title: Large mitochondrial DNA deletion in an infant with addison disease.
abstract: BACKGROUND
  Mitochondrial diseases are a group of disorders caused by mutations in nuclear DNA or mitochondrial DNA, usually involving multiple organ systems. Primary adrenal insufficiency due to mitochondrial disease is extremely infrequent and has been reported in association with mitochondrial DNA deletion syndromes such as Kearns-Sayre syndrome.
  
  
  OBJECTIVE
  To report a 3-year-old boy with Addison disease, congenital glaucoma, chronic pancreatitis, and mitochondrial myopathy due to large mitochondrial DNA deletion.
  
  
  METHODS
  Molecular analysis of mitochondrial DNA samples obtained from peripheral blood, oral mucosa, and muscle tissue.
  
  
  RESULTS
  A novel large mitochondrial DNA deletion of 7,372bp was identified involving almost all genes on the big arch of mtDNA.
  
  
  CONCLUSIONS
  This case reaffirms the association of adrenal insufficiency and mitochondrial DNA deletions and presents new evidence that glaucoma is another manifestation of mitochondrial diseases. Due to the genetic and clinical heterogeneity of mitochondrial disorders, molecular analysis is crucial to confirm diagnosis and to allow accurate genetic counseling.
authors: Department of Pediatrics, School of Medicine, Pontificia Universidad Católica de Chile, Lira 85, 5 piso, 833-0074, Santiago, Chile, gduran@med.puc.cl.
authors: Gloria P
authors: GP
authors: Duran
authors: A
authors: A
authors: Martinez-Aguayo
authors: H
authors: H
authors: Poggi
authors: M
authors: M
authors: Lagos
authors: D
authors: D
authors: Gutierrez
authors: P R
authors: PR
authors: Harris