%0 Journal Article
%T Cysteamine toxicity presenting with acute encephalopathy and spastic tetraparesis.
%A Allen C
%A Armstrong K
%A Game D
%A Kinton L
%J Pract Neurol
%V 0
%N 0
%D 2024 Jun 17
%M 38886048
暂无%R 10.1136/pn-2024-004172
%X 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.