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Case ReportCase Reports and Clinical Observations

Mitochondrial Encephalomyopathy With Lactic Acidosis and Stroke-Like Episodes—MELAS Syndrome

Caitlin Henry, Neema Patel, William Shaffer, Lillian Murphy, Joe Park and Bradley Spieler
Ochsner Journal September 2017, 17 (3) 296-301;
Caitlin Henry
1Louisiana State University Health Sciences Center, School of Medicine, New Orleans, LA
MS
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Neema Patel
2Department of Radiology, Mayo Clinic Hospital, Jacksonville, FL
MD
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William Shaffer
3Department of Radiology, Slidell Memorial Hospital, Slidell, LA
MD
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Lillian Murphy
4Department of Radiology, Louisiana State University Health Sciences Center, New Orleans, LA
MD
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Joe Park
4Department of Radiology, Louisiana State University Health Sciences Center, New Orleans, LA
MD
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Bradley Spieler
4Department of Radiology, Louisiana State University Health Sciences Center, New Orleans, LA
MD
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REFERENCES

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    1. Goto Y,
    2. Nonaka I,
    3. Horai S
    A mutation in the tRNA (Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies. Nature. 1990 12 13; 348 6302: 651- 653. pmid:2102678
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    1. Wang YX,
    2. Le WD
    Progress in diagnosing mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes. Chin Med J (Engl). 2015 7 5; 128 13: 1820- 1825. doi: 10.4103/0366-6999.159360. pmid:26112726
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    1. Sproule DM,
    2. Kaufmann P
    Mitochondrial encephalopathy, lactic acidosis, and strokelike episodes: basic concepts, clinical phenotype, and therapeutic management of MELAS syndrome. Ann N Y Acad Sci. 2008 10; 1142: 133- 158. doi: 10.1196/annals.1444.011. Erratum in: Ann N Y Acad Sci. 2009 Apr;1161:601. pmid:18990125
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    The UK MRC Mitochondrial Disease Patient Cohort Study: clinical phenotypes associated with the m.3243A>G mutation--implications for diagnosis and management. J Neurol Neurosurg Psychiatry. 2013 8; 84 8: 936- 938. doi: 10.1136/jnnp-2012-303528. pmid:23355809
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    1. Ito H,
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    Neuroimaging of stroke-like episodes in MELAS. Brain Dev. 2011 4; 33 4: 283- 288. doi: 10.1016/j.braindev.2010.06.010. pmid:20609541
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    MR OEF imaging in MELAS. Methods Enzymol. 2014; 547: 433- 444. doi: 10.1016/B978-0-12-801415-8.00021-7. pmid:25416369
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    1. Yu L,
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    Quantitative measurement of cerebral oxygen extraction fraction using MRI in patients with MELAS. PloS One. 2013 11 8; 8 11: e79859 doi: 10.1371/journal.pone.0079859. pmid:24260310
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    1. Li R,
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    J J Wang D, Ma L, Lou X. Differential diagnosis of mitochondrial encephalopathy with lactic acidosis and stroke-like episodes (MELAS) and ischemic stroke using 3D pseudocontinuous arterial spin labeling. J Magn Reson Imaging. 2017 1; 45 1: 199- 206. doi: 10.1002/jmri.25354. pmid:27348222
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    1. El-Hattab AW,
    2. Adesina AM,
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    MELAS syndrome: clinical manifestations, pathogenesis, and treatment options. Mol Genet Metab. 2015 Sep-Oct; 116 1-2: 4- 12. doi: 10.1016/j.ymgme.2015.06.004. pmid:26095523
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    1. El-Hattab AW,
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    Restoration of impaired nitric oxide production in MELAS syndrome with citrulline and arginine supplementation. Mol Genet Metab. 2012 4; 105 4: 607- 614. doi: 10.1016/j.ymgme.2012.01.016. pmid:22325939
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    1. Yoneda M,
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    In vivo functional brain imaging and a therapeutic trial of L-arginine in MELAS patients. Biochim Biophys Acta. 2012 5; 1820 5: 615- 618. doi: 10.1016/j.bbagen.2011.04.018. pmid:21600268
    OpenUrlCrossRefPubMed
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Mitochondrial Encephalomyopathy With Lactic Acidosis and Stroke-Like Episodes—MELAS Syndrome
Caitlin Henry, Neema Patel, William Shaffer, Lillian Murphy, Joe Park, Bradley Spieler
Ochsner Journal Sep 2017, 17 (3) 296-301;

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Mitochondrial Encephalomyopathy With Lactic Acidosis and Stroke-Like Episodes—MELAS Syndrome
Caitlin Henry, Neema Patel, William Shaffer, Lillian Murphy, Joe Park, Bradley Spieler
Ochsner Journal Sep 2017, 17 (3) 296-301;
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Cited By...

  • Letter to the Editor: Diagnosing Mitochondrial Encephalomyopathy With Lactic Acidosis and Stroke-Like Episodes (MELAS) Requires Not Only Phenotypic But Also Genotypic Verification
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Keywords

  • MELAS syndrome
  • mitochondrial diseases
  • mitochondrial encephalomyopathy

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