José da Rocha Antônio, Túlio Braga Flávio, Carlos Martins Maia Antonio, Jorge da Silva Carlos, Toyama Carlos, Pereira Pinto Gama Hugo, Kok Fernando, Rodrigues Gomes Hélio
Fleury Diagnostic Center, Section of Radiology, São Paulo, Brazil.
J Neuroimaging. 2008 Jan;18(1):1-8. doi: 10.1111/j.1552-6569.2007.00205.x.
Mitochondriopathies are a heterogeneous group of diseases with variable phenotypic presentation, which can range from subclinical to lethal forms. They are related either to DNA mutations or nuclear-encoded mitochondrial genes that affect the integrity and function of these organelles, compromising adenosine triphosphate (ATP) synthesis. Magnetic resonance (MR) is the most important imaging technique to detect structural and metabolic brain abnormalities in mitochondriopathies, although in some cases these studies may present normal results, or the identified brain abnormalities may be nonspecific. Magnetic resonance spectroscopy (MRS) enables the detection of high cerebral lactate levels, even when the brain has normal appearance by conventional MR scans. MRS is a useful tool for the diagnosis of mitochondriopathies, but must be correlated with clinical, neurophysiological, biochemical, histological, and molecular data to corroborate the diagnosis. Our aim is to clarify the most relevant issues related to the use of MRS in order to optimize its technical parameters, improving its use in the diagnosis of mitochondriopathies, which is often a challenge.
线粒体病是一组异质性疾病，其表型表现多样，从亚临床形式到致死形式不等。它们与DNA突变或影响这些细胞器完整性和功能的核编码线粒体基因有关，损害三磷酸腺苷（ATP）合成。磁共振（MR）是检测线粒体病中脑结构和代谢异常的最重要成像技术，尽管在某些情况下这些检查可能结果正常，或者所发现的脑异常可能不具有特异性。磁共振波谱（MRS）能够检测到高脑乳酸水平，即使在常规MR扫描显示脑外观正常时也是如此。MRS是诊断线粒体病的有用工具，但必须与临床、神经生理学、生化、组织学和分子数据相关联，以证实诊断。我们的目的是阐明与MRS使用相关的最关键问题，以便优化其技术参数，改善其在诊断线粒体病中的应用，而这往往是一项挑战。
