title: [Progressive ptosis in children as a presenting sign of Kearns-Sayre syndrome].
abstract: Mitochondrial encephalopathies represent a heterogeneous group of various neurological syndromes caused by defects in mitochondrial metabolism. All clinical syndromes can be subdivided by type of biochemical defect into 3 subgroups: defective oxidation, defects in pyruvate metabolism and various defects in the respiratory chain. We present a 12-year-old girl admitted for evaluation of progressive ptosis over a period of 3 years, diagnosed as having the rare mitochondrial encephalopathy, Kearns-Sayre syndrome.
authors.affiliation: Pediatric Neurology Unit, Assaf Harofeh Medical Center.
authors.forename: R
authors.initials: R
authors.lastname: Gal
authors.forename: E
authors.initials: E
authors.lastname: Lahat
mesh_terms: D001763:Blepharoptosis / Q000209:etiology*; D002648:Child; D030401:Cytochrome-c Oxidase Deficiency; D003937:Diagnosis, Differential; D018450:Disease Progression; D005260:Female; D006801:Humans; D007625:Kearns-Sayre Syndrome / Q000175:diagnosis*