Ariga H, Takahashi S, Miyabayashi S, Ohnuma A, Higano S, Kurihara N, Sakamoto K
Department of Radiology, Tohoku University School of Medicine.
Nihon Igaku Hoshasen Gakkai Zasshi. 1996 Oct;56(12):839-45.
Serial CT and MRI findings in five patients (two boys and three girls) with Leigh syndrome were retrospectively reviewed in a follow-up period lasting from six months to 10 years. The two boys were found to have cytochrome c oxidase deficiency and one of the girls to have mitochondrial DNA mutation, while the remaining two girls had no detectable enzyme deficiency. CT and MRI revealed symmetrical involvement of the brain bilaterally in all cases. The focal lesions were found most frequently in putamina and caudate nuclei (four cases each), followed by thalami (three cases), globi pallidi, and midbrain (two cases each). In addition, diffuse white matter and/or cortical lesions were disclosed in three cases. MRI and CT at an early stage of the disease revealed swollen, symmetrical lesions which showed shrinkage in size accompanied by the adjacent brain atrophy on later images. Some lesions were detected only in the early stage and were not shown in later images. Thus, careful reading of sequential changes appears to be required for accurate diagnosis of Leigh syndrome.
对5例Leigh综合征患者(2名男孩和3名女孩)进行了回顾性研究,随访时间为6个月至10年,期间对其进行了系列CT和MRI检查。发现2名男孩存在细胞色素c氧化酶缺乏,1名女孩存在线粒体DNA突变,其余2名女孩未检测到酶缺乏。CT和MRI显示所有病例均为双侧大脑对称受累。局灶性病变最常见于壳核和尾状核(各4例),其次为丘脑(3例)、苍白球和中脑(各2例)。此外,3例出现弥漫性白质和/或皮质病变。疾病早期的MRI和CT显示病变肿胀、对称,后期图像显示病变大小缩小并伴有邻近脑萎缩。一些病变仅在早期被检测到,后期图像未显示。因此,为准确诊断Leigh综合征,似乎需要仔细阅读序列变化。