Case Report: Contiguous presentation of anti-MDA5 juvenile dermatomyositis and anti-AQP4 neuromyelitis optica spectrum disorder in an adolescent patient

Front Pediatr. 2024 Jun 14:12:1376088. doi: 10.3389/fped.2024.1376088. eCollection 2024.

Abstract

Neuromyelitis optica spectrum disorder (NMOSD) is a rare inflammatory disorder of the central nervous system (CNS) that is known to be associated with other neurologic and organ-specific autoimmune conditions. There has been increasing recognition of the association between NMOSD and systemic autoimmune disease, most commonly systemic lupus erythematosus and Sjogren's syndrome. We report a case of an adolescent presenting with anti-melanoma differentiation-associated protein 5 juvenile dermatomyositis (anti-MDA5 JDM) and NMOSD, exhibiting clinical features of myelitis, polyarthritis, myositis, and skin involvement. Currently, only two other published cases have described NMOSD associated with anti-MDA5 dermatomyositis, both in adults. To the best of our knowledge, this is the first reported case in an adolescent patient.

Keywords: anti-aquaporin-4; anti-melanoma differentiation-associated proteins 5; case report; dermatomyositis; juvenile dermatomyositis; neuromyelitis optica spectrum disorder.

Publication types

  • Case Reports

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The authors declare that no financial support was received for the research, authorship, and/or publication of this article.