Late onset MELAS with m.3243A > G mutation and its association with aneurysm formation
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We reported a 53-year-old with late-onset mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) accompanied by aneurysm and large vessel dilations. Most studies have focused on microangiopathy causing stroke-like episodes. We report a case to describe large vessel involvement in clinical considerations, and possible mechanisms of aneurysm formation. We recommended regular angiographic examination for patients with MELAS.
KeywordsMELAS Aneurysm Nitric oxide synthase Apoptosis
mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke like episodes
endothelial nitric oxide synthase
unruptured intracranial aneurysm
digital subtraction angiography
damage associated molecular patterns
cytochrome c oxidase
Compliance with ethical standards
Conflict of interest
The authors declare that they have no conflict of interest.
- Fukuyama K, Ishikawa Y, Ogino T, Inoue H, Yamaoka R, Hirose T, Nishihira T (2012) Mucosal necrosis of the small intestine in myopathy, encephalopathy, lactic acidosis, and stroke-like episodes syndrome. World J Gastroenterol 18:5986–5989. doi: 10.3748/wjg.v18.i41.5986 CrossRefPubMedPubMedCentralGoogle Scholar
- Lindeman JH, Abdul-Hussien H, Schaapherder AF, Van Bockel JH, Von der Thusen JH, Roelen DL, Kleemann R (2008) Enhanced expression and activation of pro-inflammatory transcription factors distinguish aneurysmal from atherosclerotic aorta: IL-6- and IL-8-dominated inflammatory responses prevail in the human aneurysm. Clin Sci (Lond) 114:687–697. doi: 10.1042/CS20070352 CrossRefGoogle Scholar
- Wiebers DO et al. (2003) Unruptured intracranial aneurysms: natural history, clinical outcome, and risks of surgical and endovascular treatment. Lancet (London, England) 362:103–110Google Scholar