Pousse H, Ayachi R, Essoussi A S, el May A, el Amri H
Service de Pédiatrie, Hôpital Farhat Hached, Sousse, Tunisie.
Ann Pediatr (Paris). 1990 Mar;37(3):189-92.
Two cases in the same sibship are reported. The elder patient, who had posterior dislocation of the lens resulting in glaucoma and significant psychomotor retardation, died at the age of 13 with malignant arterial hypertension. Death was caused by thrombotic events (left carotid artery, coronary vessels, renal arteries and arterioles with fibrous endarteritis). The sister, aged 10, had psychomotor retardation and anomalies of both lenses. Chromatographic studies of serum and urine amino acids confirmed the diagnosis of homocystinuria. The form was pyridoxine-sensitive as shown by the results of therapy with pyridoxine and folates. We suggest that homocystinuria, although infrequent, should be routinely looked for in every child with a thrombotic event since a pyridoxine-folate combination is successful in half the cases, preventing the development of complications especially when initiated early.
本文报告了同一家庭中的两例病例。年长的患者晶状体后脱位，导致青光眼和明显的精神运动发育迟缓，13岁时死于恶性动脉高血压。死因是血栓形成事件（左颈动脉、冠状动脉、肾动脉和伴有纤维性动脉内膜炎的小动脉）。10岁的妹妹有精神运动发育迟缓及双眼晶状体异常。血清和尿液氨基酸的色谱分析确诊为同型胱氨酸尿症。维生素B6和叶酸治疗结果显示，该型对维生素B6敏感。我们建议，同型胱氨酸尿症虽不常见，但对于每一位发生血栓形成事件的儿童都应常规进行检查，因为维生素B6和叶酸联合治疗在半数病例中有效，可预防并发症的发生，尤其是早期开始治疗时。
