ABCD1 mutation → impaired β-oxidation (β-ox) of very long chain fatty acids (VLCFA)
Accumulation of VLCFAs in white matter (WM) causes severe inflammatory demyelination
Several clinical forms of ALD and related disorders
Classic X-ALD
Severe progressive form almost exclusively in boys 5-12 years
At least 6 variants other than classic childhood X-ALD exist: Presymptomatic X-ALD, adolescent (AdolCALD), adult (ACALD), adrenomyeloneuropathy (AMN), Addison only, symptomatic female carriers
AMN
"Mild" adult (spinocerebellar) form, cerebral involvement in up to 50%
X-ALD and AMN account for 80% of cases
IMAGING
General Features
CT Findings
MR Findings
Nuclear Medicine Findings
Imaging Recommendations
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
Staging, Grading, & Classification
Gross Pathologic & Surgical Features
Microscopic Features
CLINICAL ISSUES
Presentation
Demographics
Natural History & Prognosis
Treatment
DIAGNOSTIC CHECKLIST
Consider
Image Interpretation Pearls
Reporting Tips
Selected References
van Haren K et al: Measuring early lesion growth in boys with cerebral demyelinating adrenoleukodystrophy. Neurology. 92(15)691-3, 2019
Liberato AP et al: MRI brain lesions in asymptomatic boys with X-linked adrenoleukodystrophy. Neurology. 92(15):e1698-e1708, 2019
Parikh S et al: A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies. Mol Genet Metab. 114(4):501-15, 2015
Moser AB et al: Newborn screening and emerging therapies for X-linked adrenoleukodystrophy. JAMA Neurol. 75(10):1175-6, 2018
Siddiqui S et al: MRI in X-linked adrenoleukodystrophy. Neurology. 84(2):211, 2015
de Beer M et al: Frequent occurrence of cerebral demyelination in adrenomyeloneuropathy. Neurology. 83(24):2227-31, 2014
Engelen M et al: X-linked adrenoleukodystrophy in women: a cross-sectional cohort study. Brain. 137(Pt 3):693-706, 2014
Engelen M et al: X-linked adrenoleukodystrophy: pathogenesis and treatment. Curr Neurol Neurosci Rep. 14(10):486, 2014
McKinney AM et al: Childhood cerebral X-linked adrenoleukodystrophy: diffusion tensor imaging measurements for prediction of clinical outcome after hematopoietic stem cell transplantation. AJNR Am J Neuroradiol. 34(3):641-9, 2013
Santosh Rai PV et al: Childhood adrenoleukodystrophy - classic and variant - review of clinical manifestations and magnetic resonance imaging. J Pediatr Neurosci. 8(3):192-7, 2013
Engelen M et al: X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management. Orphanet J Rare Dis. 7:51, 2012
Hubbard WC et al: Newborn screening for X-linked adrenoleukodystrophy (X-ALD): validation of a combined liquid chromatography-tandem mass spectrometric (LC-MS/MS) method. Mol Genet Metab. 97(3):212-20, 2009
Semmler A et al: Genetic variants of methionine metabolism and X-ALD phenotype generation: results of a new study sample. J Neurol. 256(8):1277-80, 2009
Shukla P et al: Three novel variants in X-linked adrenoleukodystrophy. J Child Neurol. 24(7):857-60, 2009
Ratai E et al: Seven-Tesla proton magnetic resonance spectroscopic imaging in adult X-linked adrenoleukodystrophy. Arch Neurol. 65(11):1488-94, 2008
Mo YH et al: Adrenomyeloneuropathy, a dynamic progressive disorder: brain magnetic resonance imaging of two cases. Neuroradiology, 2004
Loes DJ et al: Analysis of MRI patterns aids prediction of progression in X-linked adrenoleukodystrophy. Neurology. 61(3):369-74, 2003
Schneider JF et al: Diffusion tensor imaging in cases of adrenoleukodystrophy: preliminary experience as a marker for early demyelination? AJNR Am J Neuroradiol. 24(5):819-24, 2003
Related Anatomy
Loading...
Related Differential Diagnoses
Loading...
References
Tables
Tables
KEY FACTS
Terminology
Imaging
Pathology
Clinical Issues
Diagnostic Checklist
TERMINOLOGY
Abbreviations
X-linked adrenoleukodystrophy (X-ALD, ALD)
Classic childhood ALD (CCALD)
Synonyms
Bronze Schilder disease
Definitions
Inherited peroxisomal disorder
ABCD1 mutation → impaired β-oxidation (β-ox) of very long chain fatty acids (VLCFA)
Accumulation of VLCFAs in white matter (WM) causes severe inflammatory demyelination
Several clinical forms of ALD and related disorders
Classic X-ALD
Severe progressive form almost exclusively in boys 5-12 years
At least 6 variants other than classic childhood X-ALD exist: Presymptomatic X-ALD, adolescent (AdolCALD), adult (ACALD), adrenomyeloneuropathy (AMN), Addison only, symptomatic female carriers
AMN
"Mild" adult (spinocerebellar) form, cerebral involvement in up to 50%
X-ALD and AMN account for 80% of cases
IMAGING
General Features
CT Findings
MR Findings
Nuclear Medicine Findings
Imaging Recommendations
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
Staging, Grading, & Classification
Gross Pathologic & Surgical Features
Microscopic Features
CLINICAL ISSUES
Presentation
Demographics
Natural History & Prognosis
Treatment
DIAGNOSTIC CHECKLIST
Consider
Image Interpretation Pearls
Reporting Tips
Selected References
van Haren K et al: Measuring early lesion growth in boys with cerebral demyelinating adrenoleukodystrophy. Neurology. 92(15)691-3, 2019
Liberato AP et al: MRI brain lesions in asymptomatic boys with X-linked adrenoleukodystrophy. Neurology. 92(15):e1698-e1708, 2019
Parikh S et al: A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies. Mol Genet Metab. 114(4):501-15, 2015
Moser AB et al: Newborn screening and emerging therapies for X-linked adrenoleukodystrophy. JAMA Neurol. 75(10):1175-6, 2018
Siddiqui S et al: MRI in X-linked adrenoleukodystrophy. Neurology. 84(2):211, 2015
de Beer M et al: Frequent occurrence of cerebral demyelination in adrenomyeloneuropathy. Neurology. 83(24):2227-31, 2014
Engelen M et al: X-linked adrenoleukodystrophy in women: a cross-sectional cohort study. Brain. 137(Pt 3):693-706, 2014
Engelen M et al: X-linked adrenoleukodystrophy: pathogenesis and treatment. Curr Neurol Neurosci Rep. 14(10):486, 2014
McKinney AM et al: Childhood cerebral X-linked adrenoleukodystrophy: diffusion tensor imaging measurements for prediction of clinical outcome after hematopoietic stem cell transplantation. AJNR Am J Neuroradiol. 34(3):641-9, 2013
Santosh Rai PV et al: Childhood adrenoleukodystrophy - classic and variant - review of clinical manifestations and magnetic resonance imaging. J Pediatr Neurosci. 8(3):192-7, 2013
Engelen M et al: X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management. Orphanet J Rare Dis. 7:51, 2012
Hubbard WC et al: Newborn screening for X-linked adrenoleukodystrophy (X-ALD): validation of a combined liquid chromatography-tandem mass spectrometric (LC-MS/MS) method. Mol Genet Metab. 97(3):212-20, 2009
Semmler A et al: Genetic variants of methionine metabolism and X-ALD phenotype generation: results of a new study sample. J Neurol. 256(8):1277-80, 2009
Shukla P et al: Three novel variants in X-linked adrenoleukodystrophy. J Child Neurol. 24(7):857-60, 2009
Ratai E et al: Seven-Tesla proton magnetic resonance spectroscopic imaging in adult X-linked adrenoleukodystrophy. Arch Neurol. 65(11):1488-94, 2008
Mo YH et al: Adrenomyeloneuropathy, a dynamic progressive disorder: brain magnetic resonance imaging of two cases. Neuroradiology, 2004
Loes DJ et al: Analysis of MRI patterns aids prediction of progression in X-linked adrenoleukodystrophy. Neurology. 61(3):369-74, 2003
Schneider JF et al: Diffusion tensor imaging in cases of adrenoleukodystrophy: preliminary experience as a marker for early demyelination? AJNR Am J Neuroradiol. 24(5):819-24, 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.