TY - JOUR
T1 - Relapsing White Matter Disease and Subclinical Optic Neuropathy From the National Multiple Sclerosis Society Case Conference Proceedings
AU - O'Neill, Kimberly A.
AU - Dugue, Andrew
AU - Abreu, Nicolas J.
AU - Balcer, Laura J.
AU - Branche, Marc
AU - Galetta, Steven
AU - Graves, Jennifer
AU - Kister, Ilya
AU - Magro, Cynthia
AU - Miller, Claire
AU - Newsome, Scott D.
AU - Pappas, John
AU - Rucker, Janet
AU - Steigerwald, Connolly
AU - William, Christopher M.
AU - Zamvil, Scott S.
AU - Grossman, Scott N.
AU - Krupp, Lauren B.
N1 - Publisher Copyright:
© 2024 The Author(s).
PY - 2024/3
Y1 - 2024/3
N2 - 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.
AB - 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.
UR - https://www.scopus.com/pages/publications/85181633617
U2 - 10.1212/NXI.0000000000200194
DO - 10.1212/NXI.0000000000200194
M3 - Article
C2 - 38181317
AN - SCOPUS:85181633617
SN - 2332-7812
VL - 11
JO - Neurology: Neuroimmunology and NeuroInflammation
JF - Neurology: Neuroimmunology and NeuroInflammation
IS - 2
M1 - e200194
ER -