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Leukodystrophies
Blaise V. Jones, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Pathology

        • Clinical Issues

          TERMINOLOGY

          • Definitions

            • Inherited disorders resulting in abnormal production or maintenance of myelin
              • X-linked adrenoleukodystrophy (ALD)
              • Metachromatic leukodystrophy (MLD)
              • Krabbe disease/globoid cell leukodystrophy (GLD)
              • Alexander disease
              • Canavan disease
              • Megalencephalic leukoencephalopathy with subcortical cysts (MLC)
                • Vacuolating MLC with subcortical cysts, Van der Knaap disease
              • Vanishing white matter (VWM) disease
                • Also known as childhood ataxia with cerebral hypomyelination (CACH)
            • Effects on white matter (WM) can be put into 3 categories
              • Dysmyelination: Formation of abnormal myelin
                • Typically results in demyelination
              • Demyelination: Destruction of myelin
              • Hypomyelination: Failure to form myelin
            • Caused by inherited enzyme deficiencies
              • Lysosomal or peroxisomal enzymes
            • Also caused by mutations in genes for WM structural proteins

          IMAGING

          • General Features

            • CT Findings

              • MR Findings

                • Imaging Recommendations

                  DIFFERENTIAL DIAGNOSIS

                    PATHOLOGY

                    • General Features

                      • Staging, Grading, & Classification

                        CLINICAL ISSUES

                        • Presentation

                          • Demographics

                            • Natural History & Prognosis

                              • Treatment

                                DIAGNOSTIC CHECKLIST

                                • Image Interpretation Pearls

                                  Selected References

                                  1. Vanderver A et al: Leukodystrophy overview, 2014
                                  2. van der Knaap MS et al: Megalencephalic leukoencephalopathy with subcortical cysts: chronic white matter oedema due to a defect in brain ion and water homoeostasis. 11(11):973-85, 2012
                                  3. Bugiani M et al: Defective glial maturation in vanishing white matter disease. J Neuropathol Exp Neurol. 70(1):69-82, 2011
                                  4. Bonkowsky JL et al: The burden of inherited leukodystrophies in children. Neurology. 75(8):718-25, 2010
                                  5. i Dali C et al: Brain N-acetylaspartate levels correlate with motor function in metachromatic leukodystrophy. Neurology. 75(21):1896-903, 2010
                                  6. van der Knaap MS et al: Megalencephalic leukoencephalopathy with cysts without MLC1 defect. Ann Neurol. 67(6):834-7, 2010
                                  7. Duffner PK et al: The long-term outcomes of presymptomatic infants transplanted for Krabbe disease: report of the workshop held on July 11 and 12, 2008, Holiday Valley, New York. Genet Med. 11(6):450-4, 2009
                                  8. Wu Y et al: Identification of novel EIF2B mutations in Chinese patients with vanishing white matter disease. J Hum Genet. 54(2):74-7, 2009
                                  9. Gorospe JR et al: Alexander disease and megalencephalic leukoencephalopathy with subcortical cysts: leukodystrophies arising from astrocyte dysfunction. Ment Retard Dev Disabil Res Rev. 12(2):113-22, 2006
                                  10. Brockmann K et al: Cerebral proton magnetic resonance spectroscopy in infantile Alexander disease. J Neurol. 250(3):300-6, 2003
                                  11. Brockmann K et al: Proton MRS profile of cerebral metabolic abnormalities in Krabbe disease. Neurology. 60(5):819-25, 2003
                                  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

                                            • Inherited disorders resulting in abnormal production or maintenance of myelin
                                              • X-linked adrenoleukodystrophy (ALD)
                                              • Metachromatic leukodystrophy (MLD)
                                              • Krabbe disease/globoid cell leukodystrophy (GLD)
                                              • Alexander disease
                                              • Canavan disease
                                              • Megalencephalic leukoencephalopathy with subcortical cysts (MLC)
                                                • Vacuolating MLC with subcortical cysts, Van der Knaap disease
                                              • Vanishing white matter (VWM) disease
                                                • Also known as childhood ataxia with cerebral hypomyelination (CACH)
                                            • Effects on white matter (WM) can be put into 3 categories
                                              • Dysmyelination: Formation of abnormal myelin
                                                • Typically results in demyelination
                                              • Demyelination: Destruction of myelin
                                              • Hypomyelination: Failure to form myelin
                                            • Caused by inherited enzyme deficiencies
                                              • Lysosomal or peroxisomal enzymes
                                            • Also caused by mutations in genes for WM structural proteins

                                          IMAGING

                                          • General Features

                                            • CT Findings

                                              • MR Findings

                                                • Imaging Recommendations

                                                  DIFFERENTIAL DIAGNOSIS

                                                    PATHOLOGY

                                                    • General Features

                                                      • Staging, Grading, & Classification

                                                        CLINICAL ISSUES

                                                        • Presentation

                                                          • Demographics

                                                            • Natural History & Prognosis

                                                              • Treatment

                                                                DIAGNOSTIC CHECKLIST

                                                                • Image Interpretation Pearls

                                                                  Selected References

                                                                  1. Vanderver A et al: Leukodystrophy overview, 2014
                                                                  2. van der Knaap MS et al: Megalencephalic leukoencephalopathy with subcortical cysts: chronic white matter oedema due to a defect in brain ion and water homoeostasis. 11(11):973-85, 2012
                                                                  3. Bugiani M et al: Defective glial maturation in vanishing white matter disease. J Neuropathol Exp Neurol. 70(1):69-82, 2011
                                                                  4. Bonkowsky JL et al: The burden of inherited leukodystrophies in children. Neurology. 75(8):718-25, 2010
                                                                  5. i Dali C et al: Brain N-acetylaspartate levels correlate with motor function in metachromatic leukodystrophy. Neurology. 75(21):1896-903, 2010
                                                                  6. van der Knaap MS et al: Megalencephalic leukoencephalopathy with cysts without MLC1 defect. Ann Neurol. 67(6):834-7, 2010
                                                                  7. Duffner PK et al: The long-term outcomes of presymptomatic infants transplanted for Krabbe disease: report of the workshop held on July 11 and 12, 2008, Holiday Valley, New York. Genet Med. 11(6):450-4, 2009
                                                                  8. Wu Y et al: Identification of novel EIF2B mutations in Chinese patients with vanishing white matter disease. J Hum Genet. 54(2):74-7, 2009
                                                                  9. Gorospe JR et al: Alexander disease and megalencephalic leukoencephalopathy with subcortical cysts: leukodystrophies arising from astrocyte dysfunction. Ment Retard Dev Disabil Res Rev. 12(2):113-22, 2006
                                                                  10. Brockmann K et al: Cerebral proton magnetic resonance spectroscopy in infantile Alexander disease. J Neurol. 250(3):300-6, 2003
                                                                  11. Brockmann K et al: Proton MRS profile of cerebral metabolic abnormalities in Krabbe disease. Neurology. 60(5):819-25, 2003