Case Report: Unilateral Optic Atrophy and Intracranial Hypertension in Anti-NF155 Nodopathy Trea

02 Apr 20264 min read0 viewsJournal Feed

GIST

BackgroundAutoimmune nodopathy (AN) associated with anti-neurofascin-155 (NF155) antibodies is a distinct disorder characterized by treatment-resistant peripheral neuropathy. Although central nervous system (CNS) involvement is theorized due to the presence of NF155 in oligodendrocytes, definitive clinical reports remain limited.Case presentationA 31-year-old male presented with a seven-year history of relapsing-remitting progressive sensorimotor neuropathy, tremor, and sensory ataxia.

He was initially diagnosed with chronic inflammatory demyelinating polyneuropathy (CIDP) and demonstrated a partial response to intravenous immunoglobulin (IVIG) and steroids. Three years after being diagnosed, he developed unilateral visual loss that progressed to no light perception accompanied by an episode of acutely elevated intraocular pressure without typical symptoms of acute glaucoma.

Neurological examination revealed anisocoria, left optic atrophy, pseudoathetosis, and distal sensory deficits. Investigations confirmed markedly elevated cerebrospinal fluid (CSF) protein levels (>3 g/L) and opening pressure (335 mmH2O).

Both serum and CSF tested positive for anti-NF155 antibodies (titers 1:1000 and 1:32, respectively), which led to a revised diagnosis of AN. MRI of the plexus exhibited hypertrophic radiculopathy.Management and outcomesEfgartigimod, an FcRn antagonist, was initiated as an induction therapy.

Clinical Editorial

Summary

Unilateral optic atrophy with intracranial hypertension in anti-NF155 nodopathy: a sequential therapeutic perspective

Context and patient profile

Initial diagnosis of chronic inflammatory demyelinating polyneuropathy (CIDP) was followed by partial responses to intravenous immunoglobulin and corticosteroids.

CSF analysis showed markedly elevated protein levels (>3 g/L) with a simultaneous high opening pressure (335 mm H2O).

Antibody testing revealed anti-NF155 positivity in both serum and CSF (titers 1:1000 and 1:32, respectively), prompting a revised diagnosis of autoimmune nodopathy (AN) associated with anti-NF155.

A 31-year-old man presented with a seven-year history of relapsing-remitting sensorimotor neuropathy, tremor, and sensory ataxia.
Progressive central involvement emerged with unilateral visual loss culminating in no light perception, accompanied by an episode of acutely elevated intraocular pressure lacking classic acute glaucoma symptoms.
Neurological examination demonstrated anisocoria, left optic atrophy, pseudoathetosis, and distal sensory deficits.

Imaging and diagnostic context

The combination of CNS signal involvement with peripheral nerve pathology raised consideration of anti-NF155 nodopathy as the underlying mechanism rather than isolated CIDP.

MRI of the plexus indicated hypertrophic radiculopathy, supporting the broader demyelinating/inflammatory process.

Therapeutic approach and sequence of interventions

Clinically, this regimen was associated with improvement in inflammatory neuropathy symptoms, reflected by a reduction in the INVENT INCAT score from 4 to 3.

Over a one-year follow-up, the patient’s INCAT score improved further to 1, indicating sustained neurological improvement.

Induction strategy employed efgartigimod, an FcRn antagonist, administered as four weekly doses.
Given partial early response and a transition to maintenance therapy, treatment was shifted to rituximab.
Despite systemic neurological gains, the documented left eye vision did not recover, with persistent visual impairment despite systemic improvement.

Key implications and interpretation

The case highlights that anti-NF155 nodopathy can present with severe CNS complications, including optic atrophy and intracranial hypertension, potentially arising from direct antibody-mediated effects and CSF dynamic disturbances.
An acute intraocular hypertension event may act as an additional insult contributing to irreversible visual deficit.
The report supports the value of antibody-specific testing in atypical CIDP presentations, as such identification can refine diagnosis and inform management strategies.
A sequential treatment paradigm—rapid induction with efgartigimod followed by longer-term maintenance with rituximab—appears feasible and associated with meaningful functional neurological recovery in this context, though it did not alter the course of established vision loss.