Report of a fulminant anti–pan‐Neurofascin‐associated neuropathy responsive to Rituximab and Bortezomib

Aims

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 threating symptoms. Therapeutic strategies are needed as symptoms may be life-threatening and may not respond to standard first-line CIDP treatment.

Methods

We report a case of a 52-year-old male with a rare anti-pan-Neurofascin (NF) (-155, -186/-140)-associated neuropathy.

Results

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 three months. The follow-up nerve conduction studies showed normalized amplitudes of the peripheral nerves with signs of reinnervation in electromyography.

Conclusion

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.

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