To access 4,300 diagnoses written by the world's leading experts in radiology, please log in or subscribe.Log inSubscribe
0
3
2
0
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
Caused by inherited enzyme deficiencies
Lysosomal or peroxisomal enzymes
Also caused by mutations in genes for WM structural proteins
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
Related Anatomy
Loading...
Related Differential Diagnoses
Loading...
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
Caused by inherited enzyme deficiencies
Lysosomal or peroxisomal enzymes
Also caused by mutations in genes for WM structural proteins
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
STATdx includes over 200,000 searchable images, including x-ray, CT, MR and ultrasound images. To access all images, please log in or subscribe.