title: A rare case report of simultaneous presentation of myopathy, Addison's disease, primary hypoparathyroidism, and Fanconi syndrome in a child diagnosed with Kearns-Sayre syndrome.
abstract: Kearns-Sayre syndrome (KSS) is a rare mitochondrial DNA deletion syndrome defined as the presence of ophthalmoplegia, pigmentary retinopathy, onset less than age 20 years, and one of the following: cardiac conduction defects, cerebellar syndrome, or cerebrospinal fluid protein above 100 mg/dl. KSS may affect many organ systems causing endocrinopathies, encephalomyopathy, sensorineural hearing loss, and renal tubulopathy. Clinical presentation at diagnosis is quite heterogeneous and, usually, few organs are affected with progression to generalized disease early in adulthood. We present the case of a boy with KSS presenting at the age of 5 years with myopathy, Addison's disease, primary hypoparathyroidism, and Fanconi syndrome. The proper replacement treatment along with the administration of mitochondrial metabolism-improving agents had a brief ameliorating effect, but gradual severe multisystemic deterioration was inevitable over the next 5 years.
  
  
  CONCLUSIONS
  This report highlights the fact that in case of simultaneous presentation of polyendocrinopathies and renal disease early in childhood, KSS should be considered.
authors.affiliation: Child Health Department, Medical School, University of Ioannina, P.O. Box 1187, 45110 Ioannina, Greece.
authors.forename: Meropi
authors.initials: M
authors.lastname: Tzoufi
authors.forename: Alexandros
authors.initials: A
authors.lastname: Makis
authors.forename: Nikolaos
authors.initials: N
authors.lastname: Chaliasos
authors.forename: Iliada
authors.initials: I
authors.lastname: Nakou
authors.forename: Ekaterini
authors.initials: E
authors.lastname: Siomou
authors.forename: Agathoklis
authors.initials: A
authors.lastname: Tsatsoulis
authors.forename: Anastasia
authors.initials: A
authors.lastname: Zikou
authors.forename: Maria
authors.initials: M
authors.lastname: Argyropoulou
authors.forename: Jean Paul
authors.initials: JP
authors.lastname: Bonnefont
authors.forename: Antigone
authors.initials: A
authors.lastname: Siamopoulou
mesh_terms: D000224:Addison Disease / Q000150:complications / Q000175:diagnosis*; D002648:Child; D003937:Diagnosis, Differential; D005198:Fanconi Syndrome / Q000150:complications / Q000175:diagnosis*; D017809:Fatal Outcome; D006801:Humans; D007011:Hypoparathyroidism / Q000175:diagnosis* / Q000209:etiology; D007625:Kearns-Sayre Syndrome / Q000150:complications / Q000175:diagnosis* / Q000503:physiopathology; D008297:Male; D009135:Muscular Diseases / Q000175:diagnosis