Progressive ptosis in children as a presenting sign of Kearns-Sayre syndrome

Gal, R.; Lahat, E.

Harefuah 138(2): 108


ISSN/ISBN: 0017-7768
PMID: 10883071
Document Number: 525233
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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