Internal Medicine, 2021/05/15, Vol.60(10), pp.1611-1614
2021
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- Autor(en) / Beteiligte
- Titel
- Aquaporin-4-antibody-positive Neuromyelitis Optica Spectrum Disorder in a Patient with Charcot-Marie-Tooth Disease Type 1A
- Ist Teil von
- Internal Medicine, 2021/05/15, Vol.60(10), pp.1611-1614
- Ort / Verlag
- Japan: The Japanese Society of Internal Medicine
- Erscheinungsjahr
- 2021
- Quelle
- Free E-Journal (出版社公開部分のみ）
- Beschreibungen/Notizen
- 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.
- Sprache
- Englisch
- Identifikatoren
- ISSN: 0918-2918eISSN: 1349-7235DOI: 10.2169/internalmedicine.6153-20Titel-ID: cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8188030
- Format
- –
- Schlagworte
- 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