A rare case of combined central and peripheral demyelination associated with neurofascin-155 IgG antibody: Distinctive MRI findings

Abstract

Combined central and peripheral demyelination (CCPD) is a rare neurological disorder characterized by both central nervous system (CNS) and peripheral nervous system (PNS) demyelination. Its clinical heterogeneity and overlapping features with multiple sclerosis and chronic inflammatory demyelinating polyradiculoneuropathy make diagnosis challenging. We report a 19-year-old man who presented with progressive limb numbness, sensory ataxia, tremor, and unsteady gait. Nerve conduction studies indicated sensorimotor polyneuropathy with axonal changes, and brain MRI revealed abnormal diffusion-weighted imaging signals in multiple white matter regions, with characteristic Dawson fingers on T2-weighted imaging. Serum was positive for neurofascin-155 antibodies, confirming the diagnosis of CCPD. This case highlights the importance of considering CCPD in patients with overlapping CNS and PNS demyelinating features.