Leber 遗传性视神经病变伴多发性硬化样病合并 m.11778G>A 突变患者的视神经萎缩和全脑及区域性脑萎缩。

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.

机构信息

Department of Neurology, The Holy Family Specialist Hospital, Rudna Mala, Rzeszow,Poland; Institute of Nursing and Health Sciences, University of Rzeszow, Poland.

Neurology Clinic with Brain Stroke Sub-Unit, Clinical Hospital No. 2, Rzeszow, Poland; Medical Faculty, University of Rzeszow, Poland.

出版信息

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

DOI:10.1016/j.msard.2020.102071

PMID:32387972

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.

摘要

Leber 遗传性视神经病变（LHON）是一种母系遗传的线粒体视神经退行性变，伴有双侧视神经萎缩。它与多发性硬化症（MS）样疾病（LHON-MS）共存的情况很少见，也被称为 Harding 综合征。LHON-MS 的存在使与 MS 相关的视神经炎的诊断变得复杂，这可能会延迟正确的诊断和必要的治疗。在这里，我们报告了一名 LHON-MS 患者的视神经萎缩，该患者同时伴有严重的全脑和区域性脑萎缩。此外，我们还回顾了关于这种罕见临床实体的现有文献。