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Leigh Syndrome
A. James Barkovich, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          • Clinical Issues

            TERMINOLOGY

            • Abbreviations

              • Leigh syndrome (LS)
            • Synonyms

              • Subacute necrotizing encephalomyelopathy
            • Definitions

              • Genetically heterogeneous mitochondrial disorder characterized by progressive neurodegeneration

            IMAGING

            • General Features

              • CT Findings

                • MR Findings

                  • Ultrasonographic Findings

                    • Imaging Recommendations

                      DIFFERENTIAL DIAGNOSIS

                        PATHOLOGY

                        • General Features

                          • Gross Pathologic & Surgical Features

                            • Microscopic Features

                              CLINICAL ISSUES

                              • Presentation

                                • Demographics

                                  • Natural History & Prognosis

                                    • Treatment

                                      DIAGNOSTIC CHECKLIST

                                      • Image Interpretation Pearls

                                        Selected References

                                        1. Simon M et al: Mutations of human NARS2, encoding the mitochondrial asparaginyl-tRNA synthetase, cause nonsyndromic deafness and Leigh syndrome. PLoS Genet. 11(3):e1005097, 2015
                                        2. Baertling F et al: A guide to diagnosis and treatment of Leigh syndrome. J Neurol Neurosurg Psychiatry. 85(3):257-65, 2014
                                        3. Krishna SH et al: Congenital genetic inborn errors of metabolism presenting as an adult or persisting into adulthood: neuroimaging in the more common or recognizable disorders. Semin Ultrasound CT MR. 35(2):160-91, 2014
                                        4. Sonam K et al: Clinical and magnetic resonance imaging findings in patients with Leigh syndrome and SURF1 mutations. Brain Dev. 36(9):807-12, 2014
                                        5. Lee IC et al: SURF1-associated Leigh syndrome: a case series and novel mutations. Hum Mutat. 33(8):1192-200, 2012
                                        6. Cakmakci H et al: Diagnostic value of proton MR spectroscopy and diffusion-weighted MR imaging in childhood inherited neurometabolic brain diseases and review of the literature. Eur J Radiol. 74(3):e161-71, 2010
                                        7. Friedman SD et al: The use of neuroimaging in the diagnosis of mitochondrial disease. Dev Disabil Res Rev. 16(2):129-35, 2010
                                        8. Lee HF et al: Leigh syndrome: clinical and neuroimaging follow-up. Pediatr Neurol. 40(2):88-93, 2009
                                        9. Finsterer J: Leigh and Leigh-like syndrome in children and adults. Pediatr Neurol. 39(4):223-35, 2008
                                        10. Okumura A et al: Subacute encephalopathy: clinical features, laboratory data, neuroimaging, and outcomes. Pediatr Neurol. 38(2):111-7, 2008
                                        11. Saneto RP et al: Neuroimaging of mitochondrial disease. Mitochondrion. 8(5-6):396-413, 2008
                                        12. Horváth R et al: Leigh syndrome caused by mutations in the flavoprotein (Fp) subunit of succinate dehydrogenase (SDHA). J Neurol Neurosurg Psychiatry. 77(1):74-6, 2006
                                        13. Benit P et al: Mutant NDUFS3 subunit of mitochondrial complex I causes Leigh syndrome. J Med Genet. 41(1):14-7, 2004
                                        14. 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
                                        Related Anatomy
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                                        Related Differential Diagnoses
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                                        References
                                        Tables

                                        Tables

                                        KEY FACTS

                                        • Terminology

                                          • Imaging

                                            • Top Differential Diagnoses

                                              • Pathology

                                                • Clinical Issues

                                                  TERMINOLOGY

                                                  • Abbreviations

                                                    • Leigh syndrome (LS)
                                                  • Synonyms

                                                    • Subacute necrotizing encephalomyelopathy
                                                  • Definitions

                                                    • Genetically heterogeneous mitochondrial disorder characterized by progressive neurodegeneration

                                                  IMAGING

                                                  • General Features

                                                    • CT Findings

                                                      • MR Findings

                                                        • Ultrasonographic Findings

                                                          • Imaging Recommendations

                                                            DIFFERENTIAL DIAGNOSIS

                                                              PATHOLOGY

                                                              • General Features

                                                                • Gross Pathologic & Surgical Features

                                                                  • Microscopic Features

                                                                    CLINICAL ISSUES

                                                                    • Presentation

                                                                      • Demographics

                                                                        • Natural History & Prognosis

                                                                          • Treatment

                                                                            DIAGNOSTIC CHECKLIST

                                                                            • Image Interpretation Pearls

                                                                              Selected References

                                                                              1. Simon M et al: Mutations of human NARS2, encoding the mitochondrial asparaginyl-tRNA synthetase, cause nonsyndromic deafness and Leigh syndrome. PLoS Genet. 11(3):e1005097, 2015
                                                                              2. Baertling F et al: A guide to diagnosis and treatment of Leigh syndrome. J Neurol Neurosurg Psychiatry. 85(3):257-65, 2014
                                                                              3. Krishna SH et al: Congenital genetic inborn errors of metabolism presenting as an adult or persisting into adulthood: neuroimaging in the more common or recognizable disorders. Semin Ultrasound CT MR. 35(2):160-91, 2014
                                                                              4. Sonam K et al: Clinical and magnetic resonance imaging findings in patients with Leigh syndrome and SURF1 mutations. Brain Dev. 36(9):807-12, 2014
                                                                              5. Lee IC et al: SURF1-associated Leigh syndrome: a case series and novel mutations. Hum Mutat. 33(8):1192-200, 2012
                                                                              6. Cakmakci H et al: Diagnostic value of proton MR spectroscopy and diffusion-weighted MR imaging in childhood inherited neurometabolic brain diseases and review of the literature. Eur J Radiol. 74(3):e161-71, 2010
                                                                              7. Friedman SD et al: The use of neuroimaging in the diagnosis of mitochondrial disease. Dev Disabil Res Rev. 16(2):129-35, 2010
                                                                              8. Lee HF et al: Leigh syndrome: clinical and neuroimaging follow-up. Pediatr Neurol. 40(2):88-93, 2009
                                                                              9. Finsterer J: Leigh and Leigh-like syndrome in children and adults. Pediatr Neurol. 39(4):223-35, 2008
                                                                              10. Okumura A et al: Subacute encephalopathy: clinical features, laboratory data, neuroimaging, and outcomes. Pediatr Neurol. 38(2):111-7, 2008
                                                                              11. Saneto RP et al: Neuroimaging of mitochondrial disease. Mitochondrion. 8(5-6):396-413, 2008
                                                                              12. Horváth R et al: Leigh syndrome caused by mutations in the flavoprotein (Fp) subunit of succinate dehydrogenase (SDHA). J Neurol Neurosurg Psychiatry. 77(1):74-6, 2006
                                                                              13. Benit P et al: Mutant NDUFS3 subunit of mitochondrial complex I causes Leigh syndrome. J Med Genet. 41(1):14-7, 2004
                                                                              14. 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