Cysteamine toxicity presenting with acute encephalopathy and spastic tetraparesis.

IF 2.4 Q2 CLINICAL NEUROLOGY

PRACTICAL NEUROLOGY Pub Date : 2024-11-17 DOI:10.1136/pn-2024-004172

Claire Allen, Kirsty Armstrong, David Game, Lucy Kinton

引用次数: 0

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.

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出现急性脑病和痉挛性四肢瘫的半胱胺中毒。

胱氨酸中毒症是一种溶酶体储积症，通常在婴儿期出现肾脏疾病。一经确诊，患者就会开始服用半胱胺（一种胱氨酸消耗药物），从而大大延长了寿命。我们描述了一名因肾病性胱氨酸沉积症而终生服用半胱胺的年轻女性，她因半胱胺中毒而出现急性脑病和痉挛性四肢瘫痪，铜缺乏可能使病情恶化。在补充铜和减少半胱胺剂量后，她的神经功能完全恢复。我们对该病例进行了讨论，并回顾了胱氨酸病和半胱胺中毒的相关知识。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

PRACTICAL NEUROLOGY Medicine-Neurology (clinical)

CiteScore

3.70

自引率

3.60%

发文量

113

期刊介绍： The essential point of Practical Neurology is that it is practical in the sense of being useful for everyone who sees neurological patients and who wants to keep up to date, and safe, in managing them. In other words this is a journal for jobbing neurologists - which most of us are for at least part of our time - who plough through the tension headaches and funny turns week in and week out. Primary research literature potentially relevant to routine clinical practice is far too much for any neurologist to read, let alone understand, critically appraise and assimilate. Therefore, if research is to influence clinical practice appropriately and quickly it has to be digested and provided to neurologists in an informative and convenient way.