Rapid recovery after four months of near-tetraplegia: A case report of pan-neurofascin nodopathy and a brief review of emerging questions

Abstract

Objective

Pan-neurofascin nodopathy is a rare form of dysimmune neuropathies, mediated by antibodies against the common epitope of the 140, 155 and 186 neurofascin isoforms. These autoantibodies cause the defect of saltatory action potential spreading, disorganization of the nodal-paranodal ultrastructure, and axonal loss of variable degree.

Methods

A 32-year old male presented with the typical symptom of acute onset severe tetraparesis. Electrophysiological findings indicated severe conduction failure, but no appreciable axonal loss. High-resolution ultrasound showed diffuse, but patchy pathology, including mild enlargement and abnormal fascicular structure in proximal arm nerves and the brachial plexus. Symptoms worsened despite plasma exchange, and showed only mild and transient improvement upon repeated intravenous immunoglobulin treatment.

Results

After the verification of pan-neurofascin antibodies, rituximab treatment was applied and we observed rapid improvement within weeks, leading to complete remission at 6 weeks.

Conclusions

A young male with pan-neurofascin nodopathy presenting as acute-onset symptoms resembling Guillain–Barré syndrome, became asymptomatic following 4 months of near-tetraplegia as a result of rituximab therapy.

Significance

In pan-neurofascin nodopathy, rituximab treatment can lead to complete reversal of symptoms, even in cases characterized by prolonged and severe clinical manifestations. We also provide one of the first ultrasound descriptions of a pan-neurofascin case.