Clinical Profile, Electrophysiology, and Short-Term Outcomes of Pediatric-Onset Autoimmune Nodopathy-A Case Series.
Kiran Anand, Anvitha Rallapalli, Renu Suthar et al.
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Case in brief
The report describes three children with autoimmune nodopathy associated with antibodies to neurofascin 140, alone or with neurofascin 186. Presentations ranged from acute asymmetric sensorimotor polyneuropathy in a boy with nephrotic syndrome to chronic progressive distal weakness, including one child with bulbar involvement. All had bilateral upper-limb tremors. Electrophysiology showed non-length-dependent mixed axonal and demyelinating sensorimotor neuropathy; biopsies showed axonal and mild myelin loss, with lymphocytic infiltration in one case. Treatment regimens varied and included immunotherapies; all three had graded clinical responses, with improved INCAT disability scores.
What made this case unusual
The combination of bilateral upper-limb tremor across all three children, varied progression, and mixed axonal-demyelinating electrophysiology highlights a pediatric presentation that may resemble other neuropathies.
Diagnostic / clinical pearl
In children with progressive sensorimotor neuropathy, tremor, bulbar involvement, or subacute worsening may prompt consideration of autoimmune nodopathy and antibody testing, rather than assuming CIDP or Charcot-Marie-Tooth disease.