Multisystem Disorder in Late-Onset Chronic Progressive External Ophthalmoplegia
Multisystem Disorder in Late-Onset Chronic Progressive External Ophthalmoplegia
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DOI：
10.1017/s031716710001115x
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发表时间：
2011-01-01
影响因子：
3
通讯作者：
Mezei, Michelle M.
中科院分区：
文献类型：
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作者：
Pfeffer, Gerald;Sirrs, Sandra;Mezei, Michelle M.
前言：慢性进行性眼外肌麻痹(CPEO)是一种与Kearns-Sayre综合征(KSS)并存的线粒体综合征。临床表现是多种多样的，我们的经验表明，20岁以后发病的CPEO存在表型差异。方法：这项描述性研究是对40例迟发性CPEO患者的回顾性图表回顾。对其临床特点、实验室和神经生理学结果进行了复习。结果：多系统功能障碍在本组中非常常见。胃肠功能障碍比预期更常见(60%)，偏头痛(40%)也是如此。KSS疾病谱上的临床特征在本组中并不常见，仅有2.5%的人有色素视网膜病变，5%的人有心脏传导异常，22.5%的人有内分泌疾病(最常见的是甲状腺功能障碍而不是糖尿病)。神经生理学异常包括44%的长度依赖性轴索多神经病(有时为亚临床)和26%的肌病肌电改变。暴露于获得性线粒体毒性来源，包括吸烟和丙型肝炎感染，在本系列中比预期更常见。讨论：与先前报道的CPEO患者相比，这一晚发系列患者的表型有所不同。在这一系列晚发患者中，多器官功能障碍在CPEO中比以往报道的更常见，一些经典的线粒体表现，如色素视网膜病变，是罕见的。我们认为获得性线粒体毒性可能在成人型CPEO的发病机制中起一定作用。
Introduction: Chronic progressive external ophthalmoplegia (CPEO) is a mitochondrial syndrome on a disease spectrum with Kearns-Sayre syndrome (KSS). Clinical presentation is variable and our experience suggested that phenotypic differences exist in CPEO with onset after age 20. Methods: This descriptive study is a retrospective chart review of 40 patients with late-onset CPEO. Clinical features, laboratory and neurophysiology results were reviewed. Results: Multisystem dysfunction was very common in this series. Gastrointestinal dysfunction was more common than expected (60%) as was migraine headache (40%). Clinical characteristics on the KSS disease spectrum were uncommon in this series with only 2.5% having pigmentary retinopathy, 5% with cardiac conduction abnormality, and 22.5% having endocrinopathy (most often thyroid dysfunction rather than diabetes). Neurophysiology abnormalities included length-dependent axonal polyneuropathy in 44% (sometimes subclinical) and myopathic EMG changes in 26%. Exposure to sources of acquired mitochondrial toxicity including cigarette use and hepatitis C infection were more common than expected in this series. Discussion: Phenotype was different in this late-onset series compared with previous reports in CPEO patients. In this series of late-onset patients, multi-organ dysfunction was more common than previously reported in CPEO, and some classical mitochondrial manifestations, such as pigmentary retinopathy were rare. We suggest that acquired mitochondrial toxicity may have a role in the pathogenesis of adult-onset CPEO.