Markesbery W R
Neurology. 1979 Jul;29(7):1057-60. doi: 10.1212/wnl.29.7.1057.
A 27-year-old man had limb weakness, short stature, neurosensory hearing loss, seizures, mild peripheral neuropathy, neurogenic bladder, elevated cerebrospinal fluid (CSF) protein content, primary lactic acidemia, and basal ganglia calcification. Muscle biopsy revealed numerous ragged-red fibers. On electronmicroscopy there were mitochondrial alterations, including many intramitochondrial inclusions. The mother of the patient had Vogt-Koyanagi-Harada syndrome, a combination of rare disorders in the same family that has not been previously described.
一名27岁男性出现肢体无力、身材矮小、神经性听力丧失、癫痫发作、轻度周围神经病变、神经源性膀胱、脑脊液（CSF）蛋白含量升高、原发性乳酸性血症和基底节钙化。肌肉活检显示大量破碎红纤维。电子显微镜检查发现线粒体改变，包括许多线粒体内包涵体。患者的母亲患有伏格特-小柳-原田综合征，这是同一家族中罕见疾病的组合，此前尚未有过描述。
