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NF1 – Optic Pathway Glioma — SCE Neurology MCQ

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ModerateNeuro-oncologyNF1 – Optic Pathway GliomaSCE Neurology

A 40-year-old man with NF1 (multiple café-au-lait spots, neurofibromas, axillary freckling, Lisch nodules) develops progressive visual loss in the left eye. MRI shows a fusiform enlargement and enhancement of the left optic nerve. What is the most likely diagnosis?

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Correct answer: D — Optic pathway glioma

Optic pathway gliomas (typically pilocytic astrocytoma, WHO grade 1) occur in approximately 15% of NF1 patients. They present with progressive visual loss, proptosis, and optic nerve enlargement on MRI. In NF1, they are often indolent and may not require treatment if asymptomatic. Treatment (chemotherapy with vincristine/carboplatin, or MEK inhibitors like selumetinib) is reserved for progressive visual loss. A: Vestibular schwannomas are bilateral in NF2, not NF1. C: Meningiomas are associated with NF2. D: ON is acute with pain. E: Lymphoma has a different imaging appearance.

Reference: NICE NG99; NF1 Guidelines