Leber’s hereditary optic neuropathy associated with a multiple-sclerosis-like picture in a man

Author:

La Russa Antonella1,Cittadella Rita1,Andreoli Virginia1,Valentino Paola2,Trecroci Francesca1,Caracciolo Manuela1,Gallo Olivier1,Gambardella Antonio12,Quattrone Aldo12

Affiliation:

1. Institute of Neurological Sciences, National Research Council, Mangone, Cosenza, Italy.

2. Institute of Neurology, University Magna Graecia, Catanzaro, Italy.

Abstract

A 35-year-old young man displayed Leber’s optic neuropathy (LHON) due to T14484C and multiple sclerosis (MS) phenotype that was dominated by symptoms and signs of spinal cord impairment. Magnetic resonance imaging (MRI) revealed demyelinating lesions extending from D6 to D11 in the spinal cord with gadolinium enhancement, while only three linear demyelinating lesions were seen on brain MRI. In the literature, a major involvement of the spinal cord was already reported in three of four male patients with the 14484 LHON mutation who developed MS, but the reasons of this peculiar association remain unknown, and further research in this area is needed.

Publisher

SAGE Publications

Subject

Clinical Neurology,Neurology

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