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Báo cáo y học: "Long-term tracking of neurological complications of encephalopathy and myopathy in a patient with nephropathic cystinosis: a case report and review of the literature"

Tuyển tập báo cáo các nghiên cứu khoa học quốc tế ngành y học dành cho các bạn tham khảo đề tài: Long-term tracking of neurological complications of encephalopathy and myopathy in a patient with nephropathic cystinosis: a case report and review of the literature | Journal of Medical Case Reports BioMed Central Open Access Case report Long-term tracking of neurological complications of encephalopathy and myopathy in a patient with nephropathic cystinosis a case report and review of the literature Marcus Muller Andrea Baumeier EB Ringelstein and IW Husstedt Address Department of Neurology Universitatsklinikum Munster Albert-Schweitzer-Strasse D-48129 Munster Germany Email Marcus Muller - marmull@uni-muenster.de Andrea Baumeier - andrea.baumeier@web.de EB Ringelstein - ringels@uni-muenster.de IW Husstedt - husstedt@uni-muenster.de Corresponding author Published 18 July 2008 Received 2 August 2007 Journal of Medical Case Reports 2008 2 235 doi 10.1186 1752-1947-2-235 Accepted 18 July 2008 This article is available from http www.jmedicalcasereports.eom content 2 1 235 2008 Muller et al licensee BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License http creativecommons.org licenses by 2.0 which permits unrestricted use distribution and reproduction in any medium provided the original work is properly cited. Abstract Introduction Cystinosis is a hereditary storage disease resulting in intracellular accumulation of cystine and crystal formation that causes deterioration of the function of many organs. The major clinical symptom is renal failure which progresses and necessitates renal transplantation at the beginning of the second decade of life. Encephalopathy and distal myopathy are important neurological long-term complications with a major impact on the quality of life of these patients. Application of cysteamine is the only specific therapy available it decreases the intracellular cystine level and delays or may even prevent the failure of organ functions. Case presentation We present the case of a 38-year-old woman with cystinosis and the longterm tracking of her neurological .