Abstract：
Cystinosis is a lysosomal storage disorder usually presenting with renal disease in infancy. As soon as the diagnosis is made, cysteamine (a cystine-depleting medication), is started, significantly improving life expectancy. We describe a young woman taking lifelong cysteamine for nephropathic cystinosis, who became acutely encephalopathic with a spastic tetraparesis secondary to cysteamine toxicity, which was potentially worsened by copper deficiency. On replacing copper and reducing the dose of cysteamine, she made a full neurological recovery. We discuss the case, and review cystinosis and what is known about cysteamine toxicity.
摘要：
胱抑素病是一种溶酶体贮积症，通常在婴儿期伴有肾脏疾病。一旦做出诊断，半胱胺（消耗胱氨酸的药物），开始了，显著提高预期寿命。我们描述了一名年轻女子终生服用半胱胺治疗肾病性膀胱炎，继发于半胱胺毒性的痉挛性四瘫急性脑病，铜缺乏可能会恶化。关于替代铜和减少半胱胺的剂量，她的神经完全康复了.我们讨论这个案子,并回顾胱氨酸病和半胱胺毒性的已知情况。
