Huang W Y, Chi C S, Mak S C, Wu H M, Yang M T
Department of Pediatrics, Kuang-Tien General Hospital, ShaLu, Taiwan, R.O.C.
Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi. 1995 Sep-Oct;36(5):378-81.
A 22-month-old female presented with developmental delay and dystonia. The T2 weighted image of the brain MRI showed bilateral symmetrical high signal lesions over the putamen. An increased serum lactate pyruvate ratio (29.25) and a positive oral glucose lactate stimulation test were noted. Electron microscopic examination showed abnormal mitochondrial aggregation with band cristae in the subsarcolemmal area. These findings were indicative of clinical Leigh's syndrome. However, unusually the mt DNA analysis showed a point mutation at the nucleotide position 8344.
一名22个月大的女性表现出发育迟缓及肌张力障碍。脑部MRI的T2加权图像显示双侧壳核有对称性高信号病变。血清乳酸丙酮酸比值升高（29.25），口服葡萄糖乳酸刺激试验呈阳性。电子显微镜检查显示肌膜下区域有线粒体异常聚集及板层嵴。这些发现提示临床诊断为 Leigh 综合征。然而，不同寻常的是，线粒体DNA分析显示在核苷酸位置8344处存在一个点突变。
