{Reference Type}: Journal Article
{Title}: Relapsing White Matter Disease and Subclinical Optic Neuropathy: From the National Multiple Sclerosis Society Case Conference Proceedings
{Author}: O'Neill KA;Dugue A;Abreu NJ;Balcer LJ;Branche M;Galetta S;Graves J;Kister I;Magro C;Miller C;Newsome SD;Pappas J;Rucker J;Steigerwald C;William CM;Zamvil SS;Grossman SN;Krupp LB;
{Journal}: Neurol Neuroimmunol Neuroinflamm
{Volume}: 11
{Issue}: 2
{Year}: 2024 03
{Factor}: 11.36
{DOI}: 10.1212/NXI.0000000000200194
{Abstract}: 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.