תקציר

Progressive Ptosis in Children as a Presenting Sign of Kearns-Sayre Syndrome 

Ron Gal, Eli Lahat

Pediatric Neurology Unit, Assaf Harofeh Medical Center and Sackler Faculty of Medicine, Tel Aviv University

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.