Mitochondrial mutations in 12S rRNA and 16S rRNA presenting as chronic progressive external ophthalmoplegia (CPEO) plus: A case report.
Mitochondrial mutations in 12S rRNA and 16S rRNA presenting as chronic progressive external ophthalmoplegia (CPEO) plus: A case report.
复制标题
12S rRNA 和 16S rRNA 线粒体突变表现为慢性进行性眼外肌麻痹 (CPEO) 加上：病例报告
DOI：
10.1097/md.0000000000008869
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发表时间：
2017-12
期刊：
影响因子：
1.6
通讯作者：
Hao YL
中科院分区：
文献类型：
--
作者：
Lv ZY;Xu XM;Cao XF;Wang Q;Sun DF;Tian WJ;Yang Y;Wang YZ;Hao YL
慢性进行性外眼麻痹（CPEO）是一种典型的线粒体眼部疾病，以双侧进行性上睑下垂和眼麻痹为特征。Kearns -Sayre综合征（KSS）是一种多系统疾病，包括PEO、心传导阻滞和色素视网膜病变。少数CPEO患者有KSS的其他表现，但不符合所有临床诊断标准，称为“CPEO +”。我们报告一位48岁的女性，表现出四肢无力、上睑下垂、眼瘫和小脑功能障碍。患者被诊断为CPEO +综合征。患者接受了临床、遗传、组织学和组织化学分析。患者口服辅酶q10、维生素b、左旋肉碱和维生素e。患者血清肌酸激酶水平、心电图和神经传导研究结果正常；肌电图显示肌病表现。磁共振成像显示全脑萎缩，特别是在脑干和小脑区域。肌肉活检显示有大量粗糙的红色纤维。骨骼肌活检的线粒体DNA测序显示12S rRNA中存在C960del突变，16S rRNA中存在C2835T纯合突变。按时服药，临床表现与2年前相似。这是第一个在MRI表现为全脑萎缩的患者中发现2个rRNA突变的报告，特别是在脑干和小脑区域。早期发现和适当治疗至关重要。本病例强调小脑共济失调可发生在CPEO +。
Chronic progressive external ophthalmoplegia (CPEO) is a classical mitochondrial ocular disorder characterized by bilateral progressive ptosis and ophthalmoplegia. Kearns -Sayre syndrome (KSS) is a multisystem disorder with PEO, cardiac conduction block, and pigmentary retinopathy. A few individuals with CPEO have other manifestations of KSS, but do not meet all the clinical diagnosis criteria, and this is called “CPEO plus.” We report a 48-year-old woman exhibiting limb weakness, ptosis, ophthalmoparesis, and cerebellar dysfunctions. The patient was diagnosed as exhibiting CPEO plus syndrome. The patient underwent clinical, genetic, histological, and histochemical analysis. She was treated orally with CoQ10, vitamin Bs, L-carnitine, and vitamin E. The patient's serum creatine kinase levels, electrocardiography, and nerve conduction study results were normal; an electromyogram revealed myopathic findings. Magnetic resonance imaging showed global brain atrophy, particularly in the brainstem and cerebellum areas. A muscle biopsy showed the presence of abundant ragged red fibers. Sequencing of the mitochondrial DNA from the skeletal muscle biopsy revealed C960del mutation in 12S rRNA and homozygous mutation C2835T in 16S rRNA. She took medicines on schedule, the clinical features were similar as 2 years ago. This is the first report of 2 rRNA mutations in a patient with MRI findings showing global brain atrophy, particularly in brainstem and cerebellum areas. Early recognition and appropriate treatment is crucial. This case highlights the cerebellar ataxia can occur in CPEO plus.