The pathophysiology of genetic peripheral demyelinating and axonal neuropathies typically differs from that of central demyelinating diseases. However, case reports in the literature have demonstrated instances where these distinct disorders can manifest concurrently. In our report, we describe the case of a 53-year-old woman with Charcot-Marie-Tooth disease type 2A since childhood who presented in middle age with optic neuritis. Her clinical examination, laboratory tests, and imaging results met criteria for multiple sclerosis and outpatient f/u was established in the Neuroimmunology clinic. Existing case reports for other subtypes of Charcot-Marie-Tooth have noted co-occurrence with multiple sclerosis. The underlying pathophysiology remains unknown but multiple theories and comparisons with other neurologic diseases exist. We review these and also emphasize the importance of future disease specific investigations in cases of co-occurrence to unveil new opportunities for therapeutic advancements.
Keywords: Charcot-Marie-Tooth; multiple sclerosis; optic neuritis.
© The Author(s) 2025.