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Metachromatic Leukodystrophy (MLD)
Anna Illner, MD; Anne G. Osborn, MD, FACR
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Clinical Issues

          • Diagnostic Checklist

            TERMINOLOGY

            • Abbreviations

              • Metachromatic leukodystrophy (MLD)
            • Synonyms

              • Sulfatide lipoidosis
            • Definitions

              • Lysosomal storage disorder
                • Caused by ↓ arylsulfatase A (ARSA)
                • Results in CNS, PNS demyelination
              • 3 clinical forms: Late infantile (most common), juvenile, adult

            IMAGING

            • General Features

              • CT Findings

                • MR Findings

                  • Ultrasonographic Findings

                    • Nuclear Medicine Findings

                      • Imaging Recommendations

                        DIFFERENTIAL DIAGNOSIS

                          PATHOLOGY

                          • General Features

                            • Gross Pathologic & Surgical Features

                              • Microscopic Features

                                CLINICAL ISSUES

                                • Presentation

                                  • Demographics

                                    • Natural History & Prognosis

                                      • Treatment

                                        DIAGNOSTIC CHECKLIST

                                        • Consider

                                          • Image Interpretation Pearls

                                            Selected References

                                            1. Aronovich EL et al: Lysosomal storage disease: gene therapy on both sides of the blood-brain barrier. Mol Genet Metab. 114(2):83-93, 2015
                                            2. Zerah M et al: Intracerebral Gene Therapy Using AAVrh.10-hARSA Recombinant Vector to Treat Patients with Early-Onset Forms of Metachromatic Leukodystrophy: Preclinical Feasibility and Safety Assessments in Nonhuman Primates. Hum Gene Ther Clin Dev. ePub, 2015
                                            3. Ahmed RM et al: A practical approach to diagnosing adult onset leukodystrophies. J Neurol Neurosurg Psychiatry. 85(7):770-81, 2014
                                            4. Musolino PL et al: Hematopoietic stem cell transplantation in the leukodystrophies: a systematic review of the literature. Neuropediatrics. 45(3):169-74, 2014
                                            5. Müller vom Hagen J et al: Leukodystrophies underlying cryptic spastic paraparesis: frequency and phenotype in 76 patients. Eur J Neurol. 21(7):983-8, 2014
                                            6. van Egmond ME et al: Improvement of white matter changes on neuroimaging modalities after stem cell transplant in metachromatic leukodystrophy. JAMA Neurol. 70(6):779-82, 2013
                                            7. Groeschel S et al: Cerebral gray and white matter changes and clinical course in metachromatic leukodystrophy. Neurology. 79(16):1662-70, 2012
                                            8. Gieselmann V et al: Metachromatic leukodystrophy--an update. Neuropediatrics. 41(1):1-6, 2010
                                            9. Haberlandt E et al: Peripheral neuropathy as the sole initial finding in three children with infantile metachromatic leukodystrophy. Eur J Paediatr Neurol. 13(3):257-60, 2009
                                            10. Singh RK et al: Isolated cranial nerve enhancement in metachromatic leukodystrophy. Pediatr Neurol. 40(5):380-2, 2009
                                            11. Biffi A et al: Metachromatic leukodystrophy - mutation analysis provides further evidence of genotype-phenotype correlation. Clin Genet. 74(4):349-57, 2008
                                            12. Lagranha VL et al: In vitro correction of ARSA deficiency in human skin fibroblasts from metachromatic leukodystrophy patients after treatment with microencapsulated recombinant cells. Metab Brain Dis. 23(4):469-84, 2008
                                            13. Pierson TM et al: Umbilical cord blood transplantation for juvenile metachromatic leukodystrophy. Ann Neurol. 64(5):583-7, 2008
                                            14. Görg M et al: Stabilization of juvenile metachromatic leukodystrophy after bone marrow transplantation: a 13-year follow-up. J Child Neurol. 22(9):1139-42, 2007
                                            15. Maia AC Jr et al: Multiple cranial nerve enhancement: a new MR imaging finding in metachromatic leukodystrophy. AJNR Am J Neuroradiol. 28(6):999, 2007
                                            16. Patay Z: Diffusion-weighted MR imaging in leukodystrophies. Eur Radiol. 15(11):2284-303, 2005
                                            17. van der Voorn JP et al: Histopathologic correlates of radial stripes on MR images in lysosomal storage disorders. AJNR Am J Neuroradiol. 26(3):442-6, 2005
                                            18. Gallo S et al: Late onset MLD with normal nerve conduction associated with two novel missense mutations in the ASA gene. J Neurol Neurosurg Psychiatry. 75(4):655-7, 2004
                                            19. Sener RN: Metachromatic leukodystrophy. Diffusion MR imaging and proton MR spectroscopy. Acta Radiol. 44(4):440-3, 2003
                                            20. Engelbrecht V et al: Diffusion-weighted MR imaging in the brain in children: findings in the normal brain and in the brain with WM diseases. Radiology. 222(2):410-8, 2002
                                            21. Sener RN: Metachromatic leukodystrophy: diffusion MRI findings. AJNR Am J Neuroradiol. 23(8):1424-6, 2002
                                            Related Anatomy
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                                            Related Differential Diagnoses
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                                            References
                                            Tables

                                            Tables

                                            KEY FACTS

                                            • Terminology

                                              • Imaging

                                                • Top Differential Diagnoses

                                                  • Clinical Issues

                                                    • Diagnostic Checklist

                                                      TERMINOLOGY

                                                      • Abbreviations

                                                        • Metachromatic leukodystrophy (MLD)
                                                      • Synonyms

                                                        • Sulfatide lipoidosis
                                                      • Definitions

                                                        • Lysosomal storage disorder
                                                          • Caused by ↓ arylsulfatase A (ARSA)
                                                          • Results in CNS, PNS demyelination
                                                        • 3 clinical forms: Late infantile (most common), juvenile, adult

                                                      IMAGING

                                                      • General Features

                                                        • CT Findings

                                                          • MR Findings

                                                            • Ultrasonographic Findings

                                                              • Nuclear Medicine Findings

                                                                • Imaging Recommendations

                                                                  DIFFERENTIAL DIAGNOSIS

                                                                    PATHOLOGY

                                                                    • General Features

                                                                      • Gross Pathologic & Surgical Features

                                                                        • Microscopic Features

                                                                          CLINICAL ISSUES

                                                                          • Presentation

                                                                            • Demographics

                                                                              • Natural History & Prognosis

                                                                                • Treatment

                                                                                  DIAGNOSTIC CHECKLIST

                                                                                  • Consider

                                                                                    • Image Interpretation Pearls

                                                                                      Selected References

                                                                                      1. Aronovich EL et al: Lysosomal storage disease: gene therapy on both sides of the blood-brain barrier. Mol Genet Metab. 114(2):83-93, 2015
                                                                                      2. Zerah M et al: Intracerebral Gene Therapy Using AAVrh.10-hARSA Recombinant Vector to Treat Patients with Early-Onset Forms of Metachromatic Leukodystrophy: Preclinical Feasibility and Safety Assessments in Nonhuman Primates. Hum Gene Ther Clin Dev. ePub, 2015
                                                                                      3. Ahmed RM et al: A practical approach to diagnosing adult onset leukodystrophies. J Neurol Neurosurg Psychiatry. 85(7):770-81, 2014
                                                                                      4. Musolino PL et al: Hematopoietic stem cell transplantation in the leukodystrophies: a systematic review of the literature. Neuropediatrics. 45(3):169-74, 2014
                                                                                      5. Müller vom Hagen J et al: Leukodystrophies underlying cryptic spastic paraparesis: frequency and phenotype in 76 patients. Eur J Neurol. 21(7):983-8, 2014
                                                                                      6. van Egmond ME et al: Improvement of white matter changes on neuroimaging modalities after stem cell transplant in metachromatic leukodystrophy. JAMA Neurol. 70(6):779-82, 2013
                                                                                      7. Groeschel S et al: Cerebral gray and white matter changes and clinical course in metachromatic leukodystrophy. Neurology. 79(16):1662-70, 2012
                                                                                      8. Gieselmann V et al: Metachromatic leukodystrophy--an update. Neuropediatrics. 41(1):1-6, 2010
                                                                                      9. Haberlandt E et al: Peripheral neuropathy as the sole initial finding in three children with infantile metachromatic leukodystrophy. Eur J Paediatr Neurol. 13(3):257-60, 2009
                                                                                      10. Singh RK et al: Isolated cranial nerve enhancement in metachromatic leukodystrophy. Pediatr Neurol. 40(5):380-2, 2009
                                                                                      11. Biffi A et al: Metachromatic leukodystrophy - mutation analysis provides further evidence of genotype-phenotype correlation. Clin Genet. 74(4):349-57, 2008
                                                                                      12. Lagranha VL et al: In vitro correction of ARSA deficiency in human skin fibroblasts from metachromatic leukodystrophy patients after treatment with microencapsulated recombinant cells. Metab Brain Dis. 23(4):469-84, 2008
                                                                                      13. Pierson TM et al: Umbilical cord blood transplantation for juvenile metachromatic leukodystrophy. Ann Neurol. 64(5):583-7, 2008
                                                                                      14. Görg M et al: Stabilization of juvenile metachromatic leukodystrophy after bone marrow transplantation: a 13-year follow-up. J Child Neurol. 22(9):1139-42, 2007
                                                                                      15. Maia AC Jr et al: Multiple cranial nerve enhancement: a new MR imaging finding in metachromatic leukodystrophy. AJNR Am J Neuroradiol. 28(6):999, 2007
                                                                                      16. Patay Z: Diffusion-weighted MR imaging in leukodystrophies. Eur Radiol. 15(11):2284-303, 2005
                                                                                      17. van der Voorn JP et al: Histopathologic correlates of radial stripes on MR images in lysosomal storage disorders. AJNR Am J Neuroradiol. 26(3):442-6, 2005
                                                                                      18. Gallo S et al: Late onset MLD with normal nerve conduction associated with two novel missense mutations in the ASA gene. J Neurol Neurosurg Psychiatry. 75(4):655-7, 2004
                                                                                      19. Sener RN: Metachromatic leukodystrophy. Diffusion MR imaging and proton MR spectroscopy. Acta Radiol. 44(4):440-3, 2003
                                                                                      20. Engelbrecht V et al: Diffusion-weighted MR imaging in the brain in children: findings in the normal brain and in the brain with WM diseases. Radiology. 222(2):410-8, 2002
                                                                                      21. Sener RN: Metachromatic leukodystrophy: diffusion MRI findings. AJNR Am J Neuroradiol. 23(8):1424-6, 2002