Paroxysmal tonic eye deviation: an atypical presentation of hypothalamic hamartoma

Ivana Olivieri1, Federica Teutonico, Simona Orcesi

  • 1Department of Child Neurology and Psychiatry, University of Pavia, Pavia, Italy.

Insights

This case study highlights a rare hypothalamic hamartoma presenting with early gaze deviation and later gelastic seizures. These symptoms may stem from the hamartoma's epileptogenic nature, not direct involvement of eye motility regions.

Area of Science:

  • Neurology
  • Developmental Pediatrics
  • Epileptology

Background:

  • Hypothalamic hamartoma is a rare congenital malformation.
  • Typically presents with gelastic seizures and cognitive decline.

Observation:

  • A child experienced atypical benign paroxysmal gaze deviation from 2-3 months of age.
  • Gelastic seizures developed later, at 13 years old.

Findings:

  • The hypothalamic hamartoma was not located in brain regions controlling eye movements.
  • Both gaze deviation and gelastic seizures are hypothesized to originate from the hamartoma's epileptogenic activity.

Implications:

  • This case broadens the understanding of hypothalamic hamartoma presentations.
  • Suggests a potential link between gaze deviation and gelastic seizures in this condition.
  • Highlights the epileptogenic potential of hypothalamic hamartomas.

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