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January 2023; 10 (1) Diagnostic & Treatment ChallengesOpen Access

Recurrent Optic Neuritis and Perineuritis Followed by an Unexpected Discovery

From the National Multiple Sclerosis Society Case Conference Proceedings

Daniela A. Pimentel Maldonado, Robert Lisak, Steven Galetta, Laura Balcer, Thomas Varkey, Andrew Goodman, Jennifer Graves, Michael Racke, Scott S. Zamvil, Scott Newsome, Elliot M. Frohman, Teresa C. Frohman
First published November 10, 2022, DOI: https://doi.org/10.1212/NXI.0000000000200051
Daniela A. Pimentel Maldonado
From the Department of Neurology (D.A.P.M., S.N.), Johns Hopkins Hospital, Baltimore, MD; Department of Neurology (R.L.), Wayne State University, Detroit, MI; Departments of Neurology (S.G., L.B.), Population Health, and Ophthalmology, NYU Grossman School of Medicine; Department of Neurology (T.V.), Dell Medical School, The University of Texas at Austin; Department of Neurology (A.G.), University of Rochester, NY; Department of Neurosciences (J.G.), University of California at San Diego; Quest Diagnostics (M.R.), Secaucus, NJ; 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.
MD, MSCR
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Robert Lisak
From the Department of Neurology (D.A.P.M., S.N.), Johns Hopkins Hospital, Baltimore, MD; Department of Neurology (R.L.), Wayne State University, Detroit, MI; Departments of Neurology (S.G., L.B.), Population Health, and Ophthalmology, NYU Grossman School of Medicine; Department of Neurology (T.V.), Dell Medical School, The University of Texas at Austin; Department of Neurology (A.G.), University of Rochester, NY; Department of Neurosciences (J.G.), University of California at San Diego; Quest Diagnostics (M.R.), Secaucus, NJ; 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.
MD
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Steven Galetta
From the Department of Neurology (D.A.P.M., S.N.), Johns Hopkins Hospital, Baltimore, MD; Department of Neurology (R.L.), Wayne State University, Detroit, MI; Departments of Neurology (S.G., L.B.), Population Health, and Ophthalmology, NYU Grossman School of Medicine; Department of Neurology (T.V.), Dell Medical School, The University of Texas at Austin; Department of Neurology (A.G.), University of Rochester, NY; Department of Neurosciences (J.G.), University of California at San Diego; Quest Diagnostics (M.R.), Secaucus, NJ; 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.
MD
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Laura Balcer
From the Department of Neurology (D.A.P.M., S.N.), Johns Hopkins Hospital, Baltimore, MD; Department of Neurology (R.L.), Wayne State University, Detroit, MI; Departments of Neurology (S.G., L.B.), Population Health, and Ophthalmology, NYU Grossman School of Medicine; Department of Neurology (T.V.), Dell Medical School, The University of Texas at Austin; Department of Neurology (A.G.), University of Rochester, NY; Department of Neurosciences (J.G.), University of California at San Diego; Quest Diagnostics (M.R.), Secaucus, NJ; 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.
MD, MSCE
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Thomas Varkey
From the Department of Neurology (D.A.P.M., S.N.), Johns Hopkins Hospital, Baltimore, MD; Department of Neurology (R.L.), Wayne State University, Detroit, MI; Departments of Neurology (S.G., L.B.), Population Health, and Ophthalmology, NYU Grossman School of Medicine; Department of Neurology (T.V.), Dell Medical School, The University of Texas at Austin; Department of Neurology (A.G.), University of Rochester, NY; Department of Neurosciences (J.G.), University of California at San Diego; Quest Diagnostics (M.R.), Secaucus, NJ; 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.
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Andrew Goodman
From the Department of Neurology (D.A.P.M., S.N.), Johns Hopkins Hospital, Baltimore, MD; Department of Neurology (R.L.), Wayne State University, Detroit, MI; Departments of Neurology (S.G., L.B.), Population Health, and Ophthalmology, NYU Grossman School of Medicine; Department of Neurology (T.V.), Dell Medical School, The University of Texas at Austin; Department of Neurology (A.G.), University of Rochester, NY; Department of Neurosciences (J.G.), University of California at San Diego; Quest Diagnostics (M.R.), Secaucus, NJ; 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.
MD
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Jennifer Graves
From the Department of Neurology (D.A.P.M., S.N.), Johns Hopkins Hospital, Baltimore, MD; Department of Neurology (R.L.), Wayne State University, Detroit, MI; Departments of Neurology (S.G., L.B.), Population Health, and Ophthalmology, NYU Grossman School of Medicine; Department of Neurology (T.V.), Dell Medical School, The University of Texas at Austin; Department of Neurology (A.G.), University of Rochester, NY; Department of Neurosciences (J.G.), University of California at San Diego; Quest Diagnostics (M.R.), Secaucus, NJ; 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.
MD, PhD
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Michael Racke
From the Department of Neurology (D.A.P.M., S.N.), Johns Hopkins Hospital, Baltimore, MD; Department of Neurology (R.L.), Wayne State University, Detroit, MI; Departments of Neurology (S.G., L.B.), Population Health, and Ophthalmology, NYU Grossman School of Medicine; Department of Neurology (T.V.), Dell Medical School, The University of Texas at Austin; Department of Neurology (A.G.), University of Rochester, NY; Department of Neurosciences (J.G.), University of California at San Diego; Quest Diagnostics (M.R.), Secaucus, NJ; 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.
MD
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Scott S. Zamvil
From the Department of Neurology (D.A.P.M., S.N.), Johns Hopkins Hospital, Baltimore, MD; Department of Neurology (R.L.), Wayne State University, Detroit, MI; Departments of Neurology (S.G., L.B.), Population Health, and Ophthalmology, NYU Grossman School of Medicine; Department of Neurology (T.V.), Dell Medical School, The University of Texas at Austin; Department of Neurology (A.G.), University of Rochester, NY; Department of Neurosciences (J.G.), University of California at San Diego; Quest Diagnostics (M.R.), Secaucus, NJ; 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.
MD, PhD
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Scott Newsome
From the Department of Neurology (D.A.P.M., S.N.), Johns Hopkins Hospital, Baltimore, MD; Department of Neurology (R.L.), Wayne State University, Detroit, MI; Departments of Neurology (S.G., L.B.), Population Health, and Ophthalmology, NYU Grossman School of Medicine; Department of Neurology (T.V.), Dell Medical School, The University of Texas at Austin; Department of Neurology (A.G.), University of Rochester, NY; Department of Neurosciences (J.G.), University of California at San Diego; Quest Diagnostics (M.R.), Secaucus, NJ; 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.
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Elliot M. Frohman
From the Department of Neurology (D.A.P.M., S.N.), Johns Hopkins Hospital, Baltimore, MD; Department of Neurology (R.L.), Wayne State University, Detroit, MI; Departments of Neurology (S.G., L.B.), Population Health, and Ophthalmology, NYU Grossman School of Medicine; Department of Neurology (T.V.), Dell Medical School, The University of Texas at Austin; Department of Neurology (A.G.), University of Rochester, NY; Department of Neurosciences (J.G.), University of California at San Diego; Quest Diagnostics (M.R.), Secaucus, NJ; 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.
MD, PhD
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Teresa C. Frohman
From the Department of Neurology (D.A.P.M., S.N.), Johns Hopkins Hospital, Baltimore, MD; Department of Neurology (R.L.), Wayne State University, Detroit, MI; Departments of Neurology (S.G., L.B.), Population Health, and Ophthalmology, NYU Grossman School of Medicine; Department of Neurology (T.V.), Dell Medical School, The University of Texas at Austin; Department of Neurology (A.G.), University of Rochester, NY; Department of Neurosciences (J.G.), University of California at San Diego; Quest Diagnostics (M.R.), Secaucus, NJ; 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.
MPAS, PA-C
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Full PDF
Citation
Recurrent Optic Neuritis and Perineuritis Followed by an Unexpected Discovery
From the National Multiple Sclerosis Society Case Conference Proceedings
Daniela A. Pimentel Maldonado, Robert Lisak, Steven Galetta, Laura Balcer, Thomas Varkey, Andrew Goodman, Jennifer Graves, Michael Racke, Scott S. Zamvil, Scott Newsome, Elliot M. Frohman, Teresa C. Frohman
Neurol Neuroimmunol Neuroinflamm Jan 2023, 10 (1) e200051; DOI: 10.1212/NXI.0000000000200051

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Abstract

We describe a woman with a history of relapsing acute optic neuritis and perineuritis. Testing failed to confirm a specific diagnosis; hence, she was diagnosed with seronegative neuromyelitis optica spectrum disorder and treated with the immunotherapy rituximab, later in conjunction with mycophenolate mofetil. She achieved a durable remission for 9 years until she presented with paresthesia affecting her left fifth digit, right proximal thigh, and left foot, while also reporting a 25-pound weight loss over the prior 3 months. New imaging demonstrated a longitudinally extensive and enhancing optic nerve, in conjunction with multifocal enhancing lesions within the spinal cord, in a skip-like distribution. The differential diagnosis is discussed.

Glossary

ACE=
angiotensin-converting enzyme;
anti-AQP4=
aquaporin-4 antibody;
BNS=
Bing-Neel syndrome;
BTK=
Bruton tyrosine kinase;
CBA=
cell-based assay;
CLL=
chronic lymphocytic lymphoma;
ED=
emergency department;
MMF=
mycophenolate mofetil;
MOG=
myelin oligodendrocyte glycoprotein;
MOGAD=
MOG antibody disease;
NMOSD=
neuromyelitis optica spectrum disorder;
ON=
optic neuritis;
RBC=
red blood cell;
VA=
visual acuity;
WBC=
white blood cell;
WM=
Waldenstrom macroglobulinemia

Footnotes

  • ↵* These authors contributed equally to this work as co–senior authors.

  • Go to Neurology.org/NN for full disclosures. Funding information is provided at the end of the article.

  • The Article Processing Charge was funded by the National Multiple Sclerosis Society.

  • Received May 12, 2022.
  • Accepted in final form September 12, 2022.
  • Copyright © 2022 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology.

This is an open access article distributed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivatives License 4.0 (CC BY-NC-ND), which permits downloading and sharing the work provided it is properly cited. The work cannot be changed in any way or used commercially without permission from the journal.

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