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Multiple Sclerosis Followed by Neuromyelitis Optica Spectrum Disorder: From the National Multiple Sclerosis Society
Carolyn Goldschmidt1, Steven L Galetta1, Robert P Lisak1
1From the Mellen Center for Multiple Sclerosis Treatment and Research (C.G.), Cleveland Clinic, OH; Departments of Neurology (S.L.G., L.J.B.), Population Health (L.J.B.) and Ophthalmology (L.J.B., S.L.G.), New York University Grossman School of Medicine; Department of Neurology (R.P.L.), Wayne State University, Detroit MI; Quest Diagnostics (A.H., M.K.R.), Secaucus, NJ; Department of Microbial Infection and Immunity (A.E.L.-R.), Department of Neuroscience Ohio State University Wexner Medical Center, Columbus; Department of Neurology (R.C.), Doctors Hospital at Renaissance; Department of Neurology (R.C.), University of Texas Rio Grande Valley; Division of Microbiology and Immunology (M.S.P.), Yerkes National Primate Research Center, and Department of Pathology and Laboratory Medicine, Emory University, Atlanta, GA; Department of Neurology (N.S., L.S.), Stanford University School of Medicine, Palo Alto, CA; Department of Neurology and Program in Immunology (S.S.Z.), University of California San Francisco; and Distinguished Senior Fellows (Sabbatical) Neuroimmunology Laboratory of Professor Lawrence Steinman (E.M.F., T.C.F.), Stanford University School of Medicine, Palo Alto, CA.
Abstract:
A woman presented at age 18 years with partial myelitis and diplopia and experienced multiple subsequent relapses. Her MRI demonstrated T2 abnormalities characteristic of multiple sclerosis (MS) (white matter ovoid lesions and Dawson fingers), and CSF demonstrated an elevated IgG index and oligoclonal bands restricted to the CSF. Diagnosed with clinically definite relapsing-remitting MS, she was treated with various MS disease-modifying therapies and eventually began experiencing secondary progression. At age 57 years, she developed an acute longitudinally extensive transverse myelitis and was found to have AQP4 antibodies by cell-based assay. Our analysis of the clinical course, radiographic findings, molecular diagnostic methods, and treatment response characteristics support the hypothesis that our patient most likely had 2 CNS inflammatory disorders: MS, which manifested as a teenager, and neuromyelitis optica spectrum disorder, which evolved in her sixth decade of life. This case emphasizes a key principle in neurology practice, which is to reconsider whether the original working diagnosis remains tenable, especially when confronted with evidence (clinical and/or paraclinical) that raises the possibility of a distinctively different disorder.
Insights
This case study highlights a patient initially diagnosed with multiple sclerosis (MS) who later developed symptoms indicative of neuromyelitis optica spectrum disorder (NMOSD), emphasizing diagnostic re-evaluation in neurology.
Area of Science:
- Neuroimmunology
- Neurology
- Clinical Case Study
Background:
- A patient presented with neurological symptoms at age 18, diagnosed with relapsing-remitting multiple sclerosis (MS).
- Over decades, the patient experienced disease progression and a severe myelitis episode at age 57.
Purpose of the Study:
- To analyze a complex neurological case involving a potential dual diagnosis of MS and neuromyelitis optica spectrum disorder (NMOSD).
- To emphasize the importance of reconsidering initial diagnoses in light of new clinical and paraclinical evidence.
Main Methods:
- Clinical case review including patient history, neurological examination, and disease course.
- Neuroimaging analysis (MRI) for characteristic lesions.
- Cerebrospinal fluid (CSF) analysis for oligoclonal bands and IgG index.
- Serological testing for aquaporin-4 (AQP4) antibodies using cell-based assays.
Main Results:
- Initial diagnosis of MS was supported by MRI findings (ovoid lesions, Dawson fingers) and CSF analysis.
- At age 57, the patient developed longitudinally extensive transverse myelitis and tested positive for AQP4 antibodies, suggestive of NMOSD.
- The patient's clinical course and diagnostic workup indicated the presence of two distinct central nervous system inflammatory disorders.
Conclusions:
- The patient likely had two co-existing CNS inflammatory conditions: MS and NMOSD.
- This case underscores the necessity for clinicians to reassess initial diagnoses when new evidence emerges.
- Reconsideration of diagnoses is crucial, especially when encountering conditions like NMOSD that may mimic or co-occur with MS.
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