Haginoya Kauzhiro, Kaneta Tomohiro, Togashi Noriko, Hino-Fukuyo Naomi, Kobayashi Tomoko, Uematsu Mitsugu, Kitamura Taro, Inui Takehiko, Okubo Yukimune, Takezawa Yusuke, Anzai Mai, Endo Wakaba, Miyake Noriko, Saitsu Hirotomo, Matsumoto Naomichi, Kure Shigeo
Department of Pediatrics, Tohoku University School of Medicine, Sendai 980-8574, Japan; Department of Pediatric Neurology, Takuto Rehabilitation Center for Children, Sendai 982-0241, Japan.
Department of Radiology, Tohoku University School of Medicine, Sendai 980-8574, Japan.
J Neurol Sci. 2016 Mar 15;362:309-13. doi: 10.1016/j.jns.2016.02.008. Epub 2016 Feb 4.
We conducted a [(18)F]fluorodeoxyglucose positron emission tomography (FDG-PET) study in five patients (median age 11 (range 4-13) years) with Leigh syndrome to evaluate its usefulness for understanding the functional brain dysfunction in this disease and in future drug trials. Four patients were found to have reported mitochondrial DNA gene mutations. The brain T2-weighted magnetic resonance imaging (MRI) showed high-intensity areas in the putamen bilaterally in five patients, caudate bilaterally in four, thalamus bilaterally in two, and brainstem in one. Cerebellar atrophy was observed in older two patients. For disease control, seven age-matched epilepsy patients who had normal MRI and FDG-PET studies were selected. For semiquantitative analysis of the lesions with decreased (18)F-FDG uptake, the mean standard uptake value (SUV) was calculated in regions of interest (ROIs) placed in each brain structure. We compared the SUV of nine segments (the frontal, temporal, parietal, and occipital lobes, thalami, basal ganglia, mid-brain, pons, and cerebellum) between patients with Leigh syndrome and controls. The glucose uptake was decreased significantly in the cerebellum and basal ganglia, which could explain the ataxia and dystonia in patients with Leigh syndrome. Although this study had some limitations, FDG-PET might be useful for evaluating the brain dysfunction and treatment efficacy of new drugs in patients with Leigh syndrome. Further study with more patients using advanced methods to quantify glucose uptake is needed before drawing a conclusion.
我们对5例（中位年龄11岁（范围4 - 13岁））患有 Leigh 综合征的患者进行了[（18）F]氟脱氧葡萄糖正电子发射断层扫描（FDG - PET）研究，以评估其在理解该疾病的功能性脑功能障碍以及未来药物试验中的作用。发现4例患者报告有线粒体DNA基因突变。脑部T2加权磁共振成像（MRI）显示，5例患者双侧壳核有高强度区域，4例双侧尾状核有高强度区域，2例双侧丘脑有高强度区域，1例脑干有高强度区域。在年龄较大的2例患者中观察到小脑萎缩。为了进行疾病对照，选择了7例MRI和FDG - PET研究正常的年龄匹配的癫痫患者。对于（18）F - FDG摄取减少的病变进行半定量分析，在置于每个脑结构中的感兴趣区域（ROI）计算平均标准摄取值（SUV）。我们比较了Leigh综合征患者和对照组之间九个脑区（额叶、颞叶、顶叶、枕叶、丘脑、基底神经节、中脑、脑桥和小脑）的SUV。小脑和基底神经节的葡萄糖摄取显著降低，这可以解释Leigh综合征患者的共济失调和肌张力障碍。尽管这项研究有一些局限性，但FDG - PET可能有助于评估Leigh综合征患者的脑功能障碍和新药的治疗效果。在得出结论之前，需要使用先进方法对更多患者进行进一步研究以量化葡萄糖摄取。
