title: Kearns Sayre syndrome: an unusual form of mitochondrial diabetes.
abstract: Kearns Sayre syndrome (KSS) is a mitochondrial disorder characterized by the emergence before age 20 of progressive external ophthalmoplegia, pigmentary retinopathy, together with other heterogeneous clinical manifestations, including cardiac conduction defects, muscle abnormalities and endocrinopathies. KSS is associated with large heteroplasmic deletions in mitochondrial DNA. We report the case of a 43-year-old woman, with diabetes mellitus as a first manifestation at age 19. Later, she exhibited bilateral ptosis and external ophthalmoplegia with progressive worsening. DNA analysis identified a large mitochondrial DNA (mtDNA) deletion, which confirmed the diagnosis of KSS. By reporting this case with diabetes mellitus as first manifestation, we aim at emphasizing problems of diagnosis in these subtypes of mitochondrial diabetes.
authors.affiliation: Department of Internal Medicine-Diabetes and Metabolic Diseases, Hôpital Lariboisière, Paris, France. marie.laloi-michelin@lrb.ap-hop-paris.fr
authors.forename: M
authors.initials: M
authors.lastname: Laloi-Michelin
authors.forename: M
authors.initials: M
authors.lastname: Virally
authors.forename: C
authors.initials: C
authors.lastname: Jardel
authors.forename: T
authors.initials: T
authors.lastname: Meas
authors.forename: I
authors.initials: I
authors.lastname: Ingster-Moati
authors.forename: A
authors.initials: A
authors.lastname: Lombès
authors.forename: P
authors.initials: P
authors.lastname: Massin
authors.forename: H
authors.initials: H
authors.lastname: Chabriat
authors.forename: A
authors.initials: A
authors.lastname: Tielmans
authors.forename: J
authors.initials: J
authors.lastname: Mikol
authors.forename: P J
authors.initials: PJ
authors.lastname: Guillausseau
mesh_terms: D001706:Biopsy; D003920:Diabetes Mellitus / Q000175:diagnosis*; D016640:Diabetes, Gestational / Q000188:drug therapy; D005260:Female; D006801:Humans; D007328:Insulin / Q000627:therapeutic use; D007625:Kearns-Sayre Syndrome / Q000209:etiology* / Q000473:pathology; D008875:Middle Aged; D018482:Muscle, Skeletal / Q000473:pathology; D011247:Pregnancy
chemical_list: D007328:Insulin