Hayasaka S, Asano Y, Tateda H, Hoshi K, Koga Y
Acta Ophthalmol (Copenh). 1984 Jun;62(3):425-31. doi: 10.1111/j.1755-3768.1984.tb08422.x.
A 6-year-old girl had bilaterally subluxated lenses and liver and platelet dysfunctions. A cyanide-nitroprusside test of the urine was positive. Serum and urinary levels of methionine and homocystine were high. Cystathionine synthetase activity in the cultured skin fibroblasts was negligible. Pyridoxine, 1000 mg/day orally, normalized the serum and urinary methionine and homocystine levels and the liver and platelet functions. Episodes of pupillary block glaucoma prompted lens extraction. The subluxated lenses were extracted under general anaesthesia after administration of pyridoxine and dextran to avoid thrombosis. A good result without serious complications was obtained. We believe that homocystinuria should not be considered a contra-indication to general anaesthesia. In the pyridoxine-responsive patient general anaesthesia is not hazardous if platelet function can be controlled by the vitamin.
一名6岁女孩出现双侧晶状体半脱位以及肝脏和血小板功能障碍。尿液氰化物 - 硝普钠试验呈阳性。血清和尿液中的蛋氨酸和同型胱氨酸水平升高。培养的皮肤成纤维细胞中的胱硫醚合成酶活性可忽略不计。口服1000毫克/天的吡哆醇可使血清和尿液中的蛋氨酸和同型胱氨酸水平以及肝脏和血小板功能恢复正常。瞳孔阻滞性青光眼发作促使进行晶状体摘除。在给予吡哆醇和右旋糖酐以避免血栓形成后，在全身麻醉下摘除半脱位的晶状体。获得了良好的效果且无严重并发症。我们认为同型胱氨酸尿症不应被视为全身麻醉的禁忌证。在对吡哆醇有反应的患者中，如果血小板功能可通过维生素得到控制，全身麻醉并无危险。
