Cochran F B, Sweetman L, Schmidt K, Barsh G, Kraus J, Packman S
Department of Pediatrics, University of California, San Francisco 94143.
Am J Med Genet. 1990 Apr;35(4):519-22. doi: 10.1002/ajmg.1320350415.
Progressive premature atherosclerosis and associated thromboembolic complications are the main causes of morbidity and mortality in patients with homocystinuria. However, thrombosis is rarely the predominant or presenting manifestation leading to the diagnosis of homocystinuria. We report on an otherwise asymptomatic teenage boy of normal intelligence who had a superior sagittal sinus thrombosis documented by CT and MRI scans. He presented with pneumothoraces, papilledema, and transient right hemiparesis. He subsequently developed empyema and necrotizing pneumonia as well as deep venous thromboses. The diagnosis of pyridoxine-unresponsive homocystinuria was made on the basis of clinical chemistry analyses, enzyme assay, and clinical trial. He has remained symptom-free under treatment with betaine and methionine restriction. We suggest that there exists a subset of patients with pyridoxine-unresponsive homocystinuria who are at risk for thromboembolism, but who may remain undiagnosed because of an otherwise mild clinical course.
进行性早发动脉粥样硬化及相关血栓栓塞并发症是同型胱氨酸尿症患者发病和死亡的主要原因。然而，血栓形成很少是导致同型胱氨酸尿症诊断的主要或首发表现。我们报告了一名智力正常、无症状的青少年男性，其经CT和MRI扫描证实存在上矢状窦血栓形成。他出现了气胸、视乳头水肿和短暂性右半身轻瘫。随后他又患上了脓胸、坏死性肺炎以及深静脉血栓形成。根据临床化学分析、酶测定和临床试验，确诊为对吡哆醇无反应的同型胱氨酸尿症。在接受甜菜碱治疗和限制蛋氨酸摄入后，他一直没有症状。我们认为，存在一部分对吡哆醇无反应的同型胱氨酸尿症患者，他们有血栓栓塞风险，但可能因临床过程相对较轻而未被诊断出来。
