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
- magnetic resonance imaging
- high resolution
- young adults
- mental health
- quality improvement
- single cell
- combination therapy
- copy number
- magnetic resonance
- dna methylation
- chronic lymphocytic leukemia
- diffusion weighted imaging
- fine needle aspiration
- replacement therapy
- childhood cancer
- cerebrospinal fluid
- cerebral ischemia