Hayasaka S, Yabata K, Ohmura M, Nomura H, Takase S
Graefes Arch Clin Exp Ophthalmol. 1984;221(6):262-4. doi: 10.1007/BF02134120.
A young adult patient suddenly began to have episodes of unconsciousness that each lasted for several hours. Brief episodes of lethargy occurred monthly. Biochemical tests disclosed high levels of ammonia and citrulline in the serum. Brain oedema was suggested by CT scan, and optic disc swelling was observed ophthalmoscopically, indicating papilloedema. He died in coma. Deficient activity of argininosuccinate synthetase in the liver was demonstrated. Papilloedema was confirmed histologically. We believe that papilloedema is a serious sign indicating poor prognosis in late-onset citrullinaemia.
一名年轻成年患者突然开始出现意识丧失发作，每次发作持续数小时。每月会出现短暂的嗜睡发作。生化检查显示血清中氨和瓜氨酸水平升高。CT扫描提示脑水肿，眼底镜检查观察到视盘肿胀，提示视乳头水肿。他死于昏迷。证实肝脏中精氨琥珀酸合成酶活性不足。组织学检查证实存在视乳头水肿。我们认为视乳头水肿是晚发性瓜氨酸血症预后不良的严重征象。
