Case Reports
[Progressive ptosis in children as a presenting sign of Kearns-Sayre syndrome]
[Article in
Hebrew]
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- PMID: 10883071
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Case Reports
[Progressive ptosis in children as a presenting sign of Kearns-Sayre syndrome]
[Article in
Hebrew]
Harefuah.
.
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.
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