Describe the clinical presentation, diagnostic process, and treatment outcomes in a patient with combined central and peripheral demyelination (CCPD). 

CCPD presents unique clinical challenges as it can lead to a spectrum of neurological symptoms that are seen in both multiple sclerosis (MS) and chronic inflammatory demyelinating polyradiculoneuropathy (CIDP), thus complicating diagnosis and treatment. This case report highlights a 38-year-old woman whose presentation illustrates the complexities of diagnosing and managing this rare condition.

We report the case of a 38-year-old woman presenting with progressive neurological symptoms, including visual disturbances, ataxia, weakness, and sensory symptoms. She first developed these symptoms when she was 8 years old and had been diagnosed with MS and CIDP. She had previously tried IVIG without benefit and was maintained on chronic high-dose dexamethasone. Comprehensive diagnostic evaluations were conducted, including MRI and electrodiagnostic studies.

Brain MRI revealed multiple non-enhancing lesions consistent with demyelination in the central nervous system. Electrodiagnostic studies showed evidence of acquired demyelination. It was determined that the presence of both central and peripheral demyelination was more consistent with CCPD rather than two separate diagnoses. Rituximab was added to the treatment regimen with a plan to taper steroids. In addition, a neurofascin-155 antibody panel was sent for further workup of CCPD.

This case demonstrates the importance of considering CCPD in patients presenting with neurological symptoms and findings of demyelination of both the central and peripheral nervous system. Early recognition and appropriate management of suspected CCPD can lead to improved patient outcomes. Further research is crucial to explore the underlying mechanisms of this disease and optimize treatment strategies for patients with CCPD.