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Free Content Imaging Findings in Kearns-Sayre Syndrome: A Typical Case of an Infrequent Pathology

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.
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