Yoshinaga H, Ogino T, Ohtahara S, Sakuta R, Nonaka I, Horai S
Department of Child Neurology, Okayama University Medical School, Japan.
J Child Neurol. 1993 Apr;8(2):129-33. doi: 10.1177/088307389300800204.
We studied a patient with Leigh's syndrome using neurophysiologic, radiologic, enzymatic, biochemical, and molecular analysis. Her clinical course had started with acute encephalopathic symptoms at 7 months of age. With repeated remission and exacerbation, she developed hypotonia and symptoms of brainstem dysfunction, such as irregular respiration and swallowing difficulty. These symptoms were followed by epileptic seizures, including simple partial seizures and tonic spasms. Both serum lactate and serum pyruvate levels were elevated, and deficient activity was detected in cytochrome c oxidase in her quadriceps femoris muscle. From the early stages, we noted an abnormality in the auditory brainstem response and visual evoked potentials, and an abnormal symmetrical low-density area in the basal ganglia on the computed tomographic scan. We found a mitochondrial DNA point mutation at 8993 in blood samples from both the patient and her mother using a simple polymerase chain reaction method. The ratio of wild and mutant mitochondrial DNA calculated densitometrically on polymerase chain reaction products was 56.6% in the patient's blood cells and 8.4% in her mother's. This patient's disorder was thought to be maternally inherited Leigh's syndrome. Her brother had died of the identical clinical features at 1 year 9 months of age.
我们使用神经生理学、放射学、酶学、生物化学和分子分析方法对一名患有 Leigh 综合征的患者进行了研究。她的临床病程始于 7 个月大时出现的急性脑病症状。随着病情反复缓解和加重，她出现了肌张力减退以及脑干功能障碍的症状，如呼吸不规则和吞咽困难。随后出现癫痫发作，包括单纯部分性发作和强直性痉挛。患者血清乳酸和丙酮酸水平均升高，股四头肌中细胞色素 c 氧化酶活性检测不足。从早期开始，我们就注意到听觉脑干反应和视觉诱发电位异常，计算机断层扫描显示基底节区有异常对称的低密度区。我们使用简单的聚合酶链反应方法在患者及其母亲的血液样本中发现了线粒体 DNA 在 8993 位点的点突变。通过对聚合酶链反应产物进行光密度分析计算得出，患者血细胞中野生型和突变型线粒体 DNA 的比例为 56.6%，其母亲为 8.4%。该患者的疾病被认为是母系遗传的 Leigh 综合征。她的哥哥在 1 岁 9 个月时死于相同的临床症状。
