CASE REPORT article
Front. Immunol.
Sec. Autoimmune and Autoinflammatory Disorders : Autoimmune Disorders
Volume 16 - 2025 | doi: 10.3389/fimmu.2025.1644259
This article is part of the Research TopicCase Reports in Autoimmune and Autoinflammatory Disorders: Volume IIView all 19 articles
Overlap syndrome of anti-aquaporin-4 positive neuromyelitis optica spectrum disorder and mixed connective tissue disease: a case report
Provisionally accepted
- 1The Fifth Clinical College of Guangzhou University of Chinese Medicine, Guangzhou, China
- 2The University of Hong Kong-Shenzhen Hospital, Shenzhen, China
- 3Guangdong Provincial Second Hospital of Traditional Chinese Medicine, Guangzhou, China
- 4Guangdong Provincial Hospital of Chinese Medicine, Guangzhou, PR China, Guangzhou, China
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Neuromyelitis optica spectrum disorder (NMOSD) is an immune-mediated inflammatory demye linating disease affecting the optic nerve and spinal cord. NMOSD frequently coexists with other aut oimmune diseases. However, its concurrence with mixed connective tissue disease (MCTD) is rather rare and often overlooked. This study reports the first case in China of aquaporin-4 immunoglobulin G (AQP4-IgG) seropositive NMOSD preceding MCTD with long-term follow-up. Between 2016 and 2024, the patient successively developed left lower limb numbness, hiccups, vomiting, facial numbn ess, Raynaud's phenomenon, finger swelling, digital sclerosis, and synovitis. Acute-phase manageme nt involved pulse steroid therapy, while remission maintenance utilized azathioprine, mycophenolate mofetil, rituximab, and inebilizumab for relapse prevention. This paper presents this case and reviews other cases of NMOSD combined with MCTD, aiming to contribute to the clinical understanding an d management of this rare condition.
Keywords: Neuromyelitis optica spectrum disorder, Mixed Connective Tissue Disease, AQP4, case report, Overlap syndrome
Received: 10 Jun 2025; Accepted: 20 Aug 2025.
Copyright: © 2025 Wang, Wu, Zhang, Zhang, Jia and Geng. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence:
Ertao Jia, Guangdong Provincial Second Hospital of Traditional Chinese Medicine, Guangzhou, China
Hongling Geng, Guangdong Provincial Hospital of Chinese Medicine, Guangzhou, PR China, Guangzhou, China
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