Optic nerve compression in infantile malignant autosomal recessive osteopetrosis

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.