一例与慢性胰腺炎相关的肌阵挛性癫痫伴破碎红纤维综合征（MERRF）。
A case of MERRF associated with chronic pancreatitis.
作者信息
Toyono M, Nakano K, Kiuchi M, Imai K, Suzuki H, Shishikura K, Osawa M, Shiratori K, Goto Y, Nonaka I, Sugie H
机构信息
Department of Pediatrics, Tokyo Women's Medical University, 8-1 Kawada-cho, Shinjuku, 162-8666, Tokyo, Japan.
出版信息
Neuromuscul Disord. 2001 Apr;11(3):300-4. doi: 10.1016/s0960-8966(00)00176-0.
We report the first case to our knowledge of chronic pancreatitis associated with mitochondrial encephalopathy with the A8344G mitochondrial DNA (mtDNA) mutation. This 10-year-old-girl had suffered from recurrent abdominal pain with elevated serum amylase and lipase since the age of 6, and easy fatigability, tremor and astatic seizures since the age of 8. A biopsy of quadriceps muscle revealed ragged-red-fibers and cytochrome c oxidase deficiency. Analysis of mtDNA in peripheral blood identified an A8344G mutation in the mitochondrial tRNA(Lys) gene. Taken together with physical signs of myoclonic seizures and cerebellar dysfunction, we diagnosed her as myoclonic epilepsy with ragged-red fibers associated with chronic pancreatitis. Although no association between mitochondrial disease and pancreatitis has yet been established, this case suggests it is necessary to consider the participation of mitochondrial abnormality in the pathogenesis of recurrent pancreatitis.
据我们所知，我们报告了首例与A8344G线粒体DNA（mtDNA）突变相关的线粒体脑病合并慢性胰腺炎病例。这名10岁女孩自6岁起就反复出现腹痛，血清淀粉酶和脂肪酶升高，自8岁起出现易疲劳、震颤和站立不稳性癫痫。股四头肌活检显示有破碎红纤维和细胞色素c氧化酶缺乏。外周血mtDNA分析确定线粒体tRNA（Lys）基因存在A8344G突变。结合肌阵挛性癫痫和小脑功能障碍的体征，我们将她诊断为伴有慢性胰腺炎的破碎红纤维性肌阵挛性癫痫。尽管线粒体疾病与胰腺炎之间尚未建立关联，但该病例表明有必要考虑线粒体异常在复发性胰腺炎发病机制中的参与情况。
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