Sero-negative neuromyelitis optica spectrum disorder as a presenting feature of systemic lupus erythematosus: A rare case report
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Ahmad Syahmi Yusof Zaki 1 2 , Yong Chuan Chee 1 , Siti Nurbaya Mohd Nawi 1 , Nur Asma Sapiai 1 , Wan Syamimee Wan Ghazali 1 *
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1 Department of Internal Medicine, School of Medical Sciences, Universiti Sains Malaysia, Kubang Kerian, MALAYSIA2 Faculty of Medicine, Universiti Sultan Zainal Abidin, Kuala Terengganu, Terengganu, MALAYSIA* Corresponding Author

Abstract

Background: Neuromyelitis optica spectrum disorder (NMOSD) is a rare autoimmune demyelinating that predominantly affects the optic nerves and spinal cord. While AQP4-IgG seropositivity remains the diagnostic hallmark, a subset of patients presents as seronegative NMOSD, fulfilling clinical and radiological criteria in the absence of detectable antibodies. Notably, NMOSD can occur independently or coexist with other autoimmune diseases, including systemic lupus erythematosus (SLE). It is critical to differentiate NMOSD from neuropsychiatric lupus, as the treatment strategies differ significantly.
Case summary: We present a case of a 25-year-old woman with no prior history of autoimmune disease who initially presented with acute urinary retention. She subsequently developed altered mental status, bilateral lower limb weakness, and brainstem symptoms such as ptosis, involuntary facial movements, and nystagmus. Magnetic resonance imaging of the brain and spine revealed longitudinally extensive transverse myelitis (LETM), indicative of NMOSD. Serological testing revealed positive ANA, high anti-dsDNA, low complement levels, and pancytopenia, fulfilling the 2019 ACR/EULAR criteria for SLE. However, the AQP4 antibodies were negative. After treatment with intravenous methylprednisolone and five cycles of plasma exchange, the patient’s neurological condition improved significantly.
Conclusion: This case highlights that NMOSD may be the initial manifestation of SLE, even in the absence of AQP4 antibodies. A high index of suspicion for NMOSD is warranted when LETM or unexplained brainstem symptoms are present, allowing for timely diagnosis and initiation of appropriate therapy.

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This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Article Type: Case Report

ELECTRON J GEN MED, Volume 23, Issue 2, April 2026, Article No: em724

https://doi.org/10.29333/ejgm/18091

Publication date: 12 Mar 2026

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