罕见线粒体基因双突变线粒体病一例并文献复习

doi:10.3969/j.issn.1672-6731.2025.10.011

摘要/Abstract

摘要：

目的: 报道1例线粒体基因双突变线粒体病病例，总结其临床、影像学、病理学和基因型特点。方法与结果: 天津市环湖医院2021年9月29日收治1例14岁男性患儿，双眼上睑下垂12年，行走不稳11年，视力下降8年，临床表现为眼外肌麻痹、视神经萎缩、锥体束损害、多发性周围神经病变；血清乳酸水平升高（3.30 mmol/L）；头部MRI提示双侧基底节区异常高信号；肌电图呈多发性周围神经病变（运动神经为主）；肱二头肌组织活检，HE染色、琥珀酸脱氢酶染色、改良Gomori三色染色、细胞色素C氧化酶染色均无特异性改变；基因检测存在MT-ATP6基因m.9176T > C突变和MT-ND4基因m.11778 G > A突变，其母无临床症状但同样携带双突变，患儿最终明确诊断为线粒体基因双突变线粒体病，符合Leber遗传性视神经病叠加Leigh综合征的临床表现。结论: 线粒体病少见且临床表现各异，诊断困难，应综合临床表现、实验室检查、肌肉组织活检、基因检测等明确诊断。

关键词: 线粒体疾病, 视神经萎缩，遗传性，Leber, Leigh病, 基因, 突变, 母系遗传

Abstract:

Objective: To retrospectively analyze the clinical, imaging, pathological and genotypic characteristics of one case of mitochondrial cytopathy with rare double mutation of mitochondrial gene. Methods and Results: The 14-year-old male had double eyelid ptosis for 12 years, walking instability for 11 years, and visual acuity loss for 8 years. The clinical manifestations were external ophthalmoplegia, optic atrophy, pyramidal tract damage, and multiple peripheral neuropathy. Serum lactic acid was increased (3.30 mmol/L). The MRI showed abnormal hyperintensity in bilateral basal ganglia region. EMG showed multiple peripheral neuropathy (mainly motor nerve). The pathological examination of the biceps biopsy include HE staining, succiante dehydrogenase (SDH) staining, modified Gomori trichrome (MGT) staining and cytochrome C oxidase (COX) staining all showed no specific change. Genetic testing was performed for the presence of the m.9176T > C mutation in MT-ATP6 gene and the m.11778G > A mutation in MT-ND4 gene, which led to a definitive diagnosis of mitochondrial gene double mutation mitochondrial cytopathy consistent with the clinical manifestations of Leber's hereditary optic neuropathy (LHON) superimposed on Leigh's syndrome (LS). The mother of the patient had no clinical syptoms but also carried the double mutation of mitochondrial gene. Conclusions: Mitochondrial cytopathy is rare and exhibit diverse clinical manifestations, which the diagnosis requires a combination of clinical manifestations, laboratory examination, muscle tissue biopsy, and genetic testing for confirmation.

Key words: Mitochondrial diseases, Optic atrophy, hereditary, Leber, Leigh disease, Genes, Mutation, Maternal inheritance

徐田, 石志鸿, 赵文娟. 罕见线粒体基因双突变线粒体病一例并文献复习[J]. 中国现代神经疾病杂志, 2025, 25(10): 949-956.

Tian XU, Zhi-hong SHI, Wen-juan ZHAO. Mitochondrial cytopathy with rare double mutation of mitochondrial gene: one case report and literature review[J]. Chinese Journal of Contemporary Neurology and Neurosurgery, 2025, 25(10): 949-956.

https://journal11.magtechjournal.com/cjcnn/CN/Y2025/V25/I10/949

图/表 8

图 1 头部MRI检查（2017年9月4日）所见 1a 横断面T₂WI显示双侧基底节区片状高信号影（箭头所示） 1b 横断面DWI显示双侧基底节区高信号影（箭头所示）

Figure 1 Head MRI findings on September 4, 2017 Axial T₂WI showed patchy hyperintensity in bilateral basal ganglia region (arrows indicate, Panel 1a). Axial DWI showed hyperintensity in bilateral basal ganglia region (arrows indicate, Panel 1b).

图 2 WES测序所见 2a 患儿存在MT-ATP6基因m.9176T > C突变（箭头所示） 2b 患儿存在MT-ND4基因m.11778G > A突变（箭头所示） 2c 患儿之母携带MT-ATP6基因m.9176T > C突变（箭头所示） 2d 患儿之母携带MT-ND4基因m.11778G > A突变（箭头所示）

Figure 2 WES sequencing findings The patient had the MT-ATP6 gene m.9176T > C mutation (arrow indicates, Panel 2a) and the MT-ND4 gene m. 11778G > A mutation (arrow indicates, Panel 2b). The mother of the patient carried MT-ATP6 gene m.9176T > C mutation (arrow indicates, Panel 2c) and MT-ND4 gene m.11778G > A mutation (arrow indicates, Panel 2d).

图 3 头部MRI检查（2021年10月6日）所见 3a 横断面T₂WI显示，双侧基底节区片状高信号影（箭头所示） 3b 横断面DWI显示，双侧基底节区稍高信号影（箭头所示）

Figure 3 Head MRI findings on October 6, 2021 Axial T₂WI showed patchy hyperintensity in bilateral basal ganglia region (arrows indicate, Panel 3a). Axial DWI showed slightly hyperintensity in bilateral basal ganglia region (arrows indicate, Panel 3b).

图 4 光学显微镜观察所见中倍放大 4a 肌纤维大小轻度不等 HE染色 4b 未见破碎蓝纤维，未见深染小血管 SDH染色 4c 未见特异性改变 MGT染色 4d 未见明显异常 COX染色

Figure 4 Light microscopy findings Medium power magnified Muscle fibers varied in size were seen (Panel 4a). HE staining The ragged blue fibers or deeply stained small blood vessels were not seen (Panel 4b). SDH staining The specific change was not seen (Panel 4c). MGT staining No apparent abnormality (Panel 4d). COX staining

图 5 门诊复查头部MRI（2023年7月6日）所见 5a 横断面T₂WI显示，双侧基底节区可见片状高信号影（箭头所示） 5b 横断面DWI显示，左侧基底节区点状高信号影（箭头所示）

Figure 5 Head MRI findings on July 6, 2023 Axial T₂WI showed patchy hyperintensity in bilateral basal ganglia region (arrows indicate, Panel 5a). Axial DWI showed repunctate hyperintensity in left basal ganglia region (arrow indicates, Panel 5b).

图 6 肌电图检查显示，双侧尺神经以及右侧腓总神经运动神经传导波幅降低 6a 左侧尺神经 6b 右侧尺神经 6c 右侧腓总神经

Figure 6 EMG showed decreased amplitude of motor conduction waves in bilateral ulnar nerves and the right common peroneal nerve. The left ulnar nerve (Panel 6a). The right ulnar nerve (Panel 6b). The right common peroneal nerve (Panel 6c).

图 7 眼底检查显示双眼视神经萎缩 R，右侧；L，左侧

Figure 7 Funduscopy showed optic atrophy in both eyes.

表 1 9例线粒体基因双突变线粒体病患者的临床特征

Table 1. Clinical characteristics of 9 mitochondrial cytopathy with double mutation of mitochondrial gene patients

序号	文献来源	性别	年龄（岁）	发病年龄（岁）	临床表现	头部MRI	乳酸（mmol/L）	脑电图	肌肉活检	致病突变
1	Gamba等^[24]（2012）	女性	35	25	上睑下垂	—	正常	—	可见RRF，COX缺乏	m.5628T > C +m.8348A > G
2	Mkaouar-Rebai等^[21]（2021）	女性	8	5	听力下降，共济失调智力发育延迟	—	血清2.61	—	—	m.3911A > G +m.12058A > C
3	Mimaki等^[23]（2003）	男性	51	51	视力下降	—	—	—	—	m.11778G > A +m.12192G>A
4	Brown等^[20]（2001）	女性	9	9	视力下降	—	—	—	—	m.11778G > A +m.14484T > C
5	Nakamura等^[22]（2010）	女性	23	17	听力下降，言语不清，共济失调，肌无力	弥漫性轻度脑萎缩	脑脊液3.91	双侧慢波	可见RRF，COX缺乏	m.8356T > C +m.3243A > G
6	Nakamura等^[22]（2010）	女性	46	26	言语不清，共济失调	左侧大脑半球病变	—	—	COX缺乏	m.8356T > C +m.3243A > G
7	Nakamura等^[22]（2010）	女性	21	18	共济失调	—	血清3.84	左侧尖慢复合波	—	m.8356T > C +m.3243A > G
8	Nakamura等^[22]（2010）	女性	51	51	无异常	—	血清1.82	—	无特异性改变	m.8356T > C +m.3243A > G
9	本文病例	男性	14	2	上睑下垂，视力下降，肌无力	左侧基底节区DWI高信号、双侧基底节区T₂WI高信号	血清3.30	无异常	无特异性改变	m.9176T > C +m.11778G > A

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2 罕见线粒体基因双突变线粒体病一例并文献复习

Mitochondrial cytopathy with rare double mutation of mitochondrial gene: one case report and literature review

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