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Published on: April 14, 2014
Relapsing White Matter Disease and Subclinical Optic Neuropathy: From the National Multiple Sclerosis Society Case
Kimberly A O'Neill1, Andrew Dugue1, Nicolas J Abreu1
1From 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.
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.
