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DOI: 10.1055/a-2554-2426
Bilateral Endoscopic Endonasal Optic Nerve Decompression in an Infant with Osteopetrosis: A Case Report
Funding None.

Abstract
Background
Osteopetrosis is a rare genetic disorder characterized by abnormal bone density and structure, often leading to vision loss due to optic canal stenosis and consequent nerve compression. Early intervention is critical to prevent irreversible damage. This case report discusses the management of bilateral optic nerve compression in an infant with osteopetrosis.
Case Description
A 7-month-old male with a family history of osteopetrosis presented with hepatosplenomegaly. The infant was diagnosed with osteopetrosis based on radiological findings and genetic testing. Ophthalmologic examination and magnetic resonance imaging showed evidence of bilateral optic nerve compression. Endoscopic transcaruncular optic nerve decompression was not attainable The patient underwent a bilateral expanded endoscopic endonasal medial orbital wall and optic canal decompression.
Conclusion
This is one of the few reported cases of endoscopic endonasal optic nerve decompression surgery on an infant. Endoscopic endonasal optic nerve decompression surgery is a viable and effective treatment option for optic nerve compression in infants with osteopetrosis, especially in cases where cost of surgery is a limiting factor for patients. This approach provides direct access to the optic canal with minimal morbidity, offering significant potential for visual recovery, and an improved quality of life. Our patient represents the youngest reported infant in the literature, demonstrating the potential for undergoing this surgical approach at the earliest possible age to aid with his prognosis.
Keywords
osteopetrosis - optic nerve decompression - endoscopic endonasal approach - pediatric - case reportPublication History
Received: 22 October 2024
Accepted: 08 March 2025
Accepted Manuscript online:
11 March 2025
Article published online:
11 April 2025
© 2025. The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution License, permitting unrestricted use, distribution, and reproduction so long as the original work is properly cited. (https://creativecommons.org/licenses/by/4.0/)
Georg Thieme Verlag KG
Oswald-Hesse-Straße 50, 70469 Stuttgart, Germany
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