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Updated: Jul 15, 2026
02:22
Full-Endoscopic Surgery for Hypothalamic Hamartoma Resection
Published on: April 12, 2024
Hypothalamic hamartoma with bilateral anophthalmia.
Burçak Bilginer1, Atilla Akbay, Nejat Akalan
1Department of Neurosurgery, Hacettepe University School of Medicine, Ankara, Turkey. burcak@tr.net
Summary
This study presents a rare case of hypothalamic hamartoma with bilateral anophthalmia in an infant. SOX2 gene mutations are implicated in the development of the brain and eyes, highlighting a potential genetic link.
Area of Science:
- Neuroscience
- Developmental Biology
- Ophthalmology
Background:
- Hypothalamic hamartomas are congenital brain malformations.
- These malformations can lead to seizures, intellectual disability, and precocious puberty.
Observation:
- A case report details a 20-day-old infant with hypothalamic hamartoma and bilateral anophthalmia.
- No other congenital anomalies were identified in this patient.
Findings:
- This case represents a rare co-occurrence of hypothalamic hamartoma and bilateral anophthalmia.
- Mutations in the SOX2 gene are suggested to play a role in the development of these conditions.
Implications:
- This case underscores the critical role of SOX2 in brain and eye development.
- Further research into SOX2 mutations may elucidate mechanisms underlying rare congenital malformations.
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