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Seishin Igaku Volume 33, Issue 5 （May 1991）

精神医学 33巻5号（1991年5月発行）

Japanese English

研究と報告

アルギニノコハク酸合成酵素欠損症による肝脳疾患の1剖検例 An Autopsy Case of Hepatocerebral Disease due to Argininosuccinate Synthetase Deficiency 伊藤陽 ¹ , 村松公美子 ¹ , 森茂紀 ² , 青柳豊 ² , 佐藤啓一 ³ , 若林孝一 ⁴ , 大浜栄作 ⁴ Noboru Itoh ¹ , Kumiko Muramatsu ¹ , Shigenori Mori ² , Yutaka Aoyagi ² , Keiichi Satoh ³ , Koh-ichi Wakabayashi ⁴ , Eisaku Ohhama ⁴ ¹新潟大学医学部精神医学教室 ²新潟大学医学部内科学第三教室 ³新潟大学医学部病理学第二教室 ⁴新潟大学脳研究所実験神経病理学部門 ¹Department of Psychiatry, Niigata University, School of Medicine ²The Third Department of Internal Medicine, Niigata University, School of Medicine ³The Second Department of Pathology, Niigata University, School of Medicine ⁴Department of Pathology, Niigata University, Brain Research Institute キーワード： Citrullinemia , Hyperammonemia , Argininosuccinate synthetase deficiency , Neuropathological findings of hepatocerebral disease Keyword: Citrullinemia , Hyperammonemia , Argininosuccinate synthetase deficiency , Neuropathological findings of hepatocerebral disease pp.511-519

発行日 1991年5月15日 Published Date 1991/5/15

DOI https://doi.org/10.11477/mf.1405904933

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Abstract 文献概要
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　【抄録】　挿間性の意識障害と高アンモニア血症を繰り返し，急性脳浮腫で死亡した43歳の成人型高シトルリン血症の1例を報告した。本例は生検による肝の酵素活性分析と剖検による腎の酵素分析の結果，尿素サイクルのargininosuccinate synthetase（ASS）の量の欠乏を病因とするtype Ⅱ高シトルリン血症と診断された。主な剖検所見として肝には脂肪変性，脳には著しい脳腫脹と，肝脳疾患の断血型類似の病変が見出された。ASS欠損症による肝脳疾患の脳病理を中心に考察した。

　A case of a 43 year-old man with recurrent episodes of disturbed consciousness and hyperammonemia was presented. From childhood he had a marked like for peanuts. Per cutaneous transhepatic portography failed to reveal a portacaval shunt. The aminograms in plasma and urine showed a highly elevated level of citrulline with slightly increased arginine. In a biopsy sample of his liver, the argininosuccinate synthetase (ASS) activity had decreased to 2% of the normal liver, but that of his autopsied kidney was normal. The other four enzymes of the urea cycle were all normal. This case was diagnosed bioenzymatically as a type Ⅱ adult citrullinemia (“quantitative-type citrullinemia”).

　Following variable deammonization therapy, he abruptly fell into a semicomatose state and died of acute brain edema. Necropsy revealed fatty degeneration of the liver. Neuropathologically, severe brain swelling and diffuse neuronal shrinkage were shown in the frontal and temporal cortex, especially in the ravine of the sulci. Alzheimer's type Ⅱ glias with PAS- or best carmine-positive intranuclear inclusions were found in the entire cerebral cortex and basal ganglia. The above mentioned neuropathological findings were considered to be similar to those in ischemic type of hepatocerebral disease.