Tsujii T, Morita T, Matsuyama Y, Matsui T, Tamura M, Matsuoka Y
Gastroenterol Jpn. 1976;11(4):328-40. doi: 10.1007/BF02777374.
Two sibling cases with chronic recurrent hepato-cerebral syndrome which correspond to the nutritional form of hepato-cerebral disease entitled by Shikata et al. and the data of plasma free aminoacids analyses of these cases were reported. The one case is 27 years old male and the other case is 36 years old female. Their parents were cousins. Both cases have had unbalanced diet, especially liked legumes unusually. Their main symptom was recurrent disturbance of conciousness and convulsive seizures. Slight abnormality of liver function test and hyperammonemia were demonstrated. Electroencephalogram showed the pattern of triphasic wave. Coeliac angiography did not revealed a portal-systemic shunt. Hepatic biopsy specimen revealed liver fibrosis with fatty change in the one case and mild fatty change in the other case. Analyses of plasma free aminoacids showed particurally high level of citrulline in both cases. From the results of plasma free aminoacids analyses, it is considered that pathogenesis of these patients is congenital hereditary urea cycle disorders.
报告了两例患有慢性复发性肝脑综合征的同胞病例，这两例病例符合Shikata等人命名的肝脑疾病营养型，同时还报告了这些病例的血浆游离氨基酸分析数据。一例为27岁男性，另一例为36岁女性。他们的父母是近亲。两例病例均饮食不均衡，尤其异常喜欢豆类。他们的主要症状是反复出现意识障碍和惊厥发作。肝功能检查有轻微异常，且存在高氨血症。脑电图显示为三相波模式。腹腔血管造影未发现门体分流。肝活检标本显示，一例有肝纤维化伴脂肪变性，另一例有轻度脂肪变性。血浆游离氨基酸分析显示，两例病例的瓜氨酸水平均特别高。根据血浆游离氨基酸分析结果，认为这些患者的发病机制是先天性遗传性尿素循环障碍。
