Relapsing remitting multiple sclerosis in progressive external ophthalmoplegia: A report of two cases

Area of Science:

• Neurology
• Genetics
• Mitochondrial Biology

Background:

• Mitochondrial dysfunction is implicated in the pathophysiology of multiple sclerosis (MS).
• Existing research indicates a potential association between mitochondrial diseases and MS.
• The spectrum of mitochondrial disorders presenting with MS symptoms requires further definition.

Observation:

• This report presents two cases of patients with genetically confirmed progressive external ophthalmoplegia.
• Both patients independently fulfilled the McDonald criteria for a diagnosis of multiple sclerosis.
• These cases highlight a potential overlap between specific mitochondrial genetic mutations and MS.

Findings:

• The study identifies patients with a defined genetic basis for mitochondrial disease who also exhibit clinical and diagnostic features of MS.
• Progressive external ophthalmoplegia, a mitochondrial disorder, was observed in individuals diagnosed with MS.
• The findings underscore the need for a comprehensive understanding of the phenotypic variability in mitochondrial diseases associated with MS.

Implications:

• Characterizing the full range of mitochondrial diseases associated with MS can enhance diagnostic accuracy.
• A deeper understanding of this association may elucidate novel pathways in MS pathogenesis.
• Investigating the interplay between mitochondrial dysfunction and MS could lead to new therapeutic strategies.