Steroid-responsive neurologic relapses in a child with a proteolipid protein-1 mutation.
case_report · Level V
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Abstract
A 10-year-old boy developed corticosteroid-responsive relapsing neurologic signs, including nystagmus and ataxia. MRI revealed multifocal T2 white matter hyperintensities; several were gadolinium-enhancing. CSF contained oligoclonal bands. Although the patient met criteria for multiple sclerosis (MS), the proteolipid protein-1 gene (PLP1) contained a mutation in exon 3B (c.409C>T), predicting a tryptophan-for-arginine substitution. This case raises questions about the role of inflammation in PLP1-related disorders and, conversely, PLP1 mutations in MS.
Medical subject headings
- Genetic Predisposition to Disease
- Membrane Proteins
- Multiple Sclerosis, Relapsing-Remitting
- Mutation
- Myelin Proteolipid Protein
- Steroids