Abstract
BACKGROUND: Autoantibodies targeting node of Ranvier proteins are rarely reported in China. CASE PRESENTATION: We present the case of a 66-year-old Chinese man who concomitantly developed chronic inflammatory demyelinating polyneuropathy with anti-contactin-associated protein 1 antibody and bile duct hamartomas in liver, which are rarely reported in China. The man presented with chronic progressive sensory and motor symptoms, bilateral periphery facial paralysis, and protein-cell dissociation of cerebrospinal fluid. Nerve conduction study indicated demyelinating neuropathy. Enhanced magnetic resonance imaging of the liver showed diffuse intrahepatic lesions, which were considered as bile duct hamartomas in the liver. He was suspected as having chronic inflammatory demyelinating polyneuropathy and treated with intravenous immunoglobulin and prednisone. However, his condition got worse. One month later, he was diagnosed with chronic inflammatory demyelinating polyneuropathy associated with anti-contactin-associated protein 1 antibody. He received high-dose methylprednisolone, followed by standard plasma exchange and rituximab therapy. His sensory and motor manifestations were significantly improved at 1 year of follow-up. CONCLUSIONS: This case reminds clinicians to be aware of antiparanodal antibodies, which are associated with specific phenotypes and therapeutic response.