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MELAS
Susan I. Blaser, MD, FRCPC
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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

                                              1. Finsterer J et al: Focal and Generalized Seizures May Occur in Mitochondrial Encephalomyopathy, Lactic Acidosis, and Strokelike Episodes (MELAS) Patients. J Child Neurol. ePub, 2015
                                              2. 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
                                              3. Rodan LH et al: Cerebral hyperperfusion and decreased cerebrovascular reactivity correlate with neurologic disease severity in MELAS. Mitochondrion. 22:66-74, 2015
                                              4. Corr A et al: MELAS, an important consideration in the adult population presenting with unusual and recurrent stroke-like episodes. BMJ Case Rep. 2014, 2014
                                              5. Leng Y et al: The mitochondrial DNA 10197 G > A mutation causes MELAS/Leigh overlap syndrome presenting with acute auditory agnosia. Mitochondrial DNA. Epub ahead of print, 2014
                                              6. Prasad M et al: MELAS: A Multigenerational Impact of the MTTL1 A3243G MELAS Mutation. Can J Neurol Sci. 41(2):210-9, 2014
                                              7. Sofou K et al: MRI of the brain in childhood-onset mitochondrial disorders with central nervous system involvement. Mitochondrion. 13(4):364-71, 2013
                                              8. 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
                                              9. 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
                                              10. 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
                                              11. 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
                                              12. 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
                                              13. Kaufmann P et al: Natural history of MELAS associated with mitochondrial DNA m.3243A>G genotype. Neurology. 77(22):1965-71, 2011
                                              14. 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
                                              15. Friedman SD et al: The use of neuroimaging in the diagnosis of mitochondrial disease. Dev Disabil Res Rev. 16(2):129-35, 2010
                                              16. 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
                                              17. Iizuka T et al: Slowly progressive spread of the stroke-like lesions in MELAS. Neurology. 61(9):1238-44, 2003
                                              18. Sparaco M et al: MELAS: clinical phenotype and morphological brain abnormalities. Acta Neuropathol (Berl). 106(3):202-12, 2003
                                              19. Wang XY et al: Serial diffusion-weighted imaging in a patient with MELAS and presumed cytotoxic oedema. Neuroradiology. 45(9):640-3, 2003
                                              Related Anatomy
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                                              Related Differential Diagnoses
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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

                                                                                          1. Finsterer J et al: Focal and Generalized Seizures May Occur in Mitochondrial Encephalomyopathy, Lactic Acidosis, and Strokelike Episodes (MELAS) Patients. J Child Neurol. ePub, 2015
                                                                                          2. 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
                                                                                          3. Rodan LH et al: Cerebral hyperperfusion and decreased cerebrovascular reactivity correlate with neurologic disease severity in MELAS. Mitochondrion. 22:66-74, 2015
                                                                                          4. Corr A et al: MELAS, an important consideration in the adult population presenting with unusual and recurrent stroke-like episodes. BMJ Case Rep. 2014, 2014
                                                                                          5. Leng Y et al: The mitochondrial DNA 10197 G > A mutation causes MELAS/Leigh overlap syndrome presenting with acute auditory agnosia. Mitochondrial DNA. Epub ahead of print, 2014
                                                                                          6. Prasad M et al: MELAS: A Multigenerational Impact of the MTTL1 A3243G MELAS Mutation. Can J Neurol Sci. 41(2):210-9, 2014
                                                                                          7. Sofou K et al: MRI of the brain in childhood-onset mitochondrial disorders with central nervous system involvement. Mitochondrion. 13(4):364-71, 2013
                                                                                          8. 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
                                                                                          9. 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
                                                                                          10. 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
                                                                                          11. 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
                                                                                          12. 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
                                                                                          13. Kaufmann P et al: Natural history of MELAS associated with mitochondrial DNA m.3243A>G genotype. Neurology. 77(22):1965-71, 2011
                                                                                          14. 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
                                                                                          15. Friedman SD et al: The use of neuroimaging in the diagnosis of mitochondrial disease. Dev Disabil Res Rev. 16(2):129-35, 2010
                                                                                          16. 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
                                                                                          17. Iizuka T et al: Slowly progressive spread of the stroke-like lesions in MELAS. Neurology. 61(9):1238-44, 2003
                                                                                          18. Sparaco M et al: MELAS: clinical phenotype and morphological brain abnormalities. Acta Neuropathol (Berl). 106(3):202-12, 2003
                                                                                          19. Wang XY et al: Serial diffusion-weighted imaging in a patient with MELAS and presumed cytotoxic oedema. Neuroradiology. 45(9):640-3, 2003