Shiohama N, Sugita Y, Imamura N, Sato T, Mizuno Y
Department of Neurology, Kohnodai Hospital, Chiba, Japan.
No To Shinkei. 1993 Sep;45(9):865-70.
We report a 19-year-old man with type II citrullinemia triggered by the administration of acetaminophen when he caught a cold. He was admitted to our hospital of impairment of consciousness and abnormal behaviors. On admission he was comatose and laboratory data revealed respiratory alkalosis which was probably induced by hyperammonemia. Liver dysfunction was mild. Plain CT scans showed brain edema, and EEG revealed triphasic waves. Analysis of plasma and urine amino acids showed a significant increase in citrulline and the activity of argininosuccinate synthetase was markedly reduced in a liver biopsy specimen. Histopathology of the liver revealed inflammatory changes which was probably induced by acetaminophen. Branched chain amino acids transfusion was effective for consciousness disturbance, and sodium benzoate was effective for hyperammonemia. We reviewed 28 patients reported in the literature from 1981 to 1992 to evaluate the probable triggering episodes in type II citrullinemia. Four categories of probable trigger were found, which included 1) stress, 2) liver dysfunction, 3) alcohol, and 4) drugs. Avoidance of these triggers, early diagnosis, and treatment seem most important for the good prognosis and the quality of life.
我们报告一例19岁男性,患II型瓜氨酸血症,因感冒服用对乙酰氨基酚而引发。他因意识障碍和行为异常入住我院。入院时他处于昏迷状态,实验室检查显示呼吸性碱中毒,可能是由高氨血症引起的。肝功能损害较轻。普通CT扫描显示脑水肿,脑电图显示三相波。血浆和尿液氨基酸分析显示瓜氨酸显著增加,肝活检标本中精氨琥珀酸合成酶活性明显降低。肝脏组织病理学显示炎症改变,可能是由对乙酰氨基酚引起的。支链氨基酸输血对意识障碍有效,苯甲酸钠对高氨血症有效。我们回顾了1981年至1992年文献报道的28例患者,以评估II型瓜氨酸血症可能的诱发因素。发现了四类可能的诱因,包括1)应激,2)肝功能障碍,3)酒精,4)药物。避免这些诱因、早期诊断和治疗对良好的预后和生活质量似乎最为重要。