免疫组学研究
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The First Documented Systemic Lupus Erythematosus-Associated Neuromyelitis Optica Spectrum Disorder with Cystic Lesions and Dual Seropositivity for Anti-AQP4 and Anti-MOG Antibodies in the Middle East and North Africa Region: A Case Report

Omar Al Jassem1*, Rami Rifi, Karim Kheir, Alaa Masri, Hassan Eid2

Neuromyelitis Optica Spectrum Disorder (NMOSD) is a rare autoimmune disorder of the central nervous system that affects the optic nerve and spinal cord. It is associated with autoantibodies against Aquaporine-4 (AQP-4) and/or myelin oligodendrocytes glycoproteins. It is diagnosed based on clinical, radiological, and serological criteria, and treated with immunosuppressants in the acute phase. Long-term immunosuppresion is essential to prevent potential relapses. In this case we present hereby a 19-year-old female patient with Systemic Lupus Erythematosus (SLE), who presented with blurriness and loss of vision in her left eye. Optical coherence tomography was normal, but a gadolinium-enhanced cervico-dorsal MRI showed multiple lesions extending from the brainstem to the C7-T1 junction suggestive of Longitudinally Extensive Transverse Myelitis (LETM), the largest of which was a cystic lesion at the cervico-spinal junction. A contrast injection also revealed left optic neuritis. Cerebrospinal fluid analysis showed elevated IgG and red blood cell count, but no oligoclonal bands. The patient tested positive for AQP-4 autoantibodies, confirming the diagnosis of NMOSD. Treatment with Intravenous (IV) methylprednisolone led to partial improvement, but the patient experienced a relapse with severe neurological symptoms, including tetraplegia and bladder and bowel dysfunction. This case illustrates the importance of considering NMOSD in the differential diagnosis of patients with SLE who present with optic neuritis and/or myelitis, especially when MRI findings are suggestive of LETM. Early diagnosis and adherence to treatment are crucial to prevent further relapses and deleterious sequelae.