Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS)
Definitions
Inherited disorder of intracellular energy production caused by point mutations in mitochondrial DNA (mtDNA)
IMAGING
General Features
CT Findings
MR Findings
Angiographic Findings
Nuclear Medicine Findings
Other Modality Findings
Imaging Recommendations
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
Gross Pathologic & Surgical Features
Microscopic Features
CLINICAL ISSUES
Presentation
Demographics
Natural History & Prognosis
Treatment
DIAGNOSTIC CHECKLIST
Consider
Image Interpretation Pearls
Selected References
Finsterer J: Mitochondrial metabolic stroke: phenotype and genetics of stroke-like episodes. J Neurol Sci. 400:135-41, 2019
Miyahara H et al: Autopsied case with MERRF/MELAS overlap syndrome accompanied by stroke-like episodes localized to the precentral gyrus. Neuropathology. 39(3)-212-17, 2019
Li Y et al: Current insight into MELAS: clinical perspectives and multimodal MRI. J Magn Reson Imaging. 47(2):583-4, 2018
Finsterer J et al: Focal and generalized seizures may occur in mitochondrial encephalomyopathy, lactic acidosis, andstrokelike episodes (MELAS) patients. J Child Neurol. 30(11):1553-4, 2015
Minobe S et al: Vasodilatation of multiple cerebral arteries in early stage of stroke-like episode with MELAS. J Clin Neurosci. 22(2):407-8, 2015
Rodan LH et al: Cerebral hyperperfusion and decreased cerebrovascular reactivity correlate with neurologic disease severity in MELAS. Mitochondrion. 22:66-74, 2015
Corr A et al: MELAS, an important consideration in the adult population presenting with unusual and recurrent stroke-like episodes. BMJ Case Rep. 2014
Leng Y et al: The mitochondrial DNA 10197 G>A mutation causes MELAS/Leigh overlap syndrome presenting with acute auditory agnosia. Mitochondrial DNA. 26(2):208-12, 2014
Prasad M et al: MELAS: A multigenerational impact of the MTTL1 A3243G MELAS mutation. Can J Neurol Sci. 41(2):210-9, 2014
Sofou K et al: MRI of the brain in childhood-onset mitochondrial disorders with central nervous system involvement. Mitochondrion. 13(4):364-71, 2013
Chen C et al: A study of familial MELAS: evaluation of A3243G mutation, clinical phenotype, and magnetic resonance spectroscopy-monitored progression. Neurol India. 60(1):86-9, 2012
Goodfellow JA et al: Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes: an important cause of stroke in young people. Postgrad Med J. 88(1040):326-34, 2012
Rikimaru M et al: Taurine ameliorates impaired the mitochondrial function and prevents stroke-like episodes in patients with MELAS. Intern Med. 51(24):3351-7, 2012
Tsujikawa T et al: Crossed cerebellar hyperperfusion after MELAS attack followed up by whole brain continuous arterial spin labeling perfusion imaging. Acta Radiol. 53(2):220-2, 2012
Wang Z et al: MR evaluation of cerebral oxygen metabolism and blood flow in stroke-like episodes of MELAS. J Neurol Sci. 323(1-2):173-7, 2012
Kaufmann P et al: Natural history of MELAS associated with mitochondrial DNA m.3243A>G genotype. Neurology. 77(22):1965-71, 2011
Kim JH et al: Diffusion and perfusion characteristics of MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episode) in thirteen patients. Korean J Radiol. 2011 Jan-Feb;12(1):15-24. Epub 2011 Jan 3. Erratum in: Korean J Radiol. 12(2):268, 2011
Friedman SD et al: The use of neuroimaging in the diagnosis of mitochondrial disease. Dev Disabil Res Rev. 16(2):129-35, 2010
Abe K et al: Comparison of conventional and diffusion-weighted MRI and proton MR spectroscopy in patients with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like events. Neuroradiology. 46(2):113-7, 2004
Iizuka T et al: Slowly progressive spread of the stroke-like lesions in MELAS. Neurology. 61(9):1238-44, 2003
Sparaco M et al: MELAS: clinical phenotype and morphological brain abnormalities. Acta Neuropathol (Berl). 106(3):202-12, 2003
Wang XY et al: Serial diffusion-weighted imaging in a patient with MELAS and presumed cytotoxic oedema. Neuroradiology. 45(9):640-3, 2003
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References
Tables
Tables
KEY FACTS
Terminology
Imaging
Pathology
Clinical Issues
Diagnostic Checklist
TERMINOLOGY
Abbreviations
Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS)
Definitions
Inherited disorder of intracellular energy production caused by point mutations in mitochondrial DNA (mtDNA)
IMAGING
General Features
CT Findings
MR Findings
Angiographic Findings
Nuclear Medicine Findings
Other Modality Findings
Imaging Recommendations
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
Gross Pathologic & Surgical Features
Microscopic Features
CLINICAL ISSUES
Presentation
Demographics
Natural History & Prognosis
Treatment
DIAGNOSTIC CHECKLIST
Consider
Image Interpretation Pearls
Selected References
Finsterer J: Mitochondrial metabolic stroke: phenotype and genetics of stroke-like episodes. J Neurol Sci. 400:135-41, 2019
Miyahara H et al: Autopsied case with MERRF/MELAS overlap syndrome accompanied by stroke-like episodes localized to the precentral gyrus. Neuropathology. 39(3)-212-17, 2019
Li Y et al: Current insight into MELAS: clinical perspectives and multimodal MRI. J Magn Reson Imaging. 47(2):583-4, 2018
Finsterer J et al: Focal and generalized seizures may occur in mitochondrial encephalomyopathy, lactic acidosis, andstrokelike episodes (MELAS) patients. J Child Neurol. 30(11):1553-4, 2015
Minobe S et al: Vasodilatation of multiple cerebral arteries in early stage of stroke-like episode with MELAS. J Clin Neurosci. 22(2):407-8, 2015
Rodan LH et al: Cerebral hyperperfusion and decreased cerebrovascular reactivity correlate with neurologic disease severity in MELAS. Mitochondrion. 22:66-74, 2015
Corr A et al: MELAS, an important consideration in the adult population presenting with unusual and recurrent stroke-like episodes. BMJ Case Rep. 2014
Leng Y et al: The mitochondrial DNA 10197 G>A mutation causes MELAS/Leigh overlap syndrome presenting with acute auditory agnosia. Mitochondrial DNA. 26(2):208-12, 2014
Prasad M et al: MELAS: A multigenerational impact of the MTTL1 A3243G MELAS mutation. Can J Neurol Sci. 41(2):210-9, 2014
Sofou K et al: MRI of the brain in childhood-onset mitochondrial disorders with central nervous system involvement. Mitochondrion. 13(4):364-71, 2013
Chen C et al: A study of familial MELAS: evaluation of A3243G mutation, clinical phenotype, and magnetic resonance spectroscopy-monitored progression. Neurol India. 60(1):86-9, 2012
Goodfellow JA et al: Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes: an important cause of stroke in young people. Postgrad Med J. 88(1040):326-34, 2012
Rikimaru M et al: Taurine ameliorates impaired the mitochondrial function and prevents stroke-like episodes in patients with MELAS. Intern Med. 51(24):3351-7, 2012
Tsujikawa T et al: Crossed cerebellar hyperperfusion after MELAS attack followed up by whole brain continuous arterial spin labeling perfusion imaging. Acta Radiol. 53(2):220-2, 2012
Wang Z et al: MR evaluation of cerebral oxygen metabolism and blood flow in stroke-like episodes of MELAS. J Neurol Sci. 323(1-2):173-7, 2012
Kaufmann P et al: Natural history of MELAS associated with mitochondrial DNA m.3243A>G genotype. Neurology. 77(22):1965-71, 2011
Kim JH et al: Diffusion and perfusion characteristics of MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episode) in thirteen patients. Korean J Radiol. 2011 Jan-Feb;12(1):15-24. Epub 2011 Jan 3. Erratum in: Korean J Radiol. 12(2):268, 2011
Friedman SD et al: The use of neuroimaging in the diagnosis of mitochondrial disease. Dev Disabil Res Rev. 16(2):129-35, 2010
Abe K et al: Comparison of conventional and diffusion-weighted MRI and proton MR spectroscopy in patients with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like events. Neuroradiology. 46(2):113-7, 2004
Iizuka T et al: Slowly progressive spread of the stroke-like lesions in MELAS. Neurology. 61(9):1238-44, 2003
Sparaco M et al: MELAS: clinical phenotype and morphological brain abnormalities. Acta Neuropathol (Berl). 106(3):202-12, 2003
Wang XY et al: Serial diffusion-weighted imaging in a patient with MELAS and presumed cytotoxic oedema. Neuroradiology. 45(9):640-3, 2003
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