@article {Bonfante:2017:2637-8329:262, title = "Imaging Findings in Kearns-Sayre Syndrome: A Typical Case of an Infrequent Pathology", journal = "Neurographics", parent_itemid = "infobike://asnr/ng", publishercode ="asnr", year = "2017", volume = "7", number = "4", publication date ="2017-07-01T00:00:00", pages = "262-265", itemtype = "ARTICLE", issn = "2637-8329", eissn = "2637-8329", url = "https://asnr.publisher.ingentaconnect.com/content/asnr/ng/2017/00000007/00000004/art00002", doi = "doi:10.3174/ng.9170214", keyword = "T2WI = T2 weighted image, MR = magnetic resonance, CSF = cerebrospinal fluid, KSS = Kearns-Sayre syndrome, ADC = apparent diffusion coefficient, DWI = diffusion weighted image", author = "Bonfante, E. and Koenig, M.K. and Adejumo, R.B. and Perinjelil, V.J. and Riascos, R.F.", abstract = "We presented an 8-year-old girl referred to our neurometabolic clinic for evaluation after an abnormal MR imaging of the brain suggestive of Kearns-Sayre syndrome. Although the clinical presentation was not typical, the MR imaging findings prompted an investigation that led to a genetic confirmation of this diagnosis.", }