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X-Linked Adrenoleukodystrophy
Susan I. Blaser, MD, FRCPC; Anne G. Osborn, MD, FACR
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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 males 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

                                              1. Parikh S et al: A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies. Mol Genet Metab. 114(4):501-515, 2015
                                              2. Siddiqui S et al: MRI in X-linked adrenoleukodystrophy. Neurology. 84(2):211, 2015
                                              3. de Beer M et al: Frequent occurrence of cerebral demyelination in adrenomyeloneuropathy. Neurology. 83(24):2227-31, 2014
                                              4. Engelen M et al: X-linked adrenoleukodystrophy in women: a cross-sectional cohort study. Brain. 137(Pt 3):693-706, 2014
                                              5. Engelen M et al: X-linked adrenoleukodystrophy: pathogenesis and treatment. Curr Neurol Neurosci Rep. 14(10):486, 2014
                                              6. 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
                                              7. 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
                                              8. 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
                                              9. 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
                                              10. 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
                                              11. Shukla P et al: Three novel variants in X-linked adrenoleukodystrophy. J Child Neurol. 24(7):857-60, 2009
                                              12. Ratai E et al: Seven-Tesla proton magnetic resonance spectroscopic imaging in adult X-linked adrenoleukodystrophy. Arch Neurol. 65(11):1488-94, 2008
                                              13. Mo YH et al: Adrenomyeloneuropathy, a dynamic progressive disorder: brain magnetic resonance imaging of two cases. Neuroradiology, 2004
                                              14. Loes DJ et al: Analysis of MRI patterns aids prediction of progression in X-linked adrenoleukodystrophy. Neurology. 61(3):369-74, 2003
                                              15. 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
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                                              Related Differential Diagnoses
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                                              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 males 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

                                                                                          1. Parikh S et al: A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies. Mol Genet Metab. 114(4):501-515, 2015
                                                                                          2. Siddiqui S et al: MRI in X-linked adrenoleukodystrophy. Neurology. 84(2):211, 2015
                                                                                          3. de Beer M et al: Frequent occurrence of cerebral demyelination in adrenomyeloneuropathy. Neurology. 83(24):2227-31, 2014
                                                                                          4. Engelen M et al: X-linked adrenoleukodystrophy in women: a cross-sectional cohort study. Brain. 137(Pt 3):693-706, 2014
                                                                                          5. Engelen M et al: X-linked adrenoleukodystrophy: pathogenesis and treatment. Curr Neurol Neurosci Rep. 14(10):486, 2014
                                                                                          6. 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
                                                                                          7. 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
                                                                                          8. 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
                                                                                          9. 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
                                                                                          10. 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
                                                                                          11. Shukla P et al: Three novel variants in X-linked adrenoleukodystrophy. J Child Neurol. 24(7):857-60, 2009
                                                                                          12. Ratai E et al: Seven-Tesla proton magnetic resonance spectroscopic imaging in adult X-linked adrenoleukodystrophy. Arch Neurol. 65(11):1488-94, 2008
                                                                                          13. Mo YH et al: Adrenomyeloneuropathy, a dynamic progressive disorder: brain magnetic resonance imaging of two cases. Neuroradiology, 2004
                                                                                          14. Loes DJ et al: Analysis of MRI patterns aids prediction of progression in X-linked adrenoleukodystrophy. Neurology. 61(3):369-74, 2003
                                                                                          15. 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