Mitochondrial encephalomyopathy showing prominent microvacuolation and necrosis of intestinal smooth muscle cells: a case diagnosed by rectal biopsy
Mitochondrial encephalomyopathy showing prominent microvacuolation and necrosis of intestinal smooth muscle cells: a case diagnosed by rectal biopsy
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DOI：
10.1007/s004010050863
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发表时间：
1998-07-01
影响因子：
12.7
通讯作者：
Okeda, R
中科院分区：
文献类型：
--
作者：
Kuroiwa, T;Kuwata, T;Okeda, R
在直肠活检中，发现一位40岁的女性出现肠道运动障碍，粘膜肌层细胞有明显的微空泡化，这与异常线粒体的聚集增加相对应。骨骼肌活检标本显示红色纤维参差不齐，血管对琥珀酸脱氢酶反应强烈，细胞色素c氧化酶局限性缺乏。50岁时尸检发现肠平滑肌细胞内异常线粒体显著积聚，灶性坏死呈斑点状分布，多发性小脑梗塞伴弥漫性神经元丢失，血管周围白质稀疏。线粒体DNA分析显示3243位点突变。该病例同时表现为线粒体神经胃肠脑肌病和线粒体肌病、脑病、乳酸酸中毒和卒中样发作(MELAS)，提示常规肠道活检可以发现伴有胃肠道损害的线粒体脑肌病。肠道病变主要表现为肌细胞内异常线粒体广泛堆积，散在灶性坏死。
A 40-year-old woman who developed intestinal dysmobility was found, at rectal biopsy, to have marked microvacuolation of mucosal muscle layer cells, which corresponded to increased accumulation of abnormal mitochondria. Skeletal muscle biopsy specimens showed ragged-red fibers, vessels strongly reactive for succinic dehydrogenase, and focal deficiency of cytochrome c oxidase. Autopsy performed at the age of 50 revealed prominent accumulation of abnormal mitochondria in the intestinal smooth muscle cells with a mottled distribution of focal necrosis, multiple small cerebral infarcts with diffuse neuronal loss, and rarefaction of the perivascular white matter. Mitochondrial DNA analysis showed a point mutation at position 3243. This case, showing features of both mitochondrial neurogastrointestinal encephalomyopathy and mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS), indicates that routine intestinal biopsy can detect mitochondrial encephalomyopathy with gastrointestinal involvement. The main intestinal changes were extensive accumulation of abnormal mitochondria in the leiomyocytes and scattered focal necrosis.