Leigh Syndrome: Clinical and Neuroimaging Follow-Up
Leigh Syndrome: Clinical and Neuroimaging Follow-Up
复制标题
DOI：
10.1016/j.pediatrneurol.2008.09.020
复制
发表时间：
2009-02-01
影响因子：
3.8
通讯作者：
Chen, Clayton Chi-Chang
中科院分区：
文献类型：
--
作者：
Lee, Hsiu-Fen;Tsai, Chi-Ren;Chen, Clayton Chi-Chang
Leigh综合征是由线粒体能量代谢功能障碍引起的一种遗传性、异质性和进行性的婴儿和儿童神经退行性疾病。从1983年至2006年8月，14例确诊为Leigh综合征的患者进行了研究，在特征性的神经影像学表现和异常的线粒体配置下的电子显微镜下，以及分子分析。在14例病例中，11例在1岁前出现临床特征。(79%).所有14人都表现出中枢神经系统受累的各种症状。最常见的三种症状是发育迟缓（12/14; 86%）、癫痫发作（11/14; 79%）和意识改变（8/14; 57%）。14例中有10例出现中枢神经系统外表现，最常见的症状是发育不良（5/14; 36%）、心包积液和扩张型心肌病（3/14; 21%）和肝功能损害（3/14; 21%）。在所有14例病例中，神经影像学均显示基底节、脑干或两者均异常。基底节病变部位以壳核最常见（11/12; 92%）。由于临床特征的变化，6例患者使用头颅磁共振成像进行随访;在所有6例病例中，成像显示了大脑的演变。在3例患者中进行了头颅磁共振波谱检查，其中2例在病程恶化期间发现了乳酸峰。在长期随访中，Leigh综合征的预后较差。7例为1岁零6个月以前的早期死亡。随诊头颅磁共振成像结合磁共振波谱分析有助于临床进展病例的监测。(C)2009年，Elsevier Inc. All rights reserved.
Leigh syndrome, caused by dysfunction in mitochondrial energy metabolism, is an inherited, heterogeneous, and progressive neurodegenerative disorder of infancy and childhood. From 1983 to August 2006, 14 cases diagnosed with Leigh syndrome were studied in terms of characteristic neuroimaging findings and abnormal mitochondrial configurations under electron microscopy, as well as molecular analysis. Of the 14 cases, 11 presented clinical features before age 1. (79%). All 14 presented with variable symptoms of central nervous system involvement. The three most common symptoms were developmental delay (12/14; 86%), seizures (11/14; 79%), and altered consciousness (8/14; 57%). Extra-central nervous system manifestations were observed in 10 of the 14 cases, the most common symptoms being failure to thrive (5/14; 36%), pericardial effusion and dilated cardiomyopathy (3/14; 21%), and liver function impairment (3/14; 21%). In all 14 cases, neuroimaging revealed abnormal findings over the basal ganglion, brainstem, or both. The putamen was the most common lesion site in the basal ganglia (11/12; 92%). Cranial magnetic resonance imaging was used for follow-up in 6 cases because of changes in clinical features; in all 6 cases the imaging revealed evolution in the brain. Cranial magnetic resonance spectroscopy was performed in 3 cases and in 2 of them revealed lactate peaks during deterioration of the disease course. The prognosis for Leigh syndrome was poor during long-term follow-up. Seven cases were early fatalities, before 1 year and 6 months of age. Follow-up cranial magnetic resonance imaging together with magnetic resonance spectroscopy in cases with clinical evolution is helpful for monitoring this disease. (C) 2009 by Elsevier Inc. All rights reserved.