Optic nerve atrophy and whole and regional brain atrophy in Leber's hereditary optic neuropathy with multiple sclerosis-like disease with m.11778G>A mutation

Iwona Rościszewska-Żukowska; Halina Bartosik-Psujek

doi:10.1016/j.msard.2020.102071

Optic nerve atrophy and whole and regional brain atrophy in Leber's hereditary optic neuropathy with multiple sclerosis-like disease with m.11778G>A mutation

Mult Scler Relat Disord. 2020 Jul:42:102071. doi: 10.1016/j.msard.2020.102071. Epub 2020 Apr 17.

Authors

Iwona Rościszewska-Żukowska¹, Halina Bartosik-Psujek²

Affiliations

¹ Department of Neurology, The Holy Family Specialist Hospital, Rudna Mala, Rzeszow,Poland; Institute of Nursing and Health Sciences, University of Rzeszow, Poland. Electronic address: iwona.rosciszewska@op.pl.
² Neurology Clinic with Brain Stroke Sub-Unit, Clinical Hospital No. 2, Rzeszow, Poland; Medical Faculty, University of Rzeszow, Poland.

PMID: 32387972
DOI: 10.1016/j.msard.2020.102071

Abstract

Leber's hereditary optic neuropathy (LHON) is a maternally inherited form of mitochondrial optic nerve degeneration with bilateral optic atrophy. Its coexistence with multiple sclerosis (MS)-like disease (LHON-MS) is rare and also known as Harding's syndrome. The presence of LHON-MS complicates the diagnosis of optic neuritis associated with MS, which can delay the correct diagnosis and necessary treatment. Here we report optic nerve atrophy in a patient with LHON-MS coexistent with severe global and regional brain atrophy. Furthermore, we also reviewed the available literature on this rare clinical entity.

Keywords: Brain atrophy; Harding's syndrome; LHON with MS-like disease; OCT.

Publication types

Case Reports

MeSH terms

Adult
Atrophy / pathology
Brain Diseases / diagnosis*
Female
Humans
Multiple Sclerosis / diagnosis*
Optic Atrophy, Hereditary, Leber / diagnosis*
Optic Neuritis / diagnosis*
Young Adult