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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.
Abstract:
Hypothalamic hamartoma is a rare developmental non-neoplastic malformation, often characterised by early onset gelastic seizures and later progressive cognitive and behavioural deterioration. In this case study, we have examined a child who presented with an atypical onset of benign paroxysmal gaze deviation between two to three months of age. The patient subsequently developed gelastic seizures at age 13. Based on the observation that hypothalamic hamartomas do not involve any functional region involved in eye motility, we speculate that both gaze deviation and gelastic seizures are a manifestation of the epileptogenic nature of the hypothalamic hamartoma. [Published with video sequences].
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