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Hypomyelination
Blaise V. Jones, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          • Diagnostic Checklist

            TERMINOLOGY

            • Synonyms

              • Delayed myelin maturation, undermyelination
            • Definitions

              • Diminished or absent degree of white matter (WM) myelination for age
              • Myelin "milestones" not achieved
              • May be primary hypomyelination syndrome or secondary to other pathology

            IMAGING

            • General Features

              • CT Findings

                • MR Findings

                  • Imaging Recommendations

                    DIFFERENTIAL DIAGNOSIS

                      PATHOLOGY

                      • General Features

                        • Microscopic Features

                          CLINICAL ISSUES

                          • Presentation

                            • Demographics

                              • Natural History & Prognosis

                                • Treatment

                                  DIAGNOSTIC CHECKLIST

                                  • Consider

                                    • Image Interpretation Pearls

                                      • Reporting Tips

                                        Selected References

                                        1. Andronikou S et al: Corpus callosum thickness in children: an MR pattern-recognition approach on the midsagittal image. Pediatr Radiol. 45(2):258-72, 2015
                                        2. Mayer JA et al: Modeling the natural history of Pelizaeus-Merzbacher disease. Neurobiol Dis. 75:115-30, 2015
                                        3. Takanashi JI: Neurochemistry of Hypomyelination Investigated with MR Spectroscopy. Magn Reson Med Sci. ePub, 2015
                                        4. Numata Y et al: Epidemiological, clinical, and genetic landscapes of hypomyelinating leukodystrophies. J Neurol. 261(4):752-8, 2014
                                        5. Pizzino A et al: TUBB4A de novo mutations cause isolated hypomyelination. Neurology. 83(10):898-902, 2014
                                        6. Pouwels PJ et al: Hypomyelinating leukodystrophies: translational research progress and prospects. Ann Neurol. 76(1):5-19, 2014
                                        7. Steenweg ME et al: Novel hypomyelinating leukoencephalopathy affecting early myelinating structures. Arch Neurol. 69(1):125-8, 2012
                                        8. Steenweg ME et al: Magnetic resonance imaging pattern recognition in hypomyelinating disorders. Brain. 133(10):2971-82, 2010
                                        9. Schiffmann R et al: Invited article: an MRI-based approach to the diagnosis of white matter disorders. Neurology. 72(8):750-9, 2009
                                        10. Rossi A et al: Hypomyelination and congenital cataract: neuroimaging features of a novel inherited white matter disorder. AJNR Am J Neuroradiol. 29(2):301-5, 2008
                                        11. Barkovich AJ: Myelin mishaps. Ann Neurol. 62(2):107-9, 2007
                                        12. van der Knaap MS et al: Hypomyelination with atrophy of the basal ganglia and cerebellum: follow-up and pathology. Neurology. 69(2):166-71, 2007
                                        13. van der Voorn JP et al: Childhood white matter disorders: quantitative MR imaging and spectroscopy. Radiology. 241(2):510-7, 2006
                                        14. Barkovich AJ: Magnetic resonance techniques in the assessment of myelin and myelination. J Inherit Metab Dis. 28(3):311-43, 2005
                                        15. Battini R et al: Unusual clinical and magnetic resonance imaging findings in a family with proteolipid protein gene mutation. Arch Neurol. 60(2):268-72, 2003
                                        16. Hudson LD: Pelizaeus-Merzbacher disease and spastic paraplegia type 2: two faces of myelin loss from mutations in the same gene. J Child Neurol. 18(9):616-24, 2003
                                        17. Linnankivi TT et al: 18q-syndrome: brain MRI shows poor differentiation of gray and white matter on T2-weighted images. J Magn Reson Imaging. 18(4):414-9, 2003
                                        18. Pizzini F et al: Proton MR spectroscopic imaging in Pelizaeus-Merzbacher disease. AJNR Am J Neuroradiol. 24(8):1683-9, 2003
                                        19. Plecko B et al: Degree of hypomyelination and magnetic resonance spectroscopy findings in patients with Pelizaeus Merzbacher phenotype. Neuropediatrics. 34(3):127-36, 2003
                                        20. Engelbrecht V et al: Diffusion-weighted MR imaging in the brain in children: findings in the normal brain and in the brain with white matter diseases. Radiology. 222(2):410-8, 2002
                                        21. Hobson GM et al: A PLP splicing abnormality is associated with an unusual presentation of PMD. Ann Neurol. 52(4):477-88, 2002
                                        22. Koeppen AH et al: Pelizaeus-Merzbacher disease. J Neuropathol Exp Neurol. 61(9):747-59, 2002
                                        23. Southwood CM et al: The unfolded protein response modulates disease severity in Pelizaeus-Merzbacher disease. Neuron. 36(4):585-96, 2002
                                        24. Takanashi J et al: Brain N-acetylaspartate is elevated in Pelizaeus-Merzbacher disease with PLP1 duplication. Neurology. 58(2):237-41, 2002
                                        25. van der Knaap MS et al: New syndrome characterized by hypomyelination with atrophy of the basal ganglia and cerebellum. AJNR Am J Neuroradiol. 23(9):1466-74, 2002
                                        26. Cecil KM et al: Magnetic resonance spectroscopy of the pediatric brain. Top Magn Reson Imaging. 12(6):435-52, 2001
                                        27. Woodward K et al: CNS myelination and PLP gene dosage. Pharmacogenomics. 2(3):263-72, 2001
                                        28. Barkovich AJ: Concepts of myelin and myelination in neuroradiology. AJNR Am J Neuroradiol. 21(6):1099-109, 2000
                                        Related Anatomy
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                                        Related Differential Diagnoses
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                                        References
                                        Tables

                                        Tables

                                        KEY FACTS

                                        • Terminology

                                          • Imaging

                                            • Top Differential Diagnoses

                                              • Pathology

                                                • Diagnostic Checklist

                                                  TERMINOLOGY

                                                  • Synonyms

                                                    • Delayed myelin maturation, undermyelination
                                                  • Definitions

                                                    • Diminished or absent degree of white matter (WM) myelination for age
                                                    • Myelin "milestones" not achieved
                                                    • May be primary hypomyelination syndrome or secondary to other pathology

                                                  IMAGING

                                                  • General Features

                                                    • CT Findings

                                                      • MR Findings

                                                        • Imaging Recommendations

                                                          DIFFERENTIAL DIAGNOSIS

                                                            PATHOLOGY

                                                            • General Features

                                                              • Microscopic Features

                                                                CLINICAL ISSUES

                                                                • Presentation

                                                                  • Demographics

                                                                    • Natural History & Prognosis

                                                                      • Treatment

                                                                        DIAGNOSTIC CHECKLIST

                                                                        • Consider

                                                                          • Image Interpretation Pearls

                                                                            • Reporting Tips

                                                                              Selected References

                                                                              1. Andronikou S et al: Corpus callosum thickness in children: an MR pattern-recognition approach on the midsagittal image. Pediatr Radiol. 45(2):258-72, 2015
                                                                              2. Mayer JA et al: Modeling the natural history of Pelizaeus-Merzbacher disease. Neurobiol Dis. 75:115-30, 2015
                                                                              3. Takanashi JI: Neurochemistry of Hypomyelination Investigated with MR Spectroscopy. Magn Reson Med Sci. ePub, 2015
                                                                              4. Numata Y et al: Epidemiological, clinical, and genetic landscapes of hypomyelinating leukodystrophies. J Neurol. 261(4):752-8, 2014
                                                                              5. Pizzino A et al: TUBB4A de novo mutations cause isolated hypomyelination. Neurology. 83(10):898-902, 2014
                                                                              6. Pouwels PJ et al: Hypomyelinating leukodystrophies: translational research progress and prospects. Ann Neurol. 76(1):5-19, 2014
                                                                              7. Steenweg ME et al: Novel hypomyelinating leukoencephalopathy affecting early myelinating structures. Arch Neurol. 69(1):125-8, 2012
                                                                              8. Steenweg ME et al: Magnetic resonance imaging pattern recognition in hypomyelinating disorders. Brain. 133(10):2971-82, 2010
                                                                              9. Schiffmann R et al: Invited article: an MRI-based approach to the diagnosis of white matter disorders. Neurology. 72(8):750-9, 2009
                                                                              10. Rossi A et al: Hypomyelination and congenital cataract: neuroimaging features of a novel inherited white matter disorder. AJNR Am J Neuroradiol. 29(2):301-5, 2008
                                                                              11. Barkovich AJ: Myelin mishaps. Ann Neurol. 62(2):107-9, 2007
                                                                              12. van der Knaap MS et al: Hypomyelination with atrophy of the basal ganglia and cerebellum: follow-up and pathology. Neurology. 69(2):166-71, 2007
                                                                              13. van der Voorn JP et al: Childhood white matter disorders: quantitative MR imaging and spectroscopy. Radiology. 241(2):510-7, 2006
                                                                              14. Barkovich AJ: Magnetic resonance techniques in the assessment of myelin and myelination. J Inherit Metab Dis. 28(3):311-43, 2005
                                                                              15. Battini R et al: Unusual clinical and magnetic resonance imaging findings in a family with proteolipid protein gene mutation. Arch Neurol. 60(2):268-72, 2003
                                                                              16. Hudson LD: Pelizaeus-Merzbacher disease and spastic paraplegia type 2: two faces of myelin loss from mutations in the same gene. J Child Neurol. 18(9):616-24, 2003
                                                                              17. Linnankivi TT et al: 18q-syndrome: brain MRI shows poor differentiation of gray and white matter on T2-weighted images. J Magn Reson Imaging. 18(4):414-9, 2003
                                                                              18. Pizzini F et al: Proton MR spectroscopic imaging in Pelizaeus-Merzbacher disease. AJNR Am J Neuroradiol. 24(8):1683-9, 2003
                                                                              19. Plecko B et al: Degree of hypomyelination and magnetic resonance spectroscopy findings in patients with Pelizaeus Merzbacher phenotype. Neuropediatrics. 34(3):127-36, 2003
                                                                              20. Engelbrecht V et al: Diffusion-weighted MR imaging in the brain in children: findings in the normal brain and in the brain with white matter diseases. Radiology. 222(2):410-8, 2002
                                                                              21. Hobson GM et al: A PLP splicing abnormality is associated with an unusual presentation of PMD. Ann Neurol. 52(4):477-88, 2002
                                                                              22. Koeppen AH et al: Pelizaeus-Merzbacher disease. J Neuropathol Exp Neurol. 61(9):747-59, 2002
                                                                              23. Southwood CM et al: The unfolded protein response modulates disease severity in Pelizaeus-Merzbacher disease. Neuron. 36(4):585-96, 2002
                                                                              24. Takanashi J et al: Brain N-acetylaspartate is elevated in Pelizaeus-Merzbacher disease with PLP1 duplication. Neurology. 58(2):237-41, 2002
                                                                              25. van der Knaap MS et al: New syndrome characterized by hypomyelination with atrophy of the basal ganglia and cerebellum. AJNR Am J Neuroradiol. 23(9):1466-74, 2002
                                                                              26. Cecil KM et al: Magnetic resonance spectroscopy of the pediatric brain. Top Magn Reson Imaging. 12(6):435-52, 2001
                                                                              27. Woodward K et al: CNS myelination and PLP gene dosage. Pharmacogenomics. 2(3):263-72, 2001
                                                                              28. Barkovich AJ: Concepts of myelin and myelination in neuroradiology. AJNR Am J Neuroradiol. 21(6):1099-109, 2000