Angelman syndrome.
  • Both paroxysmal tonic upward gaze and Angelman syndrome have demonstrated associations with dopaminergic neuron pathways.

Implications:

  • The findings suggest a potential link between dopaminergic system dysfunction in Angelman syndrome and the development of paroxysmal tonic upward gaze.
  • Further research into dopaminergic abnormalities may elucidate the etiology of paroxysmal tonic upward gaze in Angelman syndrome patients.
Abstract

Keywords:
Angelman syndromechromosome 15movement disorderparoxysmal tonic upward gaze

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