Aquaporin-4-antibody-positive Neuromyelitis Optica Spectrum Disorder in a Patient with Charcot-Marie-Tooth Disease Type 1A

• Published in: Internal Medicine Vol. 60; no. 10; pp. 1611 - 1614
• Main Authors: Kobayashi, Shunsuke, Hatanaka, Yuki, Takahashi, Kazusa, Hamada, Yuichi, Kanbayashi, Takamichi, Sonoo, Masahiro
• Format: Journal Article
• Language: English
• Published: Japan The Japanese Society of Internal Medicine 15.05.2021; Japan Science and Technology Agency
• Subjects: anti-aquaporin-4 antibody; Aquaporin 4; Aquaporins; Autoantibodies; Case Report; Central nervous system; Central nervous system diseases; Charcot-Marie-Tooth disease; Charcot-Marie-Tooth Disease - complications; Charcot-Marie-Tooth Disease - diagnosis; Charcot-Marie-Tooth Disease - genetics; Charcot-Marie-Tooth disease type 1A; Coexistence; Corticosteroids; Cross-reaction; Female; Humans; Internal medicine; Middle Aged; Myelin; Neuritis; Neuromyelitis; Neuromyelitis Optica - complications; Neuromyelitis Optica - diagnosis; neuromyelitis optica spectrum disorder; Optic Neuritis; Peripheral myelin protein 22; Peripheral neuropathy; Spinal cord; anti-aquaporin-4 antibody; neuromyelitis optica spectrum disorder; Charcot-Marie-Tooth disease type 1A; optic neuritis
• ISSN: 0918-2918; 1349-7235; 1349-7235
• DOI: 10.2169/internalmedicine.6153-20

Charcot-Marie-Tooth disease type 1A (CMT1A) is a hereditary peripheral neuropathy, and its involvement in the central nervous system (CNS) is very rare. We herein report a 51-year-old woman with CMT1A who suffered from recurrent optic neuritis and myelopathy. Under the diagnosis of anti-aquaporin-4 (anti-AQP4) antibody positive neuromyelitis optica spectrum disorder (NMOSD), we treated her successfully with corticosteroids. This is the first report of CMT1A complicated with anti-AQP4-positive NMOSD. Although the coexistence of the two disorders may simply be a coincidence, we speculated that immune cross-reaction between overexpressed peripheral myelin protein 22 and CNS myelin may have caused concomitant CMT1A and NMOSD.