Case Report: Combined central and peripheral nerve demyelination with neurofilament heavy chain antibodies

TL;DR

A rare case of combined central and peripheral nerve demyelination is reported in a patient with specific antibodies, showing improvement with corticosteroid and cyclophosphamide treatment.

Contribution

This case report highlights the rare association of NF-H-IgG antibodies with CCPD and successful treatment with corticosteroids and cyclophosphamide.

Findings

A patient with CCPD tested positive for NF-H-IgG antibodies in both CSF and serum.

The patient showed marked clinical improvement after treatment with corticosteroids and cyclophosphamide.

Electrophysiological evaluations indicated demyelinating peripheral neuropathy with secondary axonal involvement.

Abstract

Combined central and peripheral demyelination (CCPD) is a rare chronic demyelinating disorder. Neurofilament (NF) proteins are structural components specific to neuronal intermediate filaments within axons. The presence of anti-neurofilament antibodies is typically associated with axonal pathology and is seldom observed in patients with CCPD. We present a case of CCPD in a patient who tested positive for immunoglobulin G (IgG) antibodies against the neurofilament heavy chain (NF-H-IgG) in both cerebrospinal fluid (CSF) and serum. Since 2019, the patient has exhibited a constellation of neurological symptoms, including severe neck and shoulder pain, left-sided limb weakness, distal extremity numbness, left-eye visual blurring, and impaired deep sensation. Electrophysiological and clinical evaluations indicated a primarily demyelinating peripheral neuropathy with secondary axonal involvement. Following treatment with low-dose corticosteroids in combination with cyclophosphamide (CTX), the patient demonstrated marked clinical improvement.

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