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.
Competing interests: None declared
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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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Communicated by: Wolfgang Sperl, MD, PhD
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Marcus Brecht, Malcolm Richardson, Ajay Taranath, Scott Grist, David Thorburn and Drago Bratkovic declare that they have no conflict of interest.
This article does not contain any studies with human or animal subjects performed by the any of the authors.
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Additional informed consent was obtained from the carers of the patient for whom potentially identifying information is included in this article.
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Dr Brecht managed the patient during admission, conceived the article and wrote the first draft of the manuscript; Dr Richardson performed and interpreted serial echocardiograms, provided the echocardiogram and edited the manuscript; Dr Taranath interpreted the cranial MRI, selected the MRI image and edited the manuscript; Dr Grist oversaw mitochondrial DNA analysis and edited the manuscript; Prof Thorburn oversaw and interpreted the respiratory chain enzymology assay and tissue mitochondrial DNA analysis and edited the manuscript; Dr Bratkovic oversaw overall patient management, coordinated testing, discussed and revised the manuscript.
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Brecht, M., Richardson, M., Taranath, A., Grist, S., Thorburn, D., Bratkovic, D. (2014). Leigh Syndrome Caused by the MT-ND5 m.13513G>A Mutation: A Case Presenting with WPW-Like Conduction Defect, Cardiomyopathy, Hypertension and Hyponatraemia. In: Zschocke, J., Baumgartner, M., Morava, E., Patterson, M., Rahman, S., Peters, V. (eds) JIMD Reports, Volume 19. JIMD Reports, vol 19. Springer, Berlin, Heidelberg. https://doi.org/10.1007/8904_2014_375
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DOI: https://doi.org/10.1007/8904_2014_375
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