Zoghbi H Y, Spence J E, Beaudet A L, O'Brien W E, Goodman C J, Gibson K M
Ann Neurol. 1986 Sep;20(3):367-9. doi: 10.1002/ana.410200318.
A 6 1/2-month-old male offspring of consanguineous Egyptian parents was first seen because of fever, somnolence, vomiting, right focal motor seizures, right hemiparesis, elevated transaminase levels, hyperammonemia, and acidosis. A computed tomographic scan of the head suggested swelling of the left cerebral hemisphere, and an electroencephalogram indicated left frontotemporal abnormalities, but brain biopsy demonstrated diffuse white matter spongiosis and gliosis. Subsequently, urine organic acid analysis and enzyme assays were diagnostic of 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency.
一名6个半月大的男婴，其父母为近亲结婚的埃及人。患儿因发热、嗜睡、呕吐、右侧局灶性运动性癫痫发作、右侧偏瘫、转氨酶水平升高、高氨血症和酸中毒前来就诊。头部计算机断层扫描显示左脑半球肿胀，脑电图显示左额颞叶异常，但脑活检显示弥漫性白质海绵样变和胶质增生。随后，尿有机酸分析和酶测定确诊为3-羟基-3-甲基戊二酰辅酶A裂解酶缺乏症。
