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Case Reports
. 2004 Jul-Aug;41(4):241-4.
doi: 10.3928/0191-3913-20040701-15.

Optic nerve compression in infantile malignant autosomal recessive osteopetrosis

Thomas J Cummings  1 , Alan D Proia
Affiliations
Case Reports

Optic nerve compression in infantile malignant autosomal recessive osteopetrosis

Thomas J Cummings et al. J Pediatr Ophthalmol Strabismus. 2004 Jul-Aug.

Abstract

A 6-month-old infant was diagnosed with infantile malignant autosomal recessive osteopetrosis. An ophthalmologic examination revealed optic nerve pallor and computed tomography of the brain showed narrowing of the orbital fissure. Unrelated umbilical cord blood transplantation was performed. Four months later, the infant died of respiratory complications.

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