Possible Combined Central and Peripheral Demyelination Presenting as Optic Neuritis, Cervical Myelitis, and Demyelinating Polyneuropathy with Marked Nerve Hypertrophy

Abstract

A 27-year-old woman with optic neuritis and cervical myelitis developed hypertrophic demyelinating polyneuropathy. It was hypothesized that the diagnosis was combined central and peripheral demyelination. A hypertrophic nerve was observed subcutaneously, and magnetic resonance imaging demonstrated marked hypertrophy of the nerve roots. The patient was negative for anti-aquaporin 4 antibodies. Her anti-neurofascin 155 antibody levels was slightly elevated, but it was not definitely positive. Pulsed steroid therapy and the administration of immunoglobulin ameliorated her symptoms. Molecules in both the peripheral and central nervous systems might be target antigens, but further investigations will be needed to clarify the precise pathogenic mechanisms.

Keywords: chronic inflammatory demyelinating polyneuropathy; combined central and peripheral demyelination; multiple sclerosis; neurofascin.

Figure 1.

T2-weighted MRI showed a high-intensity signal in the cervical cord (A: sagittal view, B: axial view), which was partially enhanced on gadolinium-DTPA T1-weighted MRI (C: sagittal view, D: axial view). The patient was 23 years of age.

Figure 2.

A hypertrophic nerve in the subcutaneous area of the patient’s right neck was observed. The patient was 27 years of age.

Figure 3.

Nerve conduction studies showed a marked delay (A: right median nerve, conduction velocity [CV] 14.7 m/s, B: left ulnar nerve, CV 10.5 m/s), and prominent temporal dispersion.

Figure 4.

T2-weighted cervical MRI demonstrates homogenous swelling and strong signals in the nerve roots (A, B: coronal view, C: axial view). The patient was 27 years of age.

Figure 5.

T1-weighted MRI showed marked homogenous swelling of the lumbar roots (A: coronal view). T2-weighted MRI showed hypertrophy of the cauda equina (B: sagittal view) and hypertrophic nerves outside the canal that appeared as grape-like clusters (C: axial view). The patient was 27 years of age.