[Progressive ptosis in children as a presenting sign of Kearns-Sayre syndrome].
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.
Gal
R
R
Pediatric Neurology Unit, Assaf Harofeh Medical Center.
Lahat
E
E
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*