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 report
