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Pediatrics
Diagnosis
Brain
Pathology-Based Diagnoses
Inherited Metabolic/Degenerative Disorders
Normal Variants
Hypomyelination
Hypomyelination
Blaise V. Jones, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        TERMINOLOGY

        • Synonyms

          • Delayed myelin maturation, undermyelination

        • Definitions

          • Diminished or absent degree of white matter (WM) myelination expected for age
            • Myelin "milestones" not achieved
          • May be primary hypomyelination syndrome or secondary to other pathology
          • Distinct from demyelination
            • Demyelination = destruction of already present myelin
            • Dysmyelination = abnormal myelin development
              • May be indistinguishable from hypomyelination

        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. Pavlidou E et al: A novel PLP1 mutation associated with optic nerve enlargement in two siblings with Pelizaeus-Merzbacher disease: a new MRI finding. Brain Dev. 39(3):271-4, 2017
                                    2. Nahhas N et al: Pelizaeus-Merzbacher-like disease 1. GeneReviews. Seattle: University of Washington, 2017
                                    3. Nahhas N et al: TUBB4A-related leukodystrophy. GeneReviews. Seattle: University of Washington, 2016
                                    4. Mayer JA et al: Modeling the natural history of Pelizaeus-Merzbacher disease. Neurobiol Dis. 75:115-30, 2015
                                    5. Takanashi JI: Neurochemistry of Hypomyelination Investigated with MR Spectroscopy. Magn Reson Med Sci. ePub, 2015
                                    6. Numata Y et al: Epidemiological, clinical, and genetic landscapes of hypomyelinating leukodystrophies. J Neurol. 261(4):752-8, 2014
                                    7. Pizzino A et al: TUBB4A de novo mutations cause isolated hypomyelination. Neurology. 83(10):898-902, 2014
                                    8. Harreld JH et al: Trichothiodystrophy with dysmyelination and central osteosclerosis. AJNR Am J Neuroradiol. 31(1):129-30, 2010
                                    9. Pouwels PJ et al: Hypomyelinating leukodystrophies: translational research progress and prospects. Ann Neurol. 76(1):5-19, 2014
                                    10. Bernard G et al: POLR3-Related Leukodystrophy 2012
                                    11. Steenweg ME et al: Novel hypomyelinating leukoencephalopathy affecting early myelinating structures. Arch Neurol. 69(1):125-8, 2012
                                    12. Steenweg ME et al: Magnetic resonance imaging pattern recognition in hypomyelinating disorders. Brain. 133(10):2971-82, 2010
                                    13. Schiffmann R et al: Invited article: an MRI-based approach to the diagnosis of white matter disorders. Neurology. 72(8):750-9, 2009
                                    14. 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
                                    15. Barkovich AJ: Myelin mishaps. Ann Neurol. 62(2):107-9, 2007
                                    16. 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
                                    17. van der Voorn JP et al: Childhood white matter disorders: quantitative MR imaging and spectroscopy. Radiology. 241(2):510-7, 2006
                                    18. Barkovich AJ: Magnetic resonance techniques in the assessment of myelin and myelination. J Inherit Metab Dis. 28(3):311-43, 2005
                                    19. 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
                                    20. 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
                                    21. 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
                                    22. Pizzini F et al: Proton MR spectroscopic imaging in Pelizaeus-Merzbacher disease. AJNR Am J Neuroradiol. 24(8):1683-9, 2003
                                    23. Plecko B et al: Degree of hypomyelination and magnetic resonance spectroscopy findings in patients with Pelizaeus Merzbacher phenotype. Neuropediatrics. 34(3):127-36, 2003
                                    24. 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
                                    25. Hobson GM et al: A PLP splicing abnormality is associated with an unusual presentation of PMD. Ann Neurol. 52(4):477-88, 2002
                                    26. Koeppen AH et al: Pelizaeus-Merzbacher disease. J Neuropathol Exp Neurol. 61(9):747-59, 2002
                                    27. Southwood CM et al: The unfolded protein response modulates disease severity in Pelizaeus-Merzbacher disease. Neuron. 36(4):585-96, 2002
                                    28. Takanashi J et al: Brain N-acetylaspartate is elevated in Pelizaeus-Merzbacher disease with PLP1 duplication. Neurology. 58(2):237-41, 2002
                                    29. 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
                                    30. Cecil KM et al: Magnetic resonance spectroscopy of the pediatric brain. Top Magn Reson Imaging. 12(6):435-52, 2001
                                    31. Woodward K et al: CNS myelination and PLP gene dosage. Pharmacogenomics. 2(3):263-72, 2001
                                    32. 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

                                          TERMINOLOGY

                                          • Synonyms

                                            • Delayed myelin maturation, undermyelination

                                          • Definitions

                                            • Diminished or absent degree of white matter (WM) myelination expected for age
                                              • Myelin "milestones" not achieved
                                            • May be primary hypomyelination syndrome or secondary to other pathology
                                            • Distinct from demyelination
                                              • Demyelination = destruction of already present myelin
                                              • Dysmyelination = abnormal myelin development
                                                • May be indistinguishable from hypomyelination

                                          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. Pavlidou E et al: A novel PLP1 mutation associated with optic nerve enlargement in two siblings with Pelizaeus-Merzbacher disease: a new MRI finding. Brain Dev. 39(3):271-4, 2017
                                                                      2. Nahhas N et al: Pelizaeus-Merzbacher-like disease 1. GeneReviews. Seattle: University of Washington, 2017
                                                                      3. Nahhas N et al: TUBB4A-related leukodystrophy. GeneReviews. Seattle: University of Washington, 2016
                                                                      4. Mayer JA et al: Modeling the natural history of Pelizaeus-Merzbacher disease. Neurobiol Dis. 75:115-30, 2015
                                                                      5. Takanashi JI: Neurochemistry of Hypomyelination Investigated with MR Spectroscopy. Magn Reson Med Sci. ePub, 2015
                                                                      6. Numata Y et al: Epidemiological, clinical, and genetic landscapes of hypomyelinating leukodystrophies. J Neurol. 261(4):752-8, 2014
                                                                      7. Pizzino A et al: TUBB4A de novo mutations cause isolated hypomyelination. Neurology. 83(10):898-902, 2014
                                                                      8. Harreld JH et al: Trichothiodystrophy with dysmyelination and central osteosclerosis. AJNR Am J Neuroradiol. 31(1):129-30, 2010
                                                                      9. Pouwels PJ et al: Hypomyelinating leukodystrophies: translational research progress and prospects. Ann Neurol. 76(1):5-19, 2014
                                                                      10. Bernard G et al: POLR3-Related Leukodystrophy 2012
                                                                      11. Steenweg ME et al: Novel hypomyelinating leukoencephalopathy affecting early myelinating structures. Arch Neurol. 69(1):125-8, 2012
                                                                      12. Steenweg ME et al: Magnetic resonance imaging pattern recognition in hypomyelinating disorders. Brain. 133(10):2971-82, 2010
                                                                      13. Schiffmann R et al: Invited article: an MRI-based approach to the diagnosis of white matter disorders. Neurology. 72(8):750-9, 2009
                                                                      14. 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
                                                                      15. Barkovich AJ: Myelin mishaps. Ann Neurol. 62(2):107-9, 2007
                                                                      16. 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
                                                                      17. van der Voorn JP et al: Childhood white matter disorders: quantitative MR imaging and spectroscopy. Radiology. 241(2):510-7, 2006
                                                                      18. Barkovich AJ: Magnetic resonance techniques in the assessment of myelin and myelination. J Inherit Metab Dis. 28(3):311-43, 2005
                                                                      19. 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
                                                                      20. 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
                                                                      21. 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
                                                                      22. Pizzini F et al: Proton MR spectroscopic imaging in Pelizaeus-Merzbacher disease. AJNR Am J Neuroradiol. 24(8):1683-9, 2003
                                                                      23. Plecko B et al: Degree of hypomyelination and magnetic resonance spectroscopy findings in patients with Pelizaeus Merzbacher phenotype. Neuropediatrics. 34(3):127-36, 2003
                                                                      24. 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
                                                                      25. Hobson GM et al: A PLP splicing abnormality is associated with an unusual presentation of PMD. Ann Neurol. 52(4):477-88, 2002
                                                                      26. Koeppen AH et al: Pelizaeus-Merzbacher disease. J Neuropathol Exp Neurol. 61(9):747-59, 2002
                                                                      27. Southwood CM et al: The unfolded protein response modulates disease severity in Pelizaeus-Merzbacher disease. Neuron. 36(4):585-96, 2002
                                                                      28. Takanashi J et al: Brain N-acetylaspartate is elevated in Pelizaeus-Merzbacher disease with PLP1 duplication. Neurology. 58(2):237-41, 2002
                                                                      29. 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
                                                                      30. Cecil KM et al: Magnetic resonance spectroscopy of the pediatric brain. Top Magn Reson Imaging. 12(6):435-52, 2001
                                                                      31. Woodward K et al: CNS myelination and PLP gene dosage. Pharmacogenomics. 2(3):263-72, 2001
                                                                      32. Barkovich AJ: Concepts of myelin and myelination in neuroradiology. AJNR Am J Neuroradiol. 21(6):1099-109, 2000
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