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Báo cáo y học: " De Toni-Debré-Fanconi syndrome in a patient with Kearns-Sayre syndrome: a case report"

Tuyển tập báo cáo các nghiên cứu khoa học quốc tế ngành y học dành cho các bạn tham khảo đề tài: De Toni-Debré-Fanconi syndrome in a patient with Kearns-Sayre syndrome: a case report | Journal of Medical Case Reports BioMed Central Open Access Case report De Toni-Debre-Fanconi syndrome in a patient with Kearns-Sayre syndrome a case report Cristina Maria Mihai 1 Doina Catrinoiu2 Marius Toringhibel3 Ramona Mihaela Stoicescu4 and Anca Hancu5 Address 1Pediatric Department for Diabetes Nutrition and Metabolic Disorders in Children Ovidius University Constanta Faculty of Medicine 900591 Constanta Romania 2Adult Department for Diabetes Nutrition and Metabolic Disorders in Adults Ovidius University Constanta Faculty of Medicine 900591 Constanta Romania 3Department of Cardiology Ovidius University Constanta Faculty of Medicine 900591 Constanta Romania 4Laboratory Department Ovidius University Constanta Faculty of Medicine 900591 Constanta Romania and department of Neurology Ovidius University Constanta Faculty of Medicine 900591 Constanta Romania Email Cristina Maria Mihai - cristina2603@yahoo.com Doina Catrinoiu - doinac@seanet.ro Marius Toringhibel - marius_zorn@yahoo.com Ramona Mihaela Stoicescu - ramonastoicescu2003@yahoo.com Anca Hancu - hancuanca@hotmail.com Corresponding author Published 3 November 2009 Received 27 November 2008 Journal of Medical Case Reports 2009 3 101 doi 10.1186 1752-1947-3-101 Accepted 3 November 2009 This article is available from http www.jmedicalcasereports.com content 3 1 101 2009 Mihai 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 Kearns-Sayre syndrome is a mitochondrial myopathy that demonstrates chronic progressive ophthalmoplegia with onset before the age of 20 and pigmentary degeneration of the retina. Case presentation We report the case of an 18-year-old Romanian man with short stature external ophthalmoplegia palpebral ptosis myopathy .