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Pediatrics
Diagnosis
Brain
Pathology-Based Diagnoses
Inherited Metabolic/Degenerative Disorders
Mitochondrial Disorders
Mitochondrial Encephalopathies
Mitochondrial Encephalopathies
Blaise V. Jones, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Pathology

        TERMINOLOGY

        • Abbreviations

          • Mitochondrial encephalopathies (MEs)

        • Synonyms

          • Mitochondrial encephalomyelopathies

        • Definitions

          • Genetically based disorders of mitochondrial function resulting in progressive or intermittent brain injury
            • Subacute necrotizing encephalomyelopathy or Leigh syndrome (LS)
            • Pantothenate kinase-associated neurodegeneration (PKAN)
            • Glutaric acidurias, type 1 (GA-1) & type 2 (GA-2)
            • MELAS (myopathy, encephalopathy, lactic acidosis, & stroke-like episodes)
            • Kearns-Sayre syndrome (KSS)
            • Menkes disease (trichopoliodystrophy)
            • Alpers disease
            • Friedreich ataxia
          • Characteristically due to deficiencies/defects of enzymes affecting respiratory (electron-transport) chain, Krebs cycle, &/or other components of energy production by mitochondria
          • Other entities can be included in this categorization; those listed here most commonly encountered in children

        IMAGING

        • General Features

          • CT Findings

            • MR Findings

              • Nuclear Medicine Findings

                • Imaging Recommendations

                  DIFFERENTIAL DIAGNOSIS

                    PATHOLOGY

                    • General Features

                      CLINICAL ISSUES

                      • Presentation

                        • Demographics

                          • Natural History & Prognosis

                            • Treatment

                              DIAGNOSTIC CHECKLIST

                              • Image Interpretation Pearls

                                Selected References

                                1. Bindu PS et al: Magnetic resonance imaging correlates of genetically characterized patients with mitochondrial disorders: a study from south India. Mitochondrion. 25:6-16, 2015
                                2. Bindu PS et al: Electro-clinical features and magnetic resonance imaging correlates in Menkes disease. Brain Dev. 35(5):398-405, 2013
                                3. Lebre AS et al: A common pattern of brain MRI imaging in mitochondrial diseases with complex I deficiency. J Med Genet. 48(1):16-23, 2011
                                4. Diogo L et al: Value of brain magnetic resonance imaging in mitochondrial respiratory chain disorders. Pediatr Neurol. 42(3):196-200, 2010
                                5. Friedman SD et al: The use of neuroimaging in the diagnosis of mitochondrial disease. Dev Disabil Res Rev. 16(2):129-35, 2010
                                6. Kumakura A et al: Diffusion-weighted imaging in preclinical Leigh syndrome. Pediatr Neurol. 41(4):309-11, 2009
                                7. Lee HF et al: Leigh syndrome: clinical and neuroimaging follow-up. Pediatr Neurol. 40(2):88-93, 2009
                                8. 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
                                9. Gago LC et al: Intraretinal hemorrhages and chronic subdural effusions: glutaric aciduria type 1 can be mistaken for shaken baby syndrome. Retina. 23(5):724-6, 2003
                                10. Rossi A et al: Leigh Syndrome with COX deficiency and SURF1 gene mutations: MR imaging findings. AJNR Am J Neuroradiol. 24(6):1188-91, 2003
                                11. Schon EA et al: Neuronal degeneration and mitochondrial dysfunction. J Clin Invest. 111:303-12, 2003
                                12. Twomey EL et al: Neuroimaging findings in glutaric aciduria type 1. Pediatr Radiol. 33(12):823-30, 2003
                                13. Flemming K et al: MR spectroscopic findings in a case of Alpers-Huttenlocher syndrome. AJNR Am J Neuroradiol. 23(8):1421-3, 2002
                                Related Anatomy
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                                Related Differential Diagnoses
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                                References
                                Tables

                                Tables

                                KEY FACTS

                                • Terminology

                                  • Imaging

                                    • Pathology

                                      TERMINOLOGY

                                      • Abbreviations

                                        • Mitochondrial encephalopathies (MEs)

                                      • Synonyms

                                        • Mitochondrial encephalomyelopathies

                                      • Definitions

                                        • Genetically based disorders of mitochondrial function resulting in progressive or intermittent brain injury
                                          • Subacute necrotizing encephalomyelopathy or Leigh syndrome (LS)
                                          • Pantothenate kinase-associated neurodegeneration (PKAN)
                                          • Glutaric acidurias, type 1 (GA-1) & type 2 (GA-2)
                                          • MELAS (myopathy, encephalopathy, lactic acidosis, & stroke-like episodes)
                                          • Kearns-Sayre syndrome (KSS)
                                          • Menkes disease (trichopoliodystrophy)
                                          • Alpers disease
                                          • Friedreich ataxia
                                        • Characteristically due to deficiencies/defects of enzymes affecting respiratory (electron-transport) chain, Krebs cycle, &/or other components of energy production by mitochondria
                                        • Other entities can be included in this categorization; those listed here most commonly encountered in children

                                      IMAGING

                                      • General Features

                                        • CT Findings

                                          • MR Findings

                                            • Nuclear Medicine Findings

                                              • Imaging Recommendations

                                                DIFFERENTIAL DIAGNOSIS

                                                  PATHOLOGY

                                                  • General Features

                                                    CLINICAL ISSUES

                                                    • Presentation

                                                      • Demographics

                                                        • Natural History & Prognosis

                                                          • Treatment

                                                            DIAGNOSTIC CHECKLIST

                                                            • Image Interpretation Pearls

                                                              Selected References

                                                              1. Bindu PS et al: Magnetic resonance imaging correlates of genetically characterized patients with mitochondrial disorders: a study from south India. Mitochondrion. 25:6-16, 2015
                                                              2. Bindu PS et al: Electro-clinical features and magnetic resonance imaging correlates in Menkes disease. Brain Dev. 35(5):398-405, 2013
                                                              3. Lebre AS et al: A common pattern of brain MRI imaging in mitochondrial diseases with complex I deficiency. J Med Genet. 48(1):16-23, 2011
                                                              4. Diogo L et al: Value of brain magnetic resonance imaging in mitochondrial respiratory chain disorders. Pediatr Neurol. 42(3):196-200, 2010
                                                              5. Friedman SD et al: The use of neuroimaging in the diagnosis of mitochondrial disease. Dev Disabil Res Rev. 16(2):129-35, 2010
                                                              6. Kumakura A et al: Diffusion-weighted imaging in preclinical Leigh syndrome. Pediatr Neurol. 41(4):309-11, 2009
                                                              7. Lee HF et al: Leigh syndrome: clinical and neuroimaging follow-up. Pediatr Neurol. 40(2):88-93, 2009
                                                              8. 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
                                                              9. Gago LC et al: Intraretinal hemorrhages and chronic subdural effusions: glutaric aciduria type 1 can be mistaken for shaken baby syndrome. Retina. 23(5):724-6, 2003
                                                              10. Rossi A et al: Leigh Syndrome with COX deficiency and SURF1 gene mutations: MR imaging findings. AJNR Am J Neuroradiol. 24(6):1188-91, 2003
                                                              11. Schon EA et al: Neuronal degeneration and mitochondrial dysfunction. J Clin Invest. 111:303-12, 2003
                                                              12. Twomey EL et al: Neuroimaging findings in glutaric aciduria type 1. Pediatr Radiol. 33(12):823-30, 2003
                                                              13. Flemming K et al: MR spectroscopic findings in a case of Alpers-Huttenlocher syndrome. AJNR Am J Neuroradiol. 23(8):1421-3, 2002