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

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...

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Bibliographic Details
Published in:Internal Medicine 2021/05/15, Vol.60(10), pp.1611-1614
Main Authors: Hamada, Yuichi, Takahashi, Kazusa, Kanbayashi, Takamichi, Hatanaka, Yuki, Kobayashi, Shunsuke, Sonoo, Masahiro
Format: Article
Language:English
Subjects:
anti-aquaporin-4 antibody
Aquaporin 4
Aquaporins
Case Report
Central nervous system
Central nervous system diseases
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 1A
Coexistence
Corticosteroids
Cross-reaction
Internal medicine
Myelin
Neuritis
Neuromyelitis
neuromyelitis optica spectrum disorder
Optic neuritis
Peripheral myelin protein 22
Peripheral neuropathy
Spinal cord
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Summary: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.
ISSN:0918-2918
1349-7235
DOI:10.2169/internalmedicine.6153-20