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X-Linked Adrenoleukodystrophy
Susan I. Blaser, MD, FRCPC
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KEY FACTS

  • Terminology

    • Imaging

      • Pathology

        • Clinical Issues

          • Diagnostic Checklist

            TERMINOLOGY

            • Abbreviations

              • X-linked adrenoleukodystrophy (X-ALD)
            • Synonyms

              • Bronze Schilder disease
            • Definitions

              • Inherited disorder of peroxisome metabolism, impaired β-oxidation (β-ox) of very long chain fatty acids (VLCFA)
                • X-linked adrenoleukodystrophy (X-ALD): Severe progressive form usually affects preteen males
                • Adrenomyeloneuropathy (AMN): "Mild" adult (spinocerebellar) form, cerebral involvement in up to 50%
                • At least 6 variants other than childhood cerebral X-ALD (CCALD) exist: Presymptomatic X-ALD, adolescent (AdolCALD), adult (ACALD), AMN, Addison only, symptomatic female carriers
                • 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. 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
                                              2. 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
                                              3. 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
                                              4. 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
                                              5. 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
                                              6. Shukla P et al: Three novel variants in X-linked adrenoleukodystrophy. J Child Neurol. 24(7):857-60, 2009
                                              7. Ratai E et al: Seven-Tesla proton magnetic resonance spectroscopic imaging in adult X-linked adrenoleukodystrophy. Arch Neurol. 65(11):1488-94, 2008
                                              8. Mo YH et al: Adrenomyeloneuropathy, a dynamic progressive disorder: brain magnetic resonance imaging of two cases. Neuroradiology, 2004
                                              9. Loes DJ et al: Analysis of MRI patterns aids prediction of progression in X-linked adrenoleukodystrophy. Neurology. 61(3):369-74, 2003
                                              10. 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
                                              11. Melhem ER et al: X-linked adrenoleukodystrophy: the role of contrast-enhanced MR imaging in predicting disease progression. AJNR Am J Neuroradiol. 21(5):839-44, 2000
                                              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)
                                                        • Synonyms

                                                          • Bronze Schilder disease
                                                        • Definitions

                                                          • Inherited disorder of peroxisome metabolism, impaired β-oxidation (β-ox) of very long chain fatty acids (VLCFA)
                                                            • X-linked adrenoleukodystrophy (X-ALD): Severe progressive form usually affects preteen males
                                                            • Adrenomyeloneuropathy (AMN): "Mild" adult (spinocerebellar) form, cerebral involvement in up to 50%
                                                            • At least 6 variants other than childhood cerebral X-ALD (CCALD) exist: Presymptomatic X-ALD, adolescent (AdolCALD), adult (ACALD), AMN, Addison only, symptomatic female carriers
                                                            • 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. 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
                                                                                          2. 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
                                                                                          3. 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
                                                                                          4. 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
                                                                                          5. 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
                                                                                          6. Shukla P et al: Three novel variants in X-linked adrenoleukodystrophy. J Child Neurol. 24(7):857-60, 2009
                                                                                          7. Ratai E et al: Seven-Tesla proton magnetic resonance spectroscopic imaging in adult X-linked adrenoleukodystrophy. Arch Neurol. 65(11):1488-94, 2008
                                                                                          8. Mo YH et al: Adrenomyeloneuropathy, a dynamic progressive disorder: brain magnetic resonance imaging of two cases. Neuroradiology, 2004
                                                                                          9. Loes DJ et al: Analysis of MRI patterns aids prediction of progression in X-linked adrenoleukodystrophy. Neurology. 61(3):369-74, 2003
                                                                                          10. 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
                                                                                          11. Melhem ER et al: X-linked adrenoleukodystrophy: the role of contrast-enhanced MR imaging in predicting disease progression. AJNR Am J Neuroradiol. 21(5):839-44, 2000