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BMC Neurology
Published in: BMC Neurology 1/2019

Open Access 01-12-2019 | Magnetic Resonance Imaging | Case report

Diagnosis of adult-onset MELAS syndrome in a 63-year-old patient with suspected recurrent strokes – a case report

Authors: Tim Sinnecker, Michaela Andelova, Michael Mayr, Stephan Rüegg, Michael Sinnreich, Juergen Hench, Stephan Frank, André Schaller, Christoph Stippich, Jens Wuerfel, Leo H. Bonati

Published in: BMC Neurology | Issue 1/2019

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Abstract

Background

Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) is a mitochondrial cytopathy caused by mutations in mitochondrial DNA. Clinical manifestation is typically before the age of 40.

Case presentation

We present the case of a 63-year-old female in whom the symptoms of MELAS were initially misdiagnosed as episodes of recurrent ischemic strokes. Brain imaging including MRI, clinical and laboratory findings that lent cues to the diagnosis of MELAS are discussed. In addition, MRI findings in MELAS in comparison to imaging mimics of MELAS are presented.

Conclusions

This case underscores the importance of considering MELAS as a potential cause of recurrent stroke-like events if imaging findings are untypical for cerebral infarction, even among middle-aged patients with vascular risk factors.
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Metadata
Title
Diagnosis of adult-onset MELAS syndrome in a 63-year-old patient with suspected recurrent strokes – a case report
Authors
Tim Sinnecker
Michaela Andelova
Michael Mayr
Stephan Rüegg
Michael Sinnreich
Juergen Hench
Stephan Frank
André Schaller
Christoph Stippich
Jens Wuerfel
Leo H. Bonati
Publication date
01-12-2019
Publisher
BioMed Central
Published in
BMC Neurology / Issue 1/2019
Electronic ISSN: 1471-2377
DOI
https://doi.org/10.1186/s12883-019-1306-6

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