Pan-neurofascin Autoimmune Nodoparanodopathy: A Case Report and Literature Review

Overview

Journal Medicine (Baltimore)

Date 2025 Jan 24

PMID 39854764

Authors

Elsa Krim

Alexandre Masri

Emilien Delmont

Gwendal Le Masson

Joseph Boucraut

Stephane Mathis

Affiliations

Soon will be listed here.

Abstract

Rationale: Locked-in syndrome (and its variant, completely locked-in state) generally has a high mortality rate in the acute setting; however, when induced by conditions such as acute inflammatory polyradiculoneuropathy, it may well be curable such that an attempt at cure should be systematically sought by clinicians.

Patient Concerns: A 52-year-old man presented with acute tetraparesia and areflexia, initially diagnosed as Guillain-Barré syndrome. Despite appropriate treatment, his condition deteriorated, evolving into a completely locked-in state.

Diagnoses: The detection of anti-pan-neurofascin antibodies led to the correct diagnosis, acute pan-neurofascin autoimmune nodoparanodopathy.

Interventions: Immunosuppressive treatment (rituximab) and plasma exchanges were performed.

Outcomes: After several months, the patient's neurological symptoms almost completely subsided, without any major sequelae.

Lessons: In patients with locked-in syndrome (or its variant), neurologists and intensive care physicians must be aware of, and look for, the main etiologies (including pan-neurofascin autoimmune nodoparanodopathy), to allow the prompt initiation of treatment and thus a rapid recovery for these ultimately curable conditions. Despite causing major disability, pan-neurofascin autoimmune nodoparanodopathy is curable if the appropriate treatment is given.

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