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Vanishing White Matter
Kevin R. Moore, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          • Clinical Issues

            • Diagnostic Checklist

              TERMINOLOGY

              • Abbreviations

                • Vanishing white matter (VWM), vanishing white matter disease (VWMD), childhood ataxia with central nervous system hypomyelination (CACH)
              • Synonyms

                • Myelinopathia centralis diffusa, leukoencephalopathy with vanishing WM, Cree leukoencephalopathy
              • Definitions

                • Chronic, progressive white matter (WM) disorder featuring central WM loss + ataxia, spasticity

              IMAGING

              • General Features

                • CT Findings

                  • MR Findings

                    • Imaging Recommendations

                      DIFFERENTIAL DIAGNOSIS

                        PATHOLOGY

                        • General Features

                          • Staging, Grading, & Classification

                            • Gross Pathologic & Surgical Features

                              • Microscopic Features

                                • Laboratory Testing

                                  CLINICAL ISSUES

                                  • Presentation

                                    • Demographics

                                      • Natural History & Prognosis

                                        • Treatment

                                          DIAGNOSTIC CHECKLIST

                                          • Consider

                                            • Image Interpretation Pearls

                                              Selected References

                                              1. Bektaş G et al: Vanishing white matter disease with a novel EIF2B5 mutation: A 10-year follow-up. Clin Neurol Neurosurg. 171:190-193, 2018
                                              2. Bugiani M et al: Vanishing white matter: a leukodystrophy due to astrocytic dysfunction. Brain Pathol. 28(3):408-21, 2018
                                              3. Eluvathingal Muttikkal TJ et al: Enhancement of multiple cranial and spinal nerves in vanishing white matter: expanding the differential diagnosis. Pediatr Radiol. 48(3):437-42, 2018
                                              4. van der Knaap MS et al: Vanishing white matter disease. Lancet Neurol. 5(5):413-23, 2006
                                              5. Hamilton EMC et al: Natural history of vanishing white matter. Ann Neurol. 84(2):274-88, 2018
                                              6. Ayrignac X et al: Brain magnetic resonance imaging helps to differentiate atypical multiple sclerosis with cavitary lesions and vanishing white matter disease. Eur J Neurol. 23(6):995-1000, 2016
                                              7. Zhou L et al: Similarities and differences between infantile and early childhood onset vanishing white matter disease. J Neurol. 265(6):1410-1418, 2018
                                              8. Dooves S et al: Astrocytes are central in the pathomechanisms of vanishing white matter. J Clin Invest. 126(4):1512-24, 2016
                                              9. Woody AL et al: Infantile onset Vanishing White Matter disease associated with a novel EIF2B5 variant, remarkably long life span, severe epilepsy, and hypopituitarism. Am J Med Genet A. 167A(4):826-30, 2015
                                              10. Ding XQ et al: Imaging evidence of early brain tissue degeneration in patients with vanishing white matter disease: a multimodal MR study. J Magn Reson Imaging. Epub ahead of print, 2011
                                              11. Mukerji SS et al: Teaching NeuroImages: Vanishing white matter ovarioleukodystrophy. Neurology. 86(24):e248, 2016
                                              12. van der Lei HD et al: Characteristics of early MRI in children and adolescents with vanishing white matter. Neuropediatrics. 43(1):22-6, 2012
                                              13. Meoded A et al: Leukoencephalopathy with vanishing white matter: serial MRI of the brain and spinal cord including diffusion tensor imaging. Neuropediatrics. 42(2):82-5, 2011
                                              14. Bugiani M et al: Leukoencephalopathy with vanishing white matter: a review. J Neuropathol Exp Neurol. 69(10):987-96, 2010
                                              15. van der Lei HD et al: Restricted diffusion in vanishing white matter. Arch Neurol. 69(6):723-7, 2012
                                              16. van der Lei HD et al: Genotype-phenotype correlation in vanishing white matter disease. Neurology. 75(17):1555-9, 2010
                                              17. Vermeulen G et al: Fright is a provoking factor in vanishing white matter disease. Ann Neurol. 57(4):560-3, 2005
                                              18. Schiffmann R et al: Childhood Ataxia with Central Nervous System Hypomyelination/Vanishing White Matter 1993
                                              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

                                                        • Diagnostic Checklist

                                                          TERMINOLOGY

                                                          • Abbreviations

                                                            • Vanishing white matter (VWM), vanishing white matter disease (VWMD), childhood ataxia with central nervous system hypomyelination (CACH)
                                                          • Synonyms

                                                            • Myelinopathia centralis diffusa, leukoencephalopathy with vanishing WM, Cree leukoencephalopathy
                                                          • Definitions

                                                            • Chronic, progressive white matter (WM) disorder featuring central WM loss + ataxia, spasticity

                                                          IMAGING

                                                          • General Features

                                                            • CT Findings

                                                              • MR Findings

                                                                • Imaging Recommendations

                                                                  DIFFERENTIAL DIAGNOSIS

                                                                    PATHOLOGY

                                                                    • General Features

                                                                      • Staging, Grading, & Classification

                                                                        • Gross Pathologic & Surgical Features

                                                                          • Microscopic Features

                                                                            • Laboratory Testing

                                                                              CLINICAL ISSUES

                                                                              • Presentation

                                                                                • Demographics

                                                                                  • Natural History & Prognosis

                                                                                    • Treatment

                                                                                      DIAGNOSTIC CHECKLIST

                                                                                      • Consider

                                                                                        • Image Interpretation Pearls

                                                                                          Selected References

                                                                                          1. Bektaş G et al: Vanishing white matter disease with a novel EIF2B5 mutation: A 10-year follow-up. Clin Neurol Neurosurg. 171:190-193, 2018
                                                                                          2. Bugiani M et al: Vanishing white matter: a leukodystrophy due to astrocytic dysfunction. Brain Pathol. 28(3):408-21, 2018
                                                                                          3. Eluvathingal Muttikkal TJ et al: Enhancement of multiple cranial and spinal nerves in vanishing white matter: expanding the differential diagnosis. Pediatr Radiol. 48(3):437-42, 2018
                                                                                          4. van der Knaap MS et al: Vanishing white matter disease. Lancet Neurol. 5(5):413-23, 2006
                                                                                          5. Hamilton EMC et al: Natural history of vanishing white matter. Ann Neurol. 84(2):274-88, 2018
                                                                                          6. Ayrignac X et al: Brain magnetic resonance imaging helps to differentiate atypical multiple sclerosis with cavitary lesions and vanishing white matter disease. Eur J Neurol. 23(6):995-1000, 2016
                                                                                          7. Zhou L et al: Similarities and differences between infantile and early childhood onset vanishing white matter disease. J Neurol. 265(6):1410-1418, 2018
                                                                                          8. Dooves S et al: Astrocytes are central in the pathomechanisms of vanishing white matter. J Clin Invest. 126(4):1512-24, 2016
                                                                                          9. Woody AL et al: Infantile onset Vanishing White Matter disease associated with a novel EIF2B5 variant, remarkably long life span, severe epilepsy, and hypopituitarism. Am J Med Genet A. 167A(4):826-30, 2015
                                                                                          10. Ding XQ et al: Imaging evidence of early brain tissue degeneration in patients with vanishing white matter disease: a multimodal MR study. J Magn Reson Imaging. Epub ahead of print, 2011
                                                                                          11. Mukerji SS et al: Teaching NeuroImages: Vanishing white matter ovarioleukodystrophy. Neurology. 86(24):e248, 2016
                                                                                          12. van der Lei HD et al: Characteristics of early MRI in children and adolescents with vanishing white matter. Neuropediatrics. 43(1):22-6, 2012
                                                                                          13. Meoded A et al: Leukoencephalopathy with vanishing white matter: serial MRI of the brain and spinal cord including diffusion tensor imaging. Neuropediatrics. 42(2):82-5, 2011
                                                                                          14. Bugiani M et al: Leukoencephalopathy with vanishing white matter: a review. J Neuropathol Exp Neurol. 69(10):987-96, 2010
                                                                                          15. van der Lei HD et al: Restricted diffusion in vanishing white matter. Arch Neurol. 69(6):723-7, 2012
                                                                                          16. van der Lei HD et al: Genotype-phenotype correlation in vanishing white matter disease. Neurology. 75(17):1555-9, 2010
                                                                                          17. Vermeulen G et al: Fright is a provoking factor in vanishing white matter disease. Ann Neurol. 57(4):560-3, 2005
                                                                                          18. Schiffmann R et al: Childhood Ataxia with Central Nervous System Hypomyelination/Vanishing White Matter 1993