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已知先天性高乳酸血症的主要原因是丙酮酸的氧化脱羧反应、糖异生系统的酶(主要为丙酮酸羟化酶)、线粒体呼吸链异常等。最近报告有脑脊液中乳酸浓度较血液高,而且脑病变明显的病例,可作为一个临床单元。 Brown等认为,血液乳酸、丙酮酸浓度正常或轻度上升,但在脑脊液中浓度较血液中呈明显高值,基于分析6例脑病变明显患儿,提出了脑性乳酸酸中毒这一临床概念。现将其临床特点、脑病理所见综合如下:6例中3例有子宫内发育不全,全部病例均为低体重儿(小于3百分位数);新生儿期出现肌紧张低下,哺乳困难。幼儿期以后4例可见神经病学方面发育停止,小头症、失明、四肢痉挛性瘫痪;生后数月被确诊的患儿出现特殊面容;3例经头部超声或CT检查,均见明显脑室扩大。
Known congenital hyperlipidemia is mainly due to oxidative decarboxylation of pyruvate, gluconeogenesis enzymes (mainly pyruvate hydroxylase), mitochondrial respiratory chain abnormalities and so on. Recent reports of cerebrospinal fluid concentrations of lactic acid higher than the blood, and brain lesions significantly cases, can be used as a clinical unit. Brown and other that the blood lactic acid, pyruvate concentration normal or mildly elevated, but in cerebrospinal fluid concentration was significantly higher than the blood, based on the analysis of 6 cases of brain lesions in children with obvious clinical concept of lactic acidosis . Now its clinical features, brain pathology, see the synthesis is as follows: 6 cases, 3 cases of uterine hypoplasia, all cases were low birth weight children (less than 3 percentile); neonatal hypotension, breast feeding difficulties . Neuropsychiatric development was stopped in 4 cases after early childhood, microcephaly, blindness and spastic paralysis of limbs. Special face was found in children diagnosed several months after birth. In 3 cases of head ultrasound or CT examination, obvious ventricles expand.