Department of Pediatrics, Chung Shan Medical University Hospital, Taichung, Taiwan.
Pediatr Neonatol. 2012 Feb;53(1):60-2. doi: 10.1016/j.pedneo.2011.11.012. Epub 2012 Jan 13.
Leigh syndrome is an early-onset progressive neurodegenerative disorder with a characteristic neuropathology consisting of focal, bilateral lesions in one or more areas of the central nervous system. The brain images of Leigh syndrome are characterized by markedly symmetrical involvement, most frequently of the putamen. We report a 2-year-old girl with Leigh syndrome manifested as acute onset of altered level of consciousness. Brain magnetic resonance images showed abnormal signal intensity over the bilateral basal ganglia and cerebellar dentate nuclei. Despite normal biochemical studies, in particular serum lactate levels, magnetic resonance spectroscopy demonstrated a downward doublet lactate peak. The diagnosis of Leigh syndrome was subsequently confirmed by genetic study which showed a novel mutation at 8597T>C of the mitochondrial ATPase6 gene.
Leigh 综合征是一种早发型进行性神经退行性疾病，其特征性神经病理学表现为中枢神经系统一个或多个区域的局灶性、双侧病变。 Leigh 综合征的脑部图像表现为明显的对称性受累，最常见的是壳核。我们报告了一例 Leigh 综合征的 2 岁女孩，表现为意识水平急性改变。脑部磁共振成像显示双侧基底节和小脑齿状核异常信号强度。尽管生化研究正常，特别是血清乳酸水平正常，但磁共振波谱显示双峰乳酸峰向下。随后通过基因研究证实 Leigh 综合征的诊断，该研究显示线粒体 ATP 酶 6 基因 8597T>C 处有一个新的突变。
