Cystinosis

PubMed, the internet portal of biomedical and life sciences literature, published a case report, entitled “Cystinosis: an infrequent cause of distal myopathy“ (Rev Neurol. 2005 Feb 1-15;40(3):156-8). Authors are Rodriguez-Gomez FJ, Lopez-Domonguez JM, Borrero-Martin JJ et al from the Servicio de Medicina Interna, Hospital Juan Ramon Jimenez, 21005 Huelva. Cystinosis is a hereditary disease with clinical symptoms that are caused by the accumulation of cystine crystals in different tissues. Distal vacuolar myopathy has been reported as one of its later complications. The authors present the case of a 20-year-old male diagnosed with cystinosis at the age of 2 years. The patient gradually developed the symptoms of distal vacuolar myopathy. The conclusion is that cystinosis must be included within the differential diagnosis of distal myopathies. To access the abstract, click here.