雑誌文献を検索します。書籍を検索する際には「書籍検索」を選択してください。

検索

書誌情報 詳細検索 by 医中誌

Japanese

THREE CASES OF JUVENILE HEPATO-CEREBRAL DEGENERATION WITH CITRULLINEMIA Yoshiro Saito 1 , Naohiko Takahata 1 , Nozomi Suwa 1 , Nobuhiro Nishi 2 , Nobuhiro Nishioka 3 , Norio Kakegawa 4 , Tetsuhiro Ito 5 , Mizuho Katagiri 6 1Department of Psychiatry and Neurology, Hokkaido University School of Medicine 2Nishi Hospital 3Shibetsu Municipal Hospital 4Tokachi Sanatorium 5Midorigaoka Hospital 6Department of Psychiatry, Juntendo University pp.263-270
Published Date 1976/3/1
DOI https://doi.org/10.11477/mf.1406203854
  • Abstract
  • Look Inside

It has been pointed out that some patients with juvenile Hepato-Cerebral Degeneration (Inose type) might bear congenital abnormalities in their amino-acid metabolism. However, knowledge about this point is still very little. In this report a patho-genic and pathoplastic discussion with regard to Hepato-Cerebral Degeneration with citrullinemia is presented.

The authors recently observed clinical courses in detail of three female patients with citrullinemia who had showed a tendency for peculiar unbalanced diets, mental and physical retardation and vomit-ting from their early life. They were admitted to the hospital after complaining of loss of cons-ciousness in varied degrees accompanied by nightcrying, irritability, excitation, hallucination, delu-sion or convulsion etc. at 9,18 and 22 years of age respectively. In all cases, livers were enlarged to 3 cm below the costal margin without any signi-ficant dysfunction. Liver biopsy of one case revealed fatty infiltration, cystes and hepatoma. Neuro-logically, hypotonia, hypertonia or spastic paresis of limbs were found. EEG revealed a generalised dysrhythmia often associated with high voltage slow waves or triphasic waves during unconscious-ness. The cupper metabolism was normal and Keyser-Fleisher's ring was not observed. The sequence of unconsciousness and coma suggested an impairment of ammonia metabolism. This was confirmed by the high level of plasma ammonia. Also the level of plasma citrulline (104-327 umole/l) was higher than control (17-41), and the activity of arginosuccinic acid synthetase (18 umole/60 min./ g wet liver) in one case was lower (43-84). Two cases are (20 and 24 years of age) under low protein diets, but one case died at 31 (necropsy was not performed).

It is supposed that the mental and physical re-tardation from infancy in these cases is attributable to the congenital derangement in urea cycle and the disorder of consciousness later manifested re-sulted from the toxic effect of ammonia. Citrulline-mia strictly departs from the present conception of Hepato-Cerebral Degeneration. However, it is con-ceivable that some patients with citrullinemia may closely resemble Hepato-Cerebral Degeneration in clinical manifestations just as the cases presented.


Copyright © 1976, Igaku-Shoin Ltd. All rights reserved.

基本情報

電子版ISSN 2185-405X 印刷版ISSN 0006-8969 医学書院

関連文献

もっと見る

文献を共有