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.
Cummings
Thomas J
TJ
Duke University Medical Center, Department of Pathology, Durham, North Carolina, USA.
Proia
Alan D
AD
D017809:Fatal Outcome; D005808:Genes, Recessive; D006801:Humans; D007223:Infant; D008297:Male; D009408:Nerve Compression Syndromes / Q000000981:diagnostic imaging / Q000209:etiology*; D009901:Optic Nerve Diseases / Q000000981:diagnostic imaging / Q000209:etiology*; D009915:Orbit / Q000000981:diagnostic imaging / Q000473:pathology; D010022:Osteopetrosis / Q000150:complications* / Q000000981:diagnostic imaging / Q000235:genetics / Q000473:pathology; D014057:Tomography, X-Ray Computed