title: A case of neurofibromatosis 1 presenting with optic pathway glioma with an early onset and an aggressive course.
abstract: Optic pathway glioma associated with neurofibromatosis 1 has a classically indolent course. However, involvement of the optic radiations is relatively rare and is associated with a more aggressive course. A three-year-old girl presented with strabismus and loss of vision in the left eye with relative afferent pupillary defect and optic disc pallor. She had multiple cafiota au lait spots. Visually evoked potential was suggestive of an optic nerve conduction defect and magnetic resonance imaging of the brain was suggestive of an optic pathway glioma involving the optic nerves, the optic chiasma and the optic tracts. The optic radiations and the dendate nuclei had hamartomas. Optic nerve biopsy confirmed pilocytic astrocytoma. Radical radiotherapy under general anesthesia was subsequently given. This case report aims to highlight the involvement of the optic radiations and the unusually aggressive clinical course in this case.
authors.affiliation: Pediatric Ophthalomology Department, Dr. Shroff's Charity Eye Hospital, Daryaganj, New Delhi, India. drsumaganesh@yahoo.com
authors.forename: Suma
authors.initials: S
authors.lastname: Ganesh
authors.forename: Archana
authors.initials: A
authors.lastname: Gupta
authors.forename: Manish
authors.initials: M
authors.lastname: Sharma
authors.forename: Sandeep
authors.initials: S
authors.lastname: Bhuttan
mesh_terms: D014408:Biomarkers, Tumor / Q000032:analysis; D002675:Child, Preschool; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D009456:Neurofibromatosis 1 / Q000473:pathology* / Q000532:radiotherapy; D009897:Optic Chiasm / Q000473:pathology* / Q000528:radiation effects; D020339:Optic Nerve Glioma / Q000737:chemistry / Q000473:pathology* / Q000532:radiotherapy; D019574:Optic Nerve Neoplasms / Q000737:chemistry / Q000473:pathology* / Q000532:radiotherapy
chemical_list: D014408:Biomarkers, Tumor