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
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
Nahhas N et al: Pelizaeus-Merzbacher-like disease 1. GeneReviews. Seattle: University of Washington, 2017
Nahhas N et al: TUBB4A-related leukodystrophy. GeneReviews. Seattle: University of Washington, 2016
Mayer JA et al: Modeling the natural history of Pelizaeus-Merzbacher disease. Neurobiol Dis. 75:115-30, 2015
Takanashi JI: Neurochemistry of Hypomyelination Investigated with MR Spectroscopy. Magn Reson Med Sci. ePub, 2015
Numata Y et al: Epidemiological, clinical, and genetic landscapes of hypomyelinating leukodystrophies. J Neurol. 261(4):752-8, 2014
Pizzino A et al: TUBB4A de novo mutations cause isolated hypomyelination. Neurology. 83(10):898-902, 2014
Harreld JH et al: Trichothiodystrophy with dysmyelination and central osteosclerosis. AJNR Am J Neuroradiol. 31(1):129-30, 2010
Pouwels PJ et al: Hypomyelinating leukodystrophies: translational research progress and prospects. Ann Neurol. 76(1):5-19, 2014
Bernard G et al: POLR3-Related Leukodystrophy 2012
Steenweg ME et al: Novel hypomyelinating leukoencephalopathy affecting early myelinating structures. Arch Neurol. 69(1):125-8, 2012
Steenweg ME et al: Magnetic resonance imaging pattern recognition in hypomyelinating disorders. Brain. 133(10):2971-82, 2010
Schiffmann R et al: Invited article: an MRI-based approach to the diagnosis of white matter disorders. Neurology. 72(8):750-9, 2009
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
Barkovich AJ: Myelin mishaps. Ann Neurol. 62(2):107-9, 2007
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
van der Voorn JP et al: Childhood white matter disorders: quantitative MR imaging and spectroscopy. Radiology. 241(2):510-7, 2006
Barkovich AJ: Magnetic resonance techniques in the assessment of myelin and myelination. J Inherit Metab Dis. 28(3):311-43, 2005
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
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
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
Pizzini F et al: Proton MR spectroscopic imaging in Pelizaeus-Merzbacher disease. AJNR Am J Neuroradiol. 24(8):1683-9, 2003
Plecko B et al: Degree of hypomyelination and magnetic resonance spectroscopy findings in patients with Pelizaeus Merzbacher phenotype. Neuropediatrics. 34(3):127-36, 2003
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
Hobson GM et al: A PLP splicing abnormality is associated with an unusual presentation of PMD. Ann Neurol. 52(4):477-88, 2002
Southwood CM et al: The unfolded protein response modulates disease severity in Pelizaeus-Merzbacher disease. Neuron. 36(4):585-96, 2002
Takanashi J et al: Brain N-acetylaspartate is elevated in Pelizaeus-Merzbacher disease with PLP1 duplication. Neurology. 58(2):237-41, 2002
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
Cecil KM et al: Magnetic resonance spectroscopy of the pediatric brain. Top Magn Reson Imaging. 12(6):435-52, 2001
Woodward K et al: CNS myelination and PLP gene dosage. Pharmacogenomics. 2(3):263-72, 2001
Barkovich AJ: Concepts of myelin and myelination in neuroradiology. AJNR Am J Neuroradiol. 21(6):1099-109, 2000
Related Anatomy
Loading...
Related Differential Diagnoses
Loading...
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
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
Nahhas N et al: Pelizaeus-Merzbacher-like disease 1. GeneReviews. Seattle: University of Washington, 2017
Nahhas N et al: TUBB4A-related leukodystrophy. GeneReviews. Seattle: University of Washington, 2016
Mayer JA et al: Modeling the natural history of Pelizaeus-Merzbacher disease. Neurobiol Dis. 75:115-30, 2015
Takanashi JI: Neurochemistry of Hypomyelination Investigated with MR Spectroscopy. Magn Reson Med Sci. ePub, 2015
Numata Y et al: Epidemiological, clinical, and genetic landscapes of hypomyelinating leukodystrophies. J Neurol. 261(4):752-8, 2014
Pizzino A et al: TUBB4A de novo mutations cause isolated hypomyelination. Neurology. 83(10):898-902, 2014
Harreld JH et al: Trichothiodystrophy with dysmyelination and central osteosclerosis. AJNR Am J Neuroradiol. 31(1):129-30, 2010
Pouwels PJ et al: Hypomyelinating leukodystrophies: translational research progress and prospects. Ann Neurol. 76(1):5-19, 2014
Bernard G et al: POLR3-Related Leukodystrophy 2012
Steenweg ME et al: Novel hypomyelinating leukoencephalopathy affecting early myelinating structures. Arch Neurol. 69(1):125-8, 2012
Steenweg ME et al: Magnetic resonance imaging pattern recognition in hypomyelinating disorders. Brain. 133(10):2971-82, 2010
Schiffmann R et al: Invited article: an MRI-based approach to the diagnosis of white matter disorders. Neurology. 72(8):750-9, 2009
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
Barkovich AJ: Myelin mishaps. Ann Neurol. 62(2):107-9, 2007
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
van der Voorn JP et al: Childhood white matter disorders: quantitative MR imaging and spectroscopy. Radiology. 241(2):510-7, 2006
Barkovich AJ: Magnetic resonance techniques in the assessment of myelin and myelination. J Inherit Metab Dis. 28(3):311-43, 2005
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
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
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
Pizzini F et al: Proton MR spectroscopic imaging in Pelizaeus-Merzbacher disease. AJNR Am J Neuroradiol. 24(8):1683-9, 2003
Plecko B et al: Degree of hypomyelination and magnetic resonance spectroscopy findings in patients with Pelizaeus Merzbacher phenotype. Neuropediatrics. 34(3):127-36, 2003
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
Hobson GM et al: A PLP splicing abnormality is associated with an unusual presentation of PMD. Ann Neurol. 52(4):477-88, 2002
Southwood CM et al: The unfolded protein response modulates disease severity in Pelizaeus-Merzbacher disease. Neuron. 36(4):585-96, 2002
Takanashi J et al: Brain N-acetylaspartate is elevated in Pelizaeus-Merzbacher disease with PLP1 duplication. Neurology. 58(2):237-41, 2002
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
Cecil KM et al: Magnetic resonance spectroscopy of the pediatric brain. Top Magn Reson Imaging. 12(6):435-52, 2001
Woodward K et al: CNS myelination and PLP gene dosage. Pharmacogenomics. 2(3):263-72, 2001
Barkovich AJ: Concepts of myelin and myelination in neuroradiology. AJNR Am J Neuroradiol. 21(6):1099-109, 2000
STATdx includes over 200,000 searchable images, including x-ray, CT, MR, and ultrasound images. To access all images, please log in or subscribe.