{Reference Type}: Journal Article
{Title}: Cysteamine toxicity presenting with acute encephalopathy and spastic tetraparesis.
{Author}: Allen C;Armstrong K;Game D;Kinton L;
{Journal}: Pract Neurol
{Volume}: 0
{Issue}: 0
{Year}: 2024 Jun 17
暂无{DOI}: 10.1136/pn-2024-004172
{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.