Case Report: Multiple sclerosis and Neurofibromatosis type 1: a rare comorbidity - Takeaways - MDSpire

Case Report: Multiple sclerosis and Neurofibromatosis type 1: a rare comorbidity

  • By

  • Angela Musci

  • Luigi Bonan

  • Eleonora Manzoni

  • Michele Carbonelli

  • Giulia Amore

  • Rocco Liguori

  • Valerio Carelli

  • Francesco Ventruto

  • Alessandra Lugaresi

  • Chiara La Morgia

  • July 9, 2026

  • 0 min

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  • 1

    The coexistence of Neurofibromatosis type 1 (NF1) and Multiple Sclerosis (MS) is rare, with only about 40 cases documented in the literature.

  • 2

    Patient 1, a 33-year-old female, was diagnosed with MS after presenting with acute bilateral visual loss and bladder dysfunction.

  • 3

    Patient 2, a 49-year-old male, was diagnosed with NF1 and later developed MS during surveillance, revealing new demyelinating lesions.

  • 4

    Differentiating between MS-related optic neuritis and symptoms from optic pathway gliomas presents a diagnostic challenge.

  • 5

    Management of MS in patients with NF1 is complicated by the lack of established therapeutic guidelines for this rare comorbidity.

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