Large Mitochondrial DNA Deletion in an Infant with Addison Disease

  • Gloria P. Duran
  • A. Martinez-Aguayo
  • H. Poggi
  • M. Lagos
  • D. Gutierrez
  • P. R. Harris
Case Report
First Online:
Received:
Revised:
Accepted:
Part of the JIMD Reports book series (JIMD, volume 3)

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.

Aim: To report a 3-year-old boy with Addison disease, congenital glaucoma, chronic pancreatitis, and mitochondrial myopathy due to large mitochondrial DNA deletion.

Method: 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.

Keywords

Chronic Pancreatitis Mitochondrial Disease Mitochondrial Myopathy Progressive External Ophthalmoplegia Congenital Glaucoma 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.
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Notes

Acknowledgments

This work was supported by a grant from the Departamento de Laboratorios Clínicos de la Pontificia Universidad Católica de Chile.

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Copyright information

© SSIEM and Springer-Verlag Berlin Heidelberg 2011

Authors and Affiliations

  • Gloria P. Duran
    • 1
  • A. Martinez-Aguayo
    • 1
  • H. Poggi
    • 2
  • M. Lagos
    • 2
  • D. Gutierrez
    • 2
  • P. R. Harris
    • 1
  1. 1.Department of Pediatrics, School of MedicinePontificia Universidad Católica de ChileSantiagoChile
  2. 2.Department of Clinical Laboratories, School of MedicinePontificia Universidad Católica de ChileSantiagoChile

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