Introduction: We present a rare case of acute immune-mediated polyradiculoneuritis, a Guillain-Barré Syndrome (GBS) variant, manifesting as ophthalmoparesis-ataxia, facial diplegia, and acute bulbar palsy, accompanied by a unique autoimmune profile.
Clinical Case: A 75-year-old female developed rapidly progressive symptoms, including bilateral non-reactive mydriasis, ptosis, complete ophthalmoplegia, bilateral facial weakness, tongue immobility, palatal paralysis, limb dysmetria, ataxia, and brisk generalized tendon reflexes, all while maintaining a preserved mental state. Symptoms emerged 10 days after a probable gastrointestinal infection.
Neurol Neuroimmunol Neuroinflamm
March 2025
Background And Objectives: The optimal immunosuppressive treatment for autoimmune chronic intestinal pseudo-obstruction (CIPO) is unknown due to lack of clinical trials. Even less data exist on treatment recommendations for patients who do not respond to first-line immunotherapy.
Methods: We describe 4 patients with autoimmune CIPO treated with vedolizumab (3/4), a monoclonal antibody that interferes the lymphocyte trafficking to the gastrointestinal tract, or rituximab (1/4) who did not respond to steroids or IV immunoglobulins.
Background: The development of new biomarkers is essential to improve diagnostic accuracy and guide treatment decisions in chronic inflammatory demyelinating polyradiculoneuropathy (CIDP). The aim of this study was to investigate the utility of the serum neurofilament light chain (sNfL) level as a marker for disability and response to immunomodulatory treatment in patients with CIDP.
Methods: This prospective, single-center, observational study included 38 patients with CIDP: 19 treatment-naive (CIDP-I) patients assessed before and after the initiation of immunomodulatory therapy and 19 stable patients on maintenance immunoglobulins (CIDP-M).
Introduction/objective: Biallelic expansion of the pentanucleotide AAGGG in the RFC1- gene is associated with cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS). This study aimed to comprehensively characterise this condition by conducting an in-depth neurophysiological examination of afflicted patients.
Methods: A retrospective analysis was conducted in 31 RFC1-positive patients.