Motoda Atsuko, Kurashige Takashi, Sugiura Tomohito, Nakamura Takeshi, Yamawaki Takemori, Arihiro Koji, Matsumoto Masayasu
Department of Clinical Neuroscience and Therapeutics, Hiroshima University.
Rinsho Shinkeigaku. 2013;53(6):446-51. doi: 10.5692/clinicalneurol.53.446.
The patient was a 35-year-old female with an 9-year history of chronic kidney disease awaiting renal transplantation. She was brought to hospital by ambulance due to a generalized convulsive seizure. Her consciousness remained disturbed after treatment for her seizure, and sensorineural deafness was noted. Lactic acid and pyruvic acid levels were extremely elevated in both the plasma and the cerebrospinal fluid, and brain atrophy was obvious on brain imaging. These findings suggested mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes, which was confirmed by muscle biopsy. Previous renal biopsy specimen showed focal segmental glomerulosclerosis and granular swollen epithelial cells. She had no acute progression of the stroke-like episode with L-arginine treatment. However, the brain lesions expanded on MRI. Mitochondrial DNA analysis from a muscle biopsy specimen showed G13513A mutation. The G13513A mutation and the long history of preceding renal failure before the stroke-like episodes were distinctive features in this case.
该患者为一名35岁女性，有9年慢性肾病病史，正在等待肾移植。她因全身性惊厥发作被救护车送往医院。在对其癫痫发作进行治疗后，她的意识仍未恢复，并出现了感音神经性耳聋。血浆和脑脊液中的乳酸和丙酮酸水平均极度升高，脑部影像学检查显示脑萎缩明显。这些发现提示为线粒体肌病、脑病、乳酸酸中毒和卒中样发作，肌肉活检证实了这一诊断。先前的肾活检标本显示局灶节段性肾小球硬化和颗粒状肿胀的上皮细胞。她接受L-精氨酸治疗后，卒中样发作无急性进展。然而，MRI显示脑病变扩大。肌肉活检标本的线粒体DNA分析显示存在G13513A突变。G13513A突变以及卒中样发作前长期的肾衰竭病史是该病例的独特特征。
