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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
- Dysmyelination: Formation of abnormal myelin
- Caused by inherited enzyme deficiencies
- Lysosomal or peroxisomal enzymes
- Also caused by mutations in genes for WM structural proteins
- Inherited disorders resulting in abnormal production or maintenance of myelin
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
- Vanderver A et al: Leukodystrophy overview, 2014
- 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
- Bugiani M et al: Defective glial maturation in vanishing white matter disease. J Neuropathol Exp Neurol. 70(1):69-82, 2011
- Bonkowsky JL et al: The burden of inherited leukodystrophies in children. Neurology. 75(8):718-25, 2010
- i Dali C et al: Brain N-acetylaspartate levels correlate with motor function in metachromatic leukodystrophy. Neurology. 75(21):1896-903, 2010
- van der Knaap MS et al: Megalencephalic leukoencephalopathy with cysts without MLC1 defect. Ann Neurol. 67(6):834-7, 2010
- 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
- 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
- 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
- Brockmann K et al: Cerebral proton magnetic resonance spectroscopy in infantile Alexander disease. J Neurol. 250(3):300-6, 2003
- Brockmann K et al: Proton MRS profile of cerebral metabolic abnormalities in Krabbe disease. Neurology. 60(5):819-25, 2003
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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
- Dysmyelination: Formation of abnormal myelin
- Caused by inherited enzyme deficiencies
- Lysosomal or peroxisomal enzymes
- Also caused by mutations in genes for WM structural proteins
- Inherited disorders resulting in abnormal production or maintenance of myelin
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
- Vanderver A et al: Leukodystrophy overview, 2014
- 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
- Bugiani M et al: Defective glial maturation in vanishing white matter disease. J Neuropathol Exp Neurol. 70(1):69-82, 2011
- Bonkowsky JL et al: The burden of inherited leukodystrophies in children. Neurology. 75(8):718-25, 2010
- i Dali C et al: Brain N-acetylaspartate levels correlate with motor function in metachromatic leukodystrophy. Neurology. 75(21):1896-903, 2010
- van der Knaap MS et al: Megalencephalic leukoencephalopathy with cysts without MLC1 defect. Ann Neurol. 67(6):834-7, 2010
- 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
- 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
- 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
- Brockmann K et al: Cerebral proton magnetic resonance spectroscopy in infantile Alexander disease. J Neurol. 250(3):300-6, 2003
- Brockmann K et al: Proton MRS profile of cerebral metabolic abnormalities in Krabbe disease. Neurology. 60(5):819-25, 2003
