Saruta Wakiko, Shibahara Ichiyo, Handa Hajime, Inukai Madoka, Kanayama Shunsuke, Yasumoto Ryoma, Sakurai Keizo, Akiyama Hisanao, Ishikawa Hitoshi, Sato Sumito, Hide Takuichiro, Kumabe Toshihiro
Departments of Neurosurgery and.
Ophthalmology, Kitasato University School of Medicine, Sagamihara, Kanagawa, Japan.
J Neurosurg Case Lessons. 2021 Jun 28;1(26):CASE21161. doi: 10.3171/CASE21161.
Leber's hereditary optic neuropathy (LHON) is a mitochondrial disease characterized by bilateral severe subacute central vision loss and a mutation in the mitochondrial DNA (mtDNA). The findings on cranial magnetic resonance imaging of patients with LHON vary from subtle to multiple white matter changes. However, they rarely present with diffuse infiltrative white matter changes.
The authors reported a case with diffuse white matter changes mimicking gliomatosis cerebri (GC). The histological findings included only mild glial hyperplasia without immunohistochemical positivity, supporting the diagnosis of glial tumors. Analysis of mtDNA obtained from the blood and brain tissue revealed mutation of m.11778G>A in the NADH dehydrogenase 4 gene, which confirmed the case as LHON. Immunohistochemistry of the brain tissue revealed 8-hydroxy-2'-deoxyguanosine positivity, suggesting the presence of oxidative stress.
LHON is extremely difficult to diagnose unless one suspects or knows the disease. The present case brings attention not only to LHON but also to other mtDNA-mutated diseases that need to be considered with diffuse white matter changes or GC.
Leber遗传性视神经病变（LHON）是一种线粒体疾病，其特征为双侧严重亚急性中心视力丧失以及线粒体DNA（mtDNA）突变。LHON患者的头颅磁共振成像表现从轻微到多发白质改变不等。然而，他们很少出现弥漫性浸润性白质改变。
作者报告了一例表现为弥漫性白质改变、酷似大脑胶质瘤病（GC）的病例。组织学检查结果仅显示轻度胶质细胞增生，免疫组化无阳性表现，支持胶质细胞瘤的诊断。对血液和脑组织中获取的mtDNA进行分析，发现烟酰胺腺嘌呤二核苷酸脱氢酶4基因存在m.11778G>A突变，这证实该病例为LHON。脑组织免疫组化显示8-羟基-2'-脱氧鸟苷阳性，提示存在氧化应激。
除非怀疑或了解该疾病，否则LHON极难诊断。本病例不仅引起了对LHON的关注，也引起了对其他需要与弥漫性白质改变或GC相鉴别的mtDNA突变疾病的关注。
