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目前认为谷胱甘肽过氧化酶缺乏症(GPD)是一种慢性肉芽肿病或特应性药物反应所引起.尤其是急性胰腺炎,用丙戊酸治疗可以使血清脂质过氮化物升高,而过氧化作用可加剧癫痫发作.本文报道4例小儿顽固性癫痫发作,GP活性降低,有感染病史,对抗惊厥药物不能耐受,经证实为GPD.4例患儿均在出生后6个月内出现癫痫发作,尽管临床类型各异,EEG均显示脑部多灶性活动.CT和MRI为进行性脑萎缩.无先天性代谢性缺陷.血清和CSF中铜、铜蓝蛋白、乳酸、丙酮酸盐正常.尿寡糖、粘多糖及唾液酸正常;浆和尿氨基酸正常,溶酶体酶活性正常.无CNS感染,全部病人染色体
It is currently thought that glutathione peroxidase deficiency (GPD) is caused by a chronic granulomatous disease or atopic drug response, especially in acute pancreatitis, where treatment with valproic acid causes hyperlipidemia High, and peroxidation can aggravate seizures.In this paper, 4 cases of pediatric intractable seizures, GP activity decreased, with a history of infection, anticonvulsant drugs can not tolerate, confirmed as GPD.4 cases of children were born after 6 Seizures within a month, EEG showed multifocal brain activity in spite of different clinical types CT and MRI were progressive brain atrophy with no congenital metabolic defects Copper, ceruloplasmin, lactate , Normal pyruvate oligosaccharides, mucopolysaccharide and sialic acid normal; normal plasma and urine amino acids, normal lysosomal enzyme activity. No CNS infection, all patient chromosomes