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Leigh Syndrome Caused by the MT-ND5 m.13513G>A Mutation: A Case Presenting with WPW-Like Conduction Defect, Cardiomyopathy, Hypertension and Hyponatraemia

  • Marcus BrechtEmail author
  • Malcolm Richardson
  • Ajay Taranath
  • Scott Grist
  • David Thorburn
  • Drago Bratkovic
Case Report
Part of the JIMD Reports book series (JIMD, volume 19)

Abstract

Mitochondrial disease can present with a wide range of clinical phenotypes, and knowledge of the clinical spectrum of mitochondrial DNA mutation is constantly expanding. Leigh syndrome (LS) has been reported to be caused by the m.13513G>A mutation in the ND5 subunit of complex I (MT-ND5 m.13513G>A). We present a case of a 12-month-old infant initially diagnosed with tachyarrhythmia requiring defibrillation, subsequent presentation with hypertension and hyponatraemia secondary to renal salt loss and presumed inappropriate ADH secretion. Complex I activity in the muscle tissue was 54%, and mutation load in the muscle and lymphocytes was 50%. This case of Leigh syndrome caused by the m.13513G>A mutation in the ND5 gene illustrates that hyponatraemia due to renal sodium loss and inappropriate ADH secretion and hypertension can be features of this entity in addition to the previously reported cardiomyopathy and WPW-like conduction pattern and that they present additional challenges in diagnosis and management.

Keywords

Arrhythmia Cardiomyopathy Complex I Hypertension Hyponatraemia Leigh syndrome MT-ND5 m.13513G>A 

Notes

Acknowledgement

The authors thank Dr C.J. Turner, paediatric cardiologist, the Children’s Hospital at Westmead, Sydney, New South Wales, Australia, for providing additional clinical information.

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Copyright information

© SSIEM and Springer-Verlag Berlin Heidelberg 2014

Authors and Affiliations

  • Marcus Brecht
    • 1
    Email author
  • Malcolm Richardson
    • 1
  • Ajay Taranath
    • 1
  • Scott Grist
    • 2
  • David Thorburn
    • 3
  • Drago Bratkovic
    • 1
  1. 1.Women’s and Children’s Hospital AdelaideNorth AdelaideAustralia
  2. 2.Molecular Pathology DepartmentFlinders Medical Centre, Genetics and Molecular Pathology DirectorateBedford ParkAustralia
  3. 3.Murdoch Childrens Research Institute, The Royal Children’s HospitalVictoriaAustralia

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