Report of a fulminant anti‐<scp>pan‐neurofascin</scp>‐associated neuropathy responsive to rituximab and bortezomib
Miriam Fels, Anna Lena Fisse, Carolin Schwake, Jeremias Motte, Diamantis Athanasopoulos, Thomas Grüter, Marie Spenner, Thomas Breuer, Katharina Starz, David Heinrich, Martin Grond, Kathy Keyvani, Luise Appeltshauser, Kathrin Doppler, Claudia Sommer, Ilya Ayzenberg, Christiane Schneider‐Gold, Ralf Gold, Kalliopi Pitarokoili, Adnan Labedi
Abstract
Inflammatory neuropathies with pathogenic involvement of the nodes of Ranvier through autoantibodies have been increasingly characterized in the past years. The so-called anti-pan-NF-associated neuropathies caused by the simultaneous existence of anti-Neurofascin-186/-140 and -155-antibodies are extremely rare and cause life-threatening symptoms. Therapeutic strategies are needed as symptoms may be life-threatening and may not respond to standard first-line CIDP treatment. We report a case of a 52-year-old male with a rare anti-pan-neurofascin (NF) (-155, -186/-140)-associated neuropathy. The initial presentation was subacute with mild paresthesia leading to a fulminant "locked-in"-like syndrome requiring mechanical ventilation within the first eight weeks despite treatment with intravenous immunoglobulins. Nerve conduction studies revealed non-excitable nerves with acute spontaneous activity in electromyography. High titers of anti-Neurofascin-155, -186/-140-antibodies were detected in serum and cerebrospinal fluid. A combination of aggressive immunotherapy consisting of intravenous immunoglobulins, plasma exchange, rituximab and bortezomib resulted in clinical improvement with ambulation and non-detectable anti-neurofascin-antibodies within the following 3 months. The follow-up nerve conduction studies showed normalized amplitudes of the peripheral nerves with signs of reinnervation in electromyography. We conclude that an early aggressive immunotherapy consisting of a combination of rituximab and bortezomib could be considered as a therapeutic option for anti-pan-NF-associated neuropathies.