Atypical inflammatory demyelinating syndrome with central and peripheral nerve involvement

Area of Science:

• Neuroimmunology
• Neurology
• Genetics

Background:

• Chronic inflammatory demyelinating polyneuropathy (CIDP) typically affects the peripheral nervous system.
• Multiple sclerosis (MS) is a central nervous system demyelinating disease with a relapsing-remitting course.
• Combined central and peripheral demyelination (CCPD) is a rare clinical presentation.

Observation:

• A patient presented with optic neuritis, brainstem syndrome (ataxia, dysarthria, eye movement disorder, visual disturbance, urinary incontinence), and tumefactive lesions fulfilling McDonald criteria for MS.
• The patient had negative serological markers for aquaporin-4 (AQP-4) and myelin oligodendrocyte glycoprotein (MOG) antibodies, and matched oligoclonal bands (OCBs).
• Genetic analysis revealed uncertain significance variants in DYNC1H1 and SH3TC2, genes associated with Charcot-Marie-Tooth (CMT) disease, though no known CMT mutations were present.

Findings:

• The patient exhibited a relapsing-remitting disease course with both central and peripheral demyelination.
• Initial treatment with steroids and intravenous immunoglobulin (IVIg) was poorly effective.
• Aggressive immunomodulatory therapy, including pulsed steroids, plasmapheresis, and Rituximab, resulted in clinical improvement.

Implications:

• This case highlights the diagnostic and therapeutic challenges of CCPD.
• Autoimmune mechanisms are implicated in CCPD pathogenesis, though the exact relationship between central and peripheral nervous system involvement requires further investigation.
• Effective management may involve aggressive immunomodulatory strategies, offering a potential pathway to minimize disability in CCPD patients.