Combined Central and Peripheral Demyelination: Two Case Reports

Area of Science:

• Neurology
• Neuroimmunology
• Demyelinating Diseases

Background:

• Combined central and peripheral demyelination (CCPD) is a rare condition affecting both the central nervous system (CNS) and peripheral nervous system (PNS).
• CCPD presents with heterogeneous clinical manifestations and lacks definitive diagnostic criteria.
• Demyelinating lesions in CCPD can occur in various CNS and PNS locations.

Observation:

• Neuroimaging (MRI) reveals demyelinating lesions in the brain, spinal cord, and optic nerves.
• Electromyography (EMG) shows characteristic findings such as reduced nerve conduction velocities and altered potentials.
• Anti-neurofascin (anti-NF) antibodies, targeting specific neurofascin polypeptides, can be detected in CCPD patients.

Findings:

• This study presents three CCPD cases diagnosed using clinical, neuroimaging, EMG, and anti-NF antibody data.
• The findings highlight the utility of anti-NF antibody testing in CCPD diagnosis.
• Alternative splicing of neurofascin (NF) produces multiple polypeptides, relevant for antibody investigations.

Implications:

• Identifying anti-NF antibodies is crucial for understanding the etiology of CCPD.
• Accurate diagnosis of CCPD aids in appropriate patient management and treatment strategies.
• Further research into anti-NF antibodies may refine diagnostic criteria for CCPD.