Nakagawa M, Kaminishi Y, Isashiki Y, Yamada H, Higuchi I, Uchida Y, Osame M
Third Department of Internal Medicine, Kagoshima University, Japan.
Acta Neurol Scand. 1995 Jul;92(1):102-8. doi: 10.1111/j.1600-0404.1995.tb00475.x.
We report two sisters (32 and 36 years old) with familial deaf-mutism, progressive external ophthalmoplegia, leukodystrophy and mitochondrial myopathy. T2-weighted brain MRI demonstrated diffuse symmetrical high intensity areas in the white matter. Their muscle biopsies showed ragged-red fibers and cytochrome c oxidase (CCO)-negative fibers. CCO activity in biopsied muscle decreased to about 20% of normal control. They had no deletions of the mitochondrial DNA and no point mutations in mitochondrial tRNA. Their brother was diagnosed as having Kugelberg-Welander disease, grand mal seizures and urinary dysfunction. Their parents and grandparents had consanguinity. Three relatives were found to have deaf-mutism without accompanying ophthalmoplegia. This rare combination of mitochondrial encephalomyopathy and familial deaf-mutism might be caused by a nuclear DNA mutation in these sisters.
我们报告了两名患有家族性聋哑、进行性眼外肌麻痹、脑白质营养不良和线粒体肌病的姐妹（分别为32岁和36岁）。T2加权脑磁共振成像显示白质中有弥漫性对称高信号区。她们的肌肉活检显示有破碎红纤维和细胞色素c氧化酶（CCO）阴性纤维。活检肌肉中的CCO活性降至正常对照的约20%。她们的线粒体DNA没有缺失，线粒体tRNA也没有点突变。她们的兄弟被诊断患有库格尔贝格-韦兰德病、癫痫大发作和排尿功能障碍。她们的父母和祖父母有血缘关系。发现三名亲属患有聋哑但无眼外肌麻痹。这些姐妹中这种罕见的线粒体脑肌病与家族性聋哑的组合可能是由核DNA突变引起的。
