Relapsing White Matter Disease and Subclinical Optic Neuropathy.

Journal

Neurology(R) neuroimmunology & neuroinflammation

ISSN: 2332-7812

Titre abrégé: Neurol Neuroimmunol Neuroinflamm

Pays: United States

ID NLM: 101636388

Informations de publication

Date de publication:
Mar 2024

Historique:

medline: 5 1 2024

pubmed: 5 1 2024

entrez: 5 1 2024

Statut: ppublish

Résumé

A 16-year-old adolescent boy presented with recurrent episodes of weakness and numbness. Brain MRI demonstrated subcortical, juxtacortical, and periventricular white matter T2 hyperintensities with gadolinium enhancement. CSF was positive for oligoclonal bands that were not present in serum. Despite treatment with steroids, IV immunoglobulins, plasmapheresis, and rituximab, he continued to have episodes of weakness and numbness and new areas of T2 hyperintensity on imaging. Neuro-ophthalmologic examination revealed a subclinical optic neuropathy with predominant involvement of the papillomacular bundle. Genetic evaluation and brain biopsy led to an unexpected diagnosis.

Identifiants

DOI: 10.1212/NXI.0000000000200194 PMID: 38181317

pubmed: 38181317

doi: 10.1212/NXI.0000000000200194

doi:

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

e200194

Auteurs

Kimberly A O'Neill (KA)

From the Department of Neurology (K.A.O., A.D., N.J.A., L.J.B., S.G., I.K., C.M., J.R., C.M.W., S.N.G., L.B.K.); Department of Ophthalmology (A.D.); Division of Neurogenetics (NJA, CS); Department of Ophthalmology (L.J.B., S.G., S.N.G.); Department of Population Health (L.J.B.); Department of Radiology (M.B.), NYU Grossman School of Medicine, New York, NY; Department of Neurosciences (J.G.), University of California, San Diego; Department of Pathology (C.M.), Weill Cornell Medicine, New York, NY; Department of Neurology (S.D.N.), Johns Hopkins University, Baltimore, MD; Departments of Pediatrics (J.P.) and Pathology (C.M.W.), NYU Grossman School of Medicine, New York, NY; and Department of Neurology (S.S.Z.), University of California, San Francisco.

Andrew Dugue (A)

From the Department of Neurology (K.A.O., A.D., N.J.A., L.J.B., S.G., I.K., C.M., J.R., C.M.W., S.N.G., L.B.K.); Department of Ophthalmology (A.D.); Division of Neurogenetics (NJA, CS); Department of Ophthalmology (L.J.B., S.G., S.N.G.); Department of Population Health (L.J.B.); Department of Radiology (M.B.), NYU Grossman School of Medicine, New York, NY; Department of Neurosciences (J.G.), University of California, San Diego; Department of Pathology (C.M.), Weill Cornell Medicine, New York, NY; Department of Neurology (S.D.N.), Johns Hopkins University, Baltimore, MD; Departments of Pediatrics (J.P.) and Pathology (C.M.W.), NYU Grossman School of Medicine, New York, NY; and Department of Neurology (S.S.Z.), University of California, San Francisco.

Nicolas J Abreu (NJ)

From the Department of Neurology (K.A.O., A.D., N.J.A., L.J.B., S.G., I.K., C.M., J.R., C.M.W., S.N.G., L.B.K.); Department of Ophthalmology (A.D.); Division of Neurogenetics (NJA, CS); Department of Ophthalmology (L.J.B., S.G., S.N.G.); Department of Population Health (L.J.B.); Department of Radiology (M.B.), NYU Grossman School of Medicine, New York, NY; Department of Neurosciences (J.G.), University of California, San Diego; Department of Pathology (C.M.), Weill Cornell Medicine, New York, NY; Department of Neurology (S.D.N.), Johns Hopkins University, Baltimore, MD; Departments of Pediatrics (J.P.) and Pathology (C.M.W.), NYU Grossman School of Medicine, New York, NY; and Department of Neurology (S.S.Z.), University of California, San Francisco.

ORCID: 0000-0002-8288-6268

Laura J Balcer (LJ)

From the Department of Neurology (K.A.O., A.D., N.J.A., L.J.B., S.G., I.K., C.M., J.R., C.M.W., S.N.G., L.B.K.); Department of Ophthalmology (A.D.); Division of Neurogenetics (NJA, CS); Department of Ophthalmology (L.J.B., S.G., S.N.G.); Department of Population Health (L.J.B.); Department of Radiology (M.B.), NYU Grossman School of Medicine, New York, NY; Department of Neurosciences (J.G.), University of California, San Diego; Department of Pathology (C.M.), Weill Cornell Medicine, New York, NY; Department of Neurology (S.D.N.), Johns Hopkins University, Baltimore, MD; Departments of Pediatrics (J.P.) and Pathology (C.M.W.), NYU Grossman School of Medicine, New York, NY; and Department of Neurology (S.S.Z.), University of California, San Francisco.

ORCID: 0000-0002-5136-4539

Marc Branche (M)

From the Department of Neurology (K.A.O., A.D., N.J.A., L.J.B., S.G., I.K., C.M., J.R., C.M.W., S.N.G., L.B.K.); Department of Ophthalmology (A.D.); Division of Neurogenetics (NJA, CS); Department of Ophthalmology (L.J.B., S.G., S.N.G.); Department of Population Health (L.J.B.); Department of Radiology (M.B.), NYU Grossman School of Medicine, New York, NY; Department of Neurosciences (J.G.), University of California, San Diego; Department of Pathology (C.M.), Weill Cornell Medicine, New York, NY; Department of Neurology (S.D.N.), Johns Hopkins University, Baltimore, MD; Departments of Pediatrics (J.P.) and Pathology (C.M.W.), NYU Grossman School of Medicine, New York, NY; and Department of Neurology (S.S.Z.), University of California, San Francisco.

Steven Galetta (S)

From the Department of Neurology (K.A.O., A.D., N.J.A., L.J.B., S.G., I.K., C.M., J.R., C.M.W., S.N.G., L.B.K.); Department of Ophthalmology (A.D.); Division of Neurogenetics (NJA, CS); Department of Ophthalmology (L.J.B., S.G., S.N.G.); Department of Population Health (L.J.B.); Department of Radiology (M.B.), NYU Grossman School of Medicine, New York, NY; Department of Neurosciences (J.G.), University of California, San Diego; Department of Pathology (C.M.), Weill Cornell Medicine, New York, NY; Department of Neurology (S.D.N.), Johns Hopkins University, Baltimore, MD; Departments of Pediatrics (J.P.) and Pathology (C.M.W.), NYU Grossman School of Medicine, New York, NY; and Department of Neurology (S.S.Z.), University of California, San Francisco.

ORCID: 0000-0003-3781-7324

Jennifer Graves (J)

From the Department of Neurology (K.A.O., A.D., N.J.A., L.J.B., S.G., I.K., C.M., J.R., C.M.W., S.N.G., L.B.K.); Department of Ophthalmology (A.D.); Division of Neurogenetics (NJA, CS); Department of Ophthalmology (L.J.B., S.G., S.N.G.); Department of Population Health (L.J.B.); Department of Radiology (M.B.), NYU Grossman School of Medicine, New York, NY; Department of Neurosciences (J.G.), University of California, San Diego; Department of Pathology (C.M.), Weill Cornell Medicine, New York, NY; Department of Neurology (S.D.N.), Johns Hopkins University, Baltimore, MD; Departments of Pediatrics (J.P.) and Pathology (C.M.W.), NYU Grossman School of Medicine, New York, NY; and Department of Neurology (S.S.Z.), University of California, San Francisco.

ORCID: 0000-0003-1539-1940

Ilya Kister (I)

From the Department of Neurology (K.A.O., A.D., N.J.A., L.J.B., S.G., I.K., C.M., J.R., C.M.W., S.N.G., L.B.K.); Department of Ophthalmology (A.D.); Division of Neurogenetics (NJA, CS); Department of Ophthalmology (L.J.B., S.G., S.N.G.); Department of Population Health (L.J.B.); Department of Radiology (M.B.), NYU Grossman School of Medicine, New York, NY; Department of Neurosciences (J.G.), University of California, San Diego; Department of Pathology (C.M.), Weill Cornell Medicine, New York, NY; Department of Neurology (S.D.N.), Johns Hopkins University, Baltimore, MD; Departments of Pediatrics (J.P.) and Pathology (C.M.W.), NYU Grossman School of Medicine, New York, NY; and Department of Neurology (S.S.Z.), University of California, San Francisco.

ORCID: 0000-0003-3549-949X

Cynthia Magro (C)

From the Department of Neurology (K.A.O., A.D., N.J.A., L.J.B., S.G., I.K., C.M., J.R., C.M.W., S.N.G., L.B.K.); Department of Ophthalmology (A.D.); Division of Neurogenetics (NJA, CS); Department of Ophthalmology (L.J.B., S.G., S.N.G.); Department of Population Health (L.J.B.); Department of Radiology (M.B.), NYU Grossman School of Medicine, New York, NY; Department of Neurosciences (J.G.), University of California, San Diego; Department of Pathology (C.M.), Weill Cornell Medicine, New York, NY; Department of Neurology (S.D.N.), Johns Hopkins University, Baltimore, MD; Departments of Pediatrics (J.P.) and Pathology (C.M.W.), NYU Grossman School of Medicine, New York, NY; and Department of Neurology (S.S.Z.), University of California, San Francisco.

Claire Miller (C)

From the Department of Neurology (K.A.O., A.D., N.J.A., L.J.B., S.G., I.K., C.M., J.R., C.M.W., S.N.G., L.B.K.); Department of Ophthalmology (A.D.); Division of Neurogenetics (NJA, CS); Department of Ophthalmology (L.J.B., S.G., S.N.G.); Department of Population Health (L.J.B.); Department of Radiology (M.B.), NYU Grossman School of Medicine, New York, NY; Department of Neurosciences (J.G.), University of California, San Diego; Department of Pathology (C.M.), Weill Cornell Medicine, New York, NY; Department of Neurology (S.D.N.), Johns Hopkins University, Baltimore, MD; Departments of Pediatrics (J.P.) and Pathology (C.M.W.), NYU Grossman School of Medicine, New York, NY; and Department of Neurology (S.S.Z.), University of California, San Francisco.

Scott D Newsome (SD)

From the Department of Neurology (K.A.O., A.D., N.J.A., L.J.B., S.G., I.K., C.M., J.R., C.M.W., S.N.G., L.B.K.); Department of Ophthalmology (A.D.); Division of Neurogenetics (NJA, CS); Department of Ophthalmology (L.J.B., S.G., S.N.G.); Department of Population Health (L.J.B.); Department of Radiology (M.B.), NYU Grossman School of Medicine, New York, NY; Department of Neurosciences (J.G.), University of California, San Diego; Department of Pathology (C.M.), Weill Cornell Medicine, New York, NY; Department of Neurology (S.D.N.), Johns Hopkins University, Baltimore, MD; Departments of Pediatrics (J.P.) and Pathology (C.M.W.), NYU Grossman School of Medicine, New York, NY; and Department of Neurology (S.S.Z.), University of California, San Francisco.

ORCID: 0000-0002-5284-4681

John Pappas (J)

From the Department of Neurology (K.A.O., A.D., N.J.A., L.J.B., S.G., I.K., C.M., J.R., C.M.W., S.N.G., L.B.K.); Department of Ophthalmology (A.D.); Division of Neurogenetics (NJA, CS); Department of Ophthalmology (L.J.B., S.G., S.N.G.); Department of Population Health (L.J.B.); Department of Radiology (M.B.), NYU Grossman School of Medicine, New York, NY; Department of Neurosciences (J.G.), University of California, San Diego; Department of Pathology (C.M.), Weill Cornell Medicine, New York, NY; Department of Neurology (S.D.N.), Johns Hopkins University, Baltimore, MD; Departments of Pediatrics (J.P.) and Pathology (C.M.W.), NYU Grossman School of Medicine, New York, NY; and Department of Neurology (S.S.Z.), University of California, San Francisco.

Janet Rucker (J)

From the Department of Neurology (K.A.O., A.D., N.J.A., L.J.B., S.G., I.K., C.M., J.R., C.M.W., S.N.G., L.B.K.); Department of Ophthalmology (A.D.); Division of Neurogenetics (NJA, CS); Department of Ophthalmology (L.J.B., S.G., S.N.G.); Department of Population Health (L.J.B.); Department of Radiology (M.B.), NYU Grossman School of Medicine, New York, NY; Department of Neurosciences (J.G.), University of California, San Diego; Department of Pathology (C.M.), Weill Cornell Medicine, New York, NY; Department of Neurology (S.D.N.), Johns Hopkins University, Baltimore, MD; Departments of Pediatrics (J.P.) and Pathology (C.M.W.), NYU Grossman School of Medicine, New York, NY; and Department of Neurology (S.S.Z.), University of California, San Francisco.

Connolly Steigerwald (C)

From the Department of Neurology (K.A.O., A.D., N.J.A., L.J.B., S.G., I.K., C.M., J.R., C.M.W., S.N.G., L.B.K.); Department of Ophthalmology (A.D.); Division of Neurogenetics (NJA, CS); Department of Ophthalmology (L.J.B., S.G., S.N.G.); Department of Population Health (L.J.B.); Department of Radiology (M.B.), NYU Grossman School of Medicine, New York, NY; Department of Neurosciences (J.G.), University of California, San Diego; Department of Pathology (C.M.), Weill Cornell Medicine, New York, NY; Department of Neurology (S.D.N.), Johns Hopkins University, Baltimore, MD; Departments of Pediatrics (J.P.) and Pathology (C.M.W.), NYU Grossman School of Medicine, New York, NY; and Department of Neurology (S.S.Z.), University of California, San Francisco.

Christopher M William (CM)

From the Department of Neurology (K.A.O., A.D., N.J.A., L.J.B., S.G., I.K., C.M., J.R., C.M.W., S.N.G., L.B.K.); Department of Ophthalmology (A.D.); Division of Neurogenetics (NJA, CS); Department of Ophthalmology (L.J.B., S.G., S.N.G.); Department of Population Health (L.J.B.); Department of Radiology (M.B.), NYU Grossman School of Medicine, New York, NY; Department of Neurosciences (J.G.), University of California, San Diego; Department of Pathology (C.M.), Weill Cornell Medicine, New York, NY; Department of Neurology (S.D.N.), Johns Hopkins University, Baltimore, MD; Departments of Pediatrics (J.P.) and Pathology (C.M.W.), NYU Grossman School of Medicine, New York, NY; and Department of Neurology (S.S.Z.), University of California, San Francisco.

Scott S Zamvil (SS)

From the Department of Neurology (K.A.O., A.D., N.J.A., L.J.B., S.G., I.K., C.M., J.R., C.M.W., S.N.G., L.B.K.); Department of Ophthalmology (A.D.); Division of Neurogenetics (NJA, CS); Department of Ophthalmology (L.J.B., S.G., S.N.G.); Department of Population Health (L.J.B.); Department of Radiology (M.B.), NYU Grossman School of Medicine, New York, NY; Department of Neurosciences (J.G.), University of California, San Diego; Department of Pathology (C.M.), Weill Cornell Medicine, New York, NY; Department of Neurology (S.D.N.), Johns Hopkins University, Baltimore, MD; Departments of Pediatrics (J.P.) and Pathology (C.M.W.), NYU Grossman School of Medicine, New York, NY; and Department of Neurology (S.S.Z.), University of California, San Francisco.

ORCID: 0000-0003-2720-9915

Scott N Grossman (SN)

From the Department of Neurology (K.A.O., A.D., N.J.A., L.J.B., S.G., I.K., C.M., J.R., C.M.W., S.N.G., L.B.K.); Department of Ophthalmology (A.D.); Division of Neurogenetics (NJA, CS); Department of Ophthalmology (L.J.B., S.G., S.N.G.); Department of Population Health (L.J.B.); Department of Radiology (M.B.), NYU Grossman School of Medicine, New York, NY; Department of Neurosciences (J.G.), University of California, San Diego; Department of Pathology (C.M.), Weill Cornell Medicine, New York, NY; Department of Neurology (S.D.N.), Johns Hopkins University, Baltimore, MD; Departments of Pediatrics (J.P.) and Pathology (C.M.W.), NYU Grossman School of Medicine, New York, NY; and Department of Neurology (S.S.Z.), University of California, San Francisco.

ORCID: 0000-0001-7033-5226

Lauren B Krupp (LB)

From the Department of Neurology (K.A.O., A.D., N.J.A., L.J.B., S.G., I.K., C.M., J.R., C.M.W., S.N.G., L.B.K.); Department of Ophthalmology (A.D.); Division of Neurogenetics (NJA, CS); Department of Ophthalmology (L.J.B., S.G., S.N.G.); Department of Population Health (L.J.B.); Department of Radiology (M.B.), NYU Grossman School of Medicine, New York, NY; Department of Neurosciences (J.G.), University of California, San Diego; Department of Pathology (C.M.), Weill Cornell Medicine, New York, NY; Department of Neurology (S.D.N.), Johns Hopkins University, Baltimore, MD; Departments of Pediatrics (J.P.) and Pathology (C.M.W.), NYU Grossman School of Medicine, New York, NY; and Department of Neurology (S.S.Z.), University of California, San Francisco.

ORCID: 0000-0001-7003-807X

Classifications MeSH