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烟雾病综合征患儿的NADH-辅酶Q还原酶活性受损。

Impaired NADH-CoQ reductase activity in a child with moyamoya syndrome.

作者信息

Kotagal S, Peterson P L, Martens M E, Lee C P, Nigro M, Archer C R

机构信息

Department of Neurology, St. Louis University Medical Center, MO 63110.

出版信息

Pediatr Neurol. 1988 Jul-Aug;4(4):241-4. doi: 10.1016/0887-8994(88)90038-0.

DOI:10.1016/0887-8994(88)90038-0
PMID:3149483
Abstract

A 33-month-old boy with recurrent stroke-like episodes had angiographic features characteristic of moyamoya syndrome. Mitochondrial encephalomyopathy was suspected because of lactic acidosis and ptosis. Studies of oxidative metabolism on isolated skeletal muscle mitochondria revealed impairment of NADH-coenzyme Q reductase activity. Mitochondrial metabolic disorders may cause moyamoya syndrome when other known associated factors are absent.

摘要

一名33个月大的男孩反复出现类似中风的发作，其血管造影特征符合烟雾病综合征。由于乳酸酸中毒和上睑下垂，怀疑有线粒体脑肌病。对分离的骨骼肌线粒体进行的氧化代谢研究显示NADH-辅酶Q还原酶活性受损。当不存在其他已知相关因素时，线粒体代谢紊乱可能导致烟雾病综合征。

相似文献

1
Impaired NADH-CoQ reductase activity in a child with moyamoya syndrome.烟雾病综合征患儿的NADH-辅酶Q还原酶活性受损。
Pediatr Neurol. 1988 Jul-Aug;4(4):241-4. doi: 10.1016/0887-8994(88)90038-0.
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Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes syndrome and NADH-CoQ reductase deficiency.线粒体肌病、脑病、乳酸酸中毒和卒中样发作综合征以及NADH-辅酶Q还原酶缺乏症。
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[Complex I (NADH coenzyme-Q-reductase) deficiency, MELAS syndrome and hypertrophic cardiomyopathy].
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Two cases of NADH-coenzyme Q reductase deficiency: relationship to MELAS syndrome.两例NADH-辅酶Q还原酶缺乏症：与线粒体脑肌病伴乳酸血症和卒中样发作综合征的关系
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Acta Neurol Scand. 1989 Dec;80(6):561-8. doi: 10.1111/j.1600-0404.1989.tb03927.x.

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Early-onset stroke with moyamoya-like syndrome and extraneurological signs: a first reported paediatric series.早发型烟雾病样综合征伴发颅外神经系统症状的脑卒中：首报儿科系列病例
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