title: [Ptosis as the leading symptom of Kearns-Sayre syndrome. A case report for differential diagnosis of external ophthalmoplegia].
abstract: Progressive external ophthalmoplegia has generally been considered a brainstem syndrome, but new investigative techniques have identified a variety of etiologies. We report a 17-year-old girl in whom Kearns-Sayre syndrome presented as unilateral ptosis with progression to bilateral ptosis, and discuss the clinical, biochemical, electrophysiological, histopathological and computerized tomographical findings.
authors.affiliation: Abteilung für Neuropädiatrie, Medizinischen Akademie Carl Gustav Carus, Dresden.
authors.forename: K
authors.initials: K
authors.lastname: Vock
authors.forename: H
authors.initials: H
authors.lastname: Todt
authors.forename: R
authors.initials: R
authors.lastname: Fötzsch
authors.forename: R
authors.initials: R
authors.lastname: Fischer
mesh_terms: D000293:Adolescent; D001706:Biopsy; D001763:Blepharoptosis / Q000209:etiology*; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D007625:Kearns-Sayre Syndrome / Q000150:complications* / Q000175:diagnosis; D009132:Muscles / Q000473:pathology; D009886:Ophthalmoplegia / Q000150:complications*
vernacular_title: Ptosis als Leitsymptom eines Kearns-Sayre-Syndroms. Ein kasuistischer Beitrag zur Differentialdiagnosa der äusseren Ophthalmoplegie.