Relapsing White Matter Disease and Subclinical Optic Neuropathy: From the National Multiple Sclerosis Society Case Conference Proceedings
Kimberly A O'NeillAndrew DugueNicolas J AbreuLaura J BalcerMarc BrancheSteven L GalettaJennifer S GravesIlya KisterCynthia MagroClaire MillerScott D NewsomeJohn PappasJanet RuckerConnolly SteigerwaldChristopher M WilliamScott S ZamvilScott N GrossmanLauren B KruppPublished in: Neurology(R) neuroimmunology & neuroinflammation (2024)
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.
Keyphrases
- white matter
- multiple sclerosis
- contrast enhanced
- high resolution
- young adults
- magnetic resonance imaging
- mental health
- ultrasound guided
- computed tomography
- single cell
- magnetic resonance
- rheumatoid arthritis
- diffusion weighted imaging
- gene expression
- fine needle aspiration
- combination therapy
- systemic lupus erythematosus
- childhood cancer
- blood brain barrier
- fluorescence imaging
- cerebrospinal fluid
- subarachnoid hemorrhage