Wu T S, Lee C C, Lin J T, Hsu H H, Lin S T, Jong Y J, Shen E Y
Department of Pediatrics, Taipei Medical College Hospital, Taiwan, R.O.C.
Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi. 1993 Jul-Aug;34(4):301-7.
A case is reported of a 16-month-old girl who presented with generalized hypotonia, ptosis and persistent low grade fever after a previous pneumonia. Brain CT and MRI showed symmetric necrotizing lesions in the basal ganglia, substantia nigra and periaqueduct area. Lactate and pyruvate levels were elevated in both the blood and cerebrospinal fluid. Biopsy of the rectus femoris muscle for electron microscopic examination revealed some distortion of the mitochondrial cristae. Biochemical study showed normal respiratory chain enzymes. Leigh disease was considered from the neuroradiological findings and morphological investigations.
报告了一例16个月大的女孩，她在先前患肺炎后出现全身性肌张力减退、上睑下垂和持续低热。脑部CT和MRI显示基底神经节、黑质和导水管周围区域有对称性坏死性病变。血液和脑脊液中的乳酸和丙酮酸水平均升高。对股直肌进行活检以进行电子显微镜检查，发现线粒体嵴有一些扭曲。生化研究显示呼吸链酶正常。根据神经放射学检查结果和形态学研究，考虑为 Leigh 病。
