title: Childhood orbitotemporal neurofibromatosis masked by congenital glaucoma and buphthalmos.
abstract: In newborns with unilateral buphthalmos and presumed congenital glaucoma, the differential diagnosis should include the rare condition of orbitotemporal neurofibromatosis. The authors present the diagnostic challenge of an unusual case of neurofibromatosis type 1 with unilateral congenital glaucoma, buphthalmos, and sphenoid-orbital dysplasia. The accompanying type of osseous orbital dysplasia has rarely been described in the literature, complicating the diagnostic and management process.
authors.affiliation: 1st Department of Ophthalmology, Aristotle University of Thessaloniki, AHEPA University Hospital, Thessaloniki, Greece.
authors.forename: Nikolas G
authors.initials: NG
authors.lastname: Ziakas
authors.forename: Evgenia D
authors.initials: ED
authors.lastname: Kanonidou
authors.forename: Kostas G
authors.initials: KG
authors.lastname: Boboridis
mesh_terms: D000477:Alkylating Agents / Q000008:administration & dosage; D003937:Diagnosis, Differential; D005901:Glaucoma / Q000151:congenital / Q000175:diagnosis* / Q000601:surgery; D006801:Humans; D006871:Hydrophthalmos / Q000175:diagnosis* / Q000601:surgery; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D016685:Mitomycin / Q000008:administration & dosage; D009456:Neurofibromatosis 1 / Q000175:diagnosis*; D009918:Orbital Neoplasms / Q000175:diagnosis*; D012888:Skull Neoplasms / Q000175:diagnosis*; D013100:Sphenoid Bone / Q000473:pathology*; D014057:Tomography, X-Ray Computed; D014130:Trabeculectomy
chemical_list: D000477:Alkylating Agents; D016685:Mitomycin