Yamamoto T, Gotoh K, Sato T, Shiotsu H, Kuwabara N, Nagaoka M, Mizuno Y
Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan.
No To Shinkei. 1993 Jan;45(1):85-92.
We report a 46-year-old female who presented progressive ophthalmoplegia and limb weakness. She was well until the age of 15 years when there was an onset of bilateral deafness. She became completely deaf by 20 years of age. She noted an onset of weakness in her legs when she was 27-years-old and of ptosis at 34 years of age. She was admitted to our hospital when she was 41-years-old. Neurological examination revealed near total ophthalmoplegia, bilateral ptosis, dysphagia, generalized muscle atrophy and weakness of approximately 4/5 degree, facial grimacing, athetotic movements in four limbs. Laboratory examinations revealed increase in blood lactate and pyruvate levels and diffuse low density change in the cerebral white matter in CT scans. She was thought to have a mitochondrial encephalomyopathy. She was discharged for follow-up, but her clinical course was that of a relentless deterioration. She was readmitted to our service in December 1989. She showed further progress in her weakness and muscle atrophy. Otherwise neurological examination was essentially similar to the previous one. Her cranial CT scans showed low density changes in striatum, thalamus and midbrain in addition to the white matter. Enzyme activities of the electron transport complexes revealed a moderate decrease in the succinatecytochrome c reductase activity, and the Southern blot analysis of mtDNA revealed multiple deletions in mitochondrial genomes. Two months after her admission, she developed bronchopneumonia, and expired on March 13th, 1990. Post-mortem examination revealed diffuse pallor of myeline in the cerebral white matter in K-B staining. A marked neuronal loss and gliosis were observed in putamen bilaterally. Skeletal muscles showed typical changes of mitochondrial myopathies with ragged-red fibers in Gomori-Trichrome staining, and crystalline inclusion bodies by electron microscopic observations. Some neurogenic atrophies were also seen. Oculomotor nuclei appeared intact. It was thought that she had an incomplete form of Kearns-Sayre syndrome. The patient was discussed in a neurological CPC of the departments of Neurology and Pathology of Juntendo University School of Medicine.
我们报告了一名46岁女性，她出现进行性眼肌麻痹和肢体无力。她一直健康，直到15岁时开始出现双侧耳聋，20岁时完全失聪。27岁时她注意到腿部无力，34岁时出现上睑下垂。41岁时她入住我院。神经系统检查发现几乎完全性眼肌麻痹、双侧上睑下垂、吞咽困难、全身肌肉萎缩以及约4/5级的无力、面部鬼脸、四肢徐动症。实验室检查显示血乳酸和丙酮酸水平升高，CT扫描显示脑白质弥漫性低密度改变。她被认为患有线粒体脑肌病。她出院进行随访，但临床病程呈持续恶化。1989年12月她再次入住我院。她的无力和肌肉萎缩进一步加重。其他神经系统检查结果与之前基本相似。她的头颅CT扫描显示除白质外，纹状体[striatum]、丘脑和中脑也有低密度改变。电子传递复合体的酶活性显示琥珀酸 - 细胞色素c还原酶活性中度降低，线粒体DNA的Southern印迹分析显示线粒体基因组存在多个缺失。入院两个月后，她患上支气管肺炎，并于1990年3月13日去世。尸检显示在K - B染色中脑白质髓磷脂弥漫性苍白。双侧壳核观察到明显的神经元丢失和胶质细胞增生。骨骼肌在Gomori - 三色染色中显示出线粒体肌病的典型变化，有破碎红纤维，电子显微镜观察可见结晶包涵体。也可见一些神经源性萎缩。动眼神经核看起来完整。认为她患有不完全型的卡恩斯 - 塞尔综合征。该患者在顺天堂大学医学院神经科和病理科的神经科临床病理讨论会上进行了讨论。 （注：striatum常见释义为纹状体，在医学专业领域更准确的表述为[解剖学名词：尾状核和豆状核的合称]，但按要求未做更多解释，此处保留常见释义。）
