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Kearns-Sayre Syndrome
Susan I. Blaser, MD, FRCPC
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KEY FACTS

  • Terminology

    • Imaging

      • Pathology

        • Clinical Issues

          TERMINOLOGY

          • Definitions

            • Clinical phenotypes associated with single large-scale mtDNA deletions (SLSMDs)
              • Progressive external ophthalmoplegia (PEO)
              • Kearns-Sayre syndrome (KSS)
              • Pearson syndrome
                • Multisystem disorder characterized by bone marrow failure, pancreatic insufficiency
                • Children who survive develop KSS later in life
            • Overlapping spectrum of disease
              • Multisystem disease with anemia, renal impairment, endocrine disturbance most frequent extraneurological features

          IMAGING

          • General Features

            • CT Findings

              • MR Findings

                DIFFERENTIAL DIAGNOSIS

                  PATHOLOGY

                  • General Features

                    • Gross Pathologic & Surgical Features

                      CLINICAL ISSUES

                      • Presentation

                        • Natural History & Prognosis

                          • Treatment

                            DIAGNOSTIC CHECKLIST

                            • Image Interpretation Pearls

                              Selected References

                              1. Crippa BL et al: Biochemical abnormalities in Pearson syndrome. Am J Med Genet A. 167A(3):621-8, 2015
                              2. Mancuso M et al: Redefining phenotypes associated with mitochondrial DNA single deletion. J Neurol. ePub, 2015
                              3. Broomfield A et al: Paediatric single mitochondrial DNA deletion disorders: an overlapping spectrum of disease. J Inherit Metab Dis. ePub, 2014
                              4. Khambatta S et al: Kearns-Sayre syndrome: a case series of 35 adults and children. Int J Gen Med. 7:325-32, 2014
                              5. Duning T et al: Diffusion tensor imaging in a case of Kearns-Sayre syndrome: striking brainstem involvement as a possible cause of oculomotor symptoms. J Neurol Sci. 281(1-2):110-2, 2009
                              6. Wabbels B et al: [Chronic progressive external ophthalmoplegia and Kearns-Sayre syndrome : interdisciplinary diagnosis and therapy.] Ophthalmologe. 105(6):550-6, 2008
                              7. Yamashita S et al: Genotype and phenotype analyses in 136 patients with single large-scale mitochondrial DNA deletions. J Hum Genet. 53(7):598-606, 2008
                              8. Heidenreich JO et al: Chronic progressive external ophthalmoplegia: MR spectroscopy and MR diffusion studies in the brain. AJR Am J Roentgenol. 187(3):820-4, 2006
                              9. Hourani RG et al: Atypical MRI findings in Kearns-Sayre syndrome: T2 radial stripes. Neuropediatrics. 37(2):110-3, 2006
                              Related Anatomy
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                              Related Differential Diagnoses
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                              References
                              Tables

                              Tables

                              KEY FACTS

                              • Terminology

                                • Imaging

                                  • Pathology

                                    • Clinical Issues

                                      TERMINOLOGY

                                      • Definitions

                                        • Clinical phenotypes associated with single large-scale mtDNA deletions (SLSMDs)
                                          • Progressive external ophthalmoplegia (PEO)
                                          • Kearns-Sayre syndrome (KSS)
                                          • Pearson syndrome
                                            • Multisystem disorder characterized by bone marrow failure, pancreatic insufficiency
                                            • Children who survive develop KSS later in life
                                        • Overlapping spectrum of disease
                                          • Multisystem disease with anemia, renal impairment, endocrine disturbance most frequent extraneurological features

                                      IMAGING

                                      • General Features

                                        • CT Findings

                                          • MR Findings

                                            DIFFERENTIAL DIAGNOSIS

                                              PATHOLOGY

                                              • General Features

                                                • Gross Pathologic & Surgical Features

                                                  CLINICAL ISSUES

                                                  • Presentation

                                                    • Natural History & Prognosis

                                                      • Treatment

                                                        DIAGNOSTIC CHECKLIST

                                                        • Image Interpretation Pearls

                                                          Selected References

                                                          1. Crippa BL et al: Biochemical abnormalities in Pearson syndrome. Am J Med Genet A. 167A(3):621-8, 2015
                                                          2. Mancuso M et al: Redefining phenotypes associated with mitochondrial DNA single deletion. J Neurol. ePub, 2015
                                                          3. Broomfield A et al: Paediatric single mitochondrial DNA deletion disorders: an overlapping spectrum of disease. J Inherit Metab Dis. ePub, 2014
                                                          4. Khambatta S et al: Kearns-Sayre syndrome: a case series of 35 adults and children. Int J Gen Med. 7:325-32, 2014
                                                          5. Duning T et al: Diffusion tensor imaging in a case of Kearns-Sayre syndrome: striking brainstem involvement as a possible cause of oculomotor symptoms. J Neurol Sci. 281(1-2):110-2, 2009
                                                          6. Wabbels B et al: [Chronic progressive external ophthalmoplegia and Kearns-Sayre syndrome : interdisciplinary diagnosis and therapy.] Ophthalmologe. 105(6):550-6, 2008
                                                          7. Yamashita S et al: Genotype and phenotype analyses in 136 patients with single large-scale mitochondrial DNA deletions. J Hum Genet. 53(7):598-606, 2008
                                                          8. Heidenreich JO et al: Chronic progressive external ophthalmoplegia: MR spectroscopy and MR diffusion studies in the brain. AJR Am J Roentgenol. 187(3):820-4, 2006
                                                          9. Hourani RG et al: Atypical MRI findings in Kearns-Sayre syndrome: T2 radial stripes. Neuropediatrics. 37(2):110-3, 2006