A 6-year-old girl with multiple café-au-lait macules and axillary freckling presents with gradually progressive painless visual loss in the right eye and mild proptosis. Fundus shows optic atrophy. MRI reveals a fusiform, kinked enlargement of the right intraorbital optic nerve. The MOST likely diagnosis is:
- A Optic nerve glioma associated with neurofibromatosis type 1 ✓
- B Optic nerve sheath meningioma
- C Retinoblastoma with optic nerve invasion
- D Orbital apex granuloma
Correct answer: A. Optic nerve glioma associated with neurofibromatosis type 1
Explanation
Optic pathway gliomas are strongly associated with neurofibromatosis type 1, whose diagnostic cutaneous markers are described here. They present in childhood with slowly progressive visual loss, optic atrophy or papilloedema, and MRI shows a fusiform tubular or kinked enlargement of the optic nerve. Optic nerve sheath meningioma occurs in middle-aged women and shows tram-track calcification rather than fusiform expansion.
Reference: Kanski's Clinical Ophthalmology, 9th ed.
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