Pearls & Oy-Sters: Pan-Neurofascin Nodo-Paranodopathy Presenting as Fulminant Guillain-Barré Syndrome.

Abstract

Autoimmune nodo-paranodopathy (AINP) associated with antibodies against pan-neurofascin (Ab-PanNF) is a rare subtype of autoimmune neuropathy. It can present as a severe, prolonged, and sometimes fatal disease. However, with appropriate treatment, it generally follows a monophasic course, and many patients achieve complete or near-complete recovery. Antibody-depleting therapy with rituximab (RTX) is currently the best therapeutic option. In this article, we report a patient with progressive weakness who was initially misdiagnosed with Guillain-Barré syndrome (GBS). Intravenous immunoglobulin (IVIg) led to partial improvement, but the patient deteriorated abruptly weeks later, developing tetraplegia, lower cranial nerve involvement, and dysautonomia. Eventually, a diagnosis of AINP with Ab-PanNF was reached, prompting the initiation of RTX. The patient improved dramatically and remains in remission. We discuss the pathophysiology underlying Ab-PanNF-mediated AINP, its clinical and electrodiagnostic features, and considerations regarding antibody testing and treatment. Specifically, red flags that should prompt early Ab-PanNF testing include age older than 60 years, severe and rapidly progressive GBS, prolonged mechanical ventilation, fulminant relapse after initial improvement, and resistance to standard treatments. Finally, we review the literature and summarize the main features of the 40 cases reported so far. Ab-PanNF-mediated AINP is a potentially life-threatening disease; its early recognition is of utmost importance because early antibody-depleting therapy significantly alters outcomes and can be lifesaving.