{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,11]],"date-time":"2025-09-11T17:48:24Z","timestamp":1757612904590,"version":"3.44.0"},"reference-count":12,"publisher":"BMJ","issue":"6","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["Pract Neurol"],"accepted":{"date-parts":[[2024,5,23]]},"published-print":{"date-parts":[[2024,12]]},"abstract":"<jats:p>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.<\/jats:p>","DOI":"10.1136\/pn-2024-004172","type":"journal-article","created":{"date-parts":[[2024,6,17]],"date-time":"2024-06-17T13:20:42Z","timestamp":1718630442000},"page":"515-518","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["Cysteamine toxicity presenting with acute encephalopathy and spastic tetraparesis"],"prefix":"10.1136","volume":"24","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7789-1479","authenticated-orcid":false,"given":"Claire","family":"Allen","sequence":"first","affiliation":[{"name":"Wessex Neurological Centre, Southampton General Hospital, Tremona Road, University Hospital Southampton NHS Foundation Trust, Southampton, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kirsty","family":"Armstrong","sequence":"additional","affiliation":[{"name":"Department of Nephrology, Southampton General Hospital, Tremona Road, University Hospital Southampton NHS Foundation Trust, Southampton, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David","family":"Game","sequence":"additional","affiliation":[{"name":"Department of Nephrology, Guy's and St Thomas' NHS Foundation Trust, London, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lucy","family":"Kinton","sequence":"additional","affiliation":[{"name":"Wessex Neurological Centre, Southampton General Hospital, Tremona Road, University Hospital Southampton NHS Foundation Trust, Southampton, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2024,6,17]]},"reference":[{"key":"2025090409173437000_24.6.515.1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMra020552"},{"key":"2025090409173437000_24.6.515.2","doi-asserted-by":"crossref","first-page":"571","DOI":"10.1007\/s00467-017-3856-4","article-title":"Effects of long-term cysteamine treatment in patients with cystinosis","volume":"34","author":"Ariceta","year":"2019","journal-title":"Pediatr Nephrol"},{"key":"2025090409173437000_24.6.515.3","doi-asserted-by":"publisher","DOI":"10.1038\/nrneph.2016.182"},{"key":"2025090409173437000_24.6.515.4","doi-asserted-by":"crossref","first-page":"74","DOI":"10.1002\/mus.26726","article-title":"Clinical myopathy in patients with nephropathic cystinosis","volume":"61","author":"Sadjadi","year":"2020","journal-title":"Muscle Nerve"},{"key":"2025090409173437000_24.6.515.5","doi-asserted-by":"crossref","DOI":"10.3389\/fped.2018.00058","article-title":"Nephropathic cystinosis: symptoms, treatment, and perspectives of a systemic disease","volume":"6","author":"B\u00e4umner","year":"2018","journal-title":"Front Pediatr"},{"key":"2025090409173437000_24.6.515.6","doi-asserted-by":"crossref","first-page":"348","DOI":"10.1002\/jimd.12164","article-title":"Central nervous system complications in adult cystinosis patients","volume":"43","author":"Servais","year":"2020","journal-title":"J Inherit Metab Dis"},{"key":"2025090409173437000_24.6.515.7","doi-asserted-by":"crossref","DOI":"10.3389\/fneur.2019.01315","article-title":"Therapeutic applications of cysteamine and cystamine in neurodegenerative and neuropsychiatric diseases","volume":"10","author":"Paul","year":"2019","journal-title":"Front Neurol"},{"key":"2025090409173437000_24.6.515.8","doi-asserted-by":"crossref","first-page":"iv87","DOI":"10.1093\/ndt\/gfu090","article-title":"Nephropathic cystinosis: an international consensus document","volume":"29 Suppl 4","author":"Emma","year":"2014","journal-title":"Nephrol Dial Transplant"},{"key":"2025090409173437000_24.6.515.9","doi-asserted-by":"crossref","first-page":"653","DOI":"10.1016\/j.diii.2013.03.003","article-title":"Cystinosis encephalopathy: MRI perivascular enhancement with micronodular T2* hypointensity","volume":"94","author":"Cazals","year":"2013","journal-title":"Diagn Interv Imaging"},{"key":"2025090409173437000_24.6.515.10","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2011.05.057"},{"key":"2025090409173437000_24.6.515.11","unstructured":"US Food and Drug Administration . Highlights of prescribing information: Procysbi.\u00a0Reference ID: 4630317. 2020."},{"key":"2025090409173437000_24.6.515.12","doi-asserted-by":"crossref","first-page":"754","DOI":"10.1016\/j.jpeds.2013.03.078","article-title":"Copper deficiency in patients with cystinosis with cysteamine toxicity","volume":"163","author":"Besouw","year":"2013","journal-title":"J Pediatr"}],"container-title":["Practical Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/pn-2024-004172","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,9,4]],"date-time":"2025-09-04T16:17:43Z","timestamp":1757002663000},"score":1,"resource":{"primary":{"URL":"https:\/\/pn.bmj.com\/lookup\/doi\/10.1136\/pn-2024-004172"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,6,17]]},"references-count":12,"journal-issue":{"issue":"6","published-online":{"date-parts":[[2024,11,17]]},"published-print":{"date-parts":[[2024,12]]}},"alternative-id":["10.1136\/pn-2024-004172"],"URL":"https:\/\/doi.org\/10.1136\/pn-2024-004172","relation":{},"ISSN":["1474-7758","1474-7766"],"issn-type":[{"type":"print","value":"1474-7758"},{"type":"electronic","value":"1474-7766"}],"subject":[],"published":{"date-parts":[[2024,6,17]]}}}