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Metachromatic Leukodystrophy
Anna Illner, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Clinical Issues

          TERMINOLOGY

          • Abbreviations

            • Metachromatic leukodystrophy (MLD)
          • Synonyms

            • Sulfatide lipoidosis
          • Definitions

            • Lysosomal storage disorder caused by ↓ arylsulfatase A (ARSA) resulting in central (CNS) and peripheral (PNS) nervous system 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. 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
                                          2. Groeschel S et al: Cerebral gray and white matter changes and clinical course in metachromatic leukodystrophy. Neurology. 79(16):1662-70, 2012
                                          3. Gieselmann V et al: Metachromatic leukodystrophy--an update. Neuropediatrics. 41(1):1-6, 2010
                                          4. 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
                                          5. Singh RK et al: Isolated cranial nerve enhancement in metachromatic leukodystrophy. Pediatr Neurol. 40(5):380-2, 2009
                                          6. Biffi A et al: Metachromatic leukodystrophy - mutation analysis provides further evidence of genotype-phenotype correlation. Clin Genet. 74(4):349-57, 2008
                                          7. 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
                                          8. Pierson TM et al: Umbilical cord blood transplantation for juvenile metachromatic leukodystrophy. Ann Neurol. 64(5):583-7, 2008
                                          9. 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
                                          10. 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
                                          11. Patay Z: Diffusion-weighted MR imaging in leukodystrophies. Eur Radiol. 15(11):2284-303, 2005
                                          12. 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
                                          13. 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
                                          14. Sener RN: Metachromatic leukodystrophy. Diffusion MR imaging and proton MR spectroscopy. Acta Radiol. 44(4):440-3, 2003
                                          15. 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
                                          16. Sener RN: Metachromatic leukodystrophy: diffusion MRI findings. AJNR Am J Neuroradiol. 23(8):1424-6, 2002
                                          17. Johannsen P et al: Dementia with impaired temporal glucose metabolism in late-onset MLD. Dement Geriatr Cogn Disord. 12(2):85-8, 2001
                                          18. Weber Byars AM et al: Metachromatic leukodystrophy and nonverbal learning disability: neuropsychological and neuroradiological findings in heterozygous carriers. Child Neuropsychol. 7(1):54-8, 2001
                                          19. Parmeggiani A et al: Sneddon syndrome, arylsulfatase A pseudodeficiency and impairment of cerebral white matter. Brain Dev. 22(6):390-3, 2000
                                          20. Faerber EN et al: MRI appearances of metachromatic leukodystrophy. Pediatr Radiol. 29(9):669-72, 1999
                                          21. Fukutani Y et al: Adult-type metachromatic leukodystrophy with a compound heterozygote mutation showing character change and dementia. Psychiatry Clin Neurosci. 53(3):425-8, 1999
                                          22. Kim TS et al: MR of childhood metachromatic leukodystrophy. AJNR Am J Neuroradiol. 18(4):733-8, 1997
                                          23. Gieselmann V et al: Molecular genetics of metachromatic leukodystrophy. Hum Mutat. 4(4):233-42, 1994
                                          24. Stillman AE et al: Serial MR after bone marrow transplantation in two patients with metachromatic leukodystrophy. AJNR Am J Neuroradiol. 15(10):1929-32, 1994
                                          25. Biffi A et al: overview of current and prospective treatments. Bone Marrow Transplant. 2008 Oct;42 Suppl 2:S2-6. 42 Suppl 2:S2-6,
                                          26. Gieselmann V. Metachromatic leukodystrophy: genetics et al: therapeutic options. Acta Paediatr Suppl. 2008 Apr;97(457):15-21. PubMed PMID: 18339182.
                                          27. Oguz KK et al: juvenile metachromatic leukodystrophy. Neuropediatrics. 2004 Oct;35(5):279-82. PubMed PMID: 15534760.
                                          28. Toldo I et al: MRI findings in metachromatic leukodystrophy: case report. Neuroradiology. 2005 Aug;47(8):572-5. 47(8):572-5,
                                          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

                                                  TERMINOLOGY

                                                  • Abbreviations

                                                    • Metachromatic leukodystrophy (MLD)
                                                  • Synonyms

                                                    • Sulfatide lipoidosis
                                                  • Definitions

                                                    • Lysosomal storage disorder caused by ↓ arylsulfatase A (ARSA) resulting in central (CNS) and peripheral (PNS) nervous system 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. 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
                                                                                  2. Groeschel S et al: Cerebral gray and white matter changes and clinical course in metachromatic leukodystrophy. Neurology. 79(16):1662-70, 2012
                                                                                  3. Gieselmann V et al: Metachromatic leukodystrophy--an update. Neuropediatrics. 41(1):1-6, 2010
                                                                                  4. 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
                                                                                  5. Singh RK et al: Isolated cranial nerve enhancement in metachromatic leukodystrophy. Pediatr Neurol. 40(5):380-2, 2009
                                                                                  6. Biffi A et al: Metachromatic leukodystrophy - mutation analysis provides further evidence of genotype-phenotype correlation. Clin Genet. 74(4):349-57, 2008
                                                                                  7. 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
                                                                                  8. Pierson TM et al: Umbilical cord blood transplantation for juvenile metachromatic leukodystrophy. Ann Neurol. 64(5):583-7, 2008
                                                                                  9. 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
                                                                                  10. 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
                                                                                  11. Patay Z: Diffusion-weighted MR imaging in leukodystrophies. Eur Radiol. 15(11):2284-303, 2005
                                                                                  12. 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
                                                                                  13. 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
                                                                                  14. Sener RN: Metachromatic leukodystrophy. Diffusion MR imaging and proton MR spectroscopy. Acta Radiol. 44(4):440-3, 2003
                                                                                  15. 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
                                                                                  16. Sener RN: Metachromatic leukodystrophy: diffusion MRI findings. AJNR Am J Neuroradiol. 23(8):1424-6, 2002
                                                                                  17. Johannsen P et al: Dementia with impaired temporal glucose metabolism in late-onset MLD. Dement Geriatr Cogn Disord. 12(2):85-8, 2001
                                                                                  18. Weber Byars AM et al: Metachromatic leukodystrophy and nonverbal learning disability: neuropsychological and neuroradiological findings in heterozygous carriers. Child Neuropsychol. 7(1):54-8, 2001
                                                                                  19. Parmeggiani A et al: Sneddon syndrome, arylsulfatase A pseudodeficiency and impairment of cerebral white matter. Brain Dev. 22(6):390-3, 2000
                                                                                  20. Faerber EN et al: MRI appearances of metachromatic leukodystrophy. Pediatr Radiol. 29(9):669-72, 1999
                                                                                  21. Fukutani Y et al: Adult-type metachromatic leukodystrophy with a compound heterozygote mutation showing character change and dementia. Psychiatry Clin Neurosci. 53(3):425-8, 1999
                                                                                  22. Kim TS et al: MR of childhood metachromatic leukodystrophy. AJNR Am J Neuroradiol. 18(4):733-8, 1997
                                                                                  23. Gieselmann V et al: Molecular genetics of metachromatic leukodystrophy. Hum Mutat. 4(4):233-42, 1994
                                                                                  24. Stillman AE et al: Serial MR after bone marrow transplantation in two patients with metachromatic leukodystrophy. AJNR Am J Neuroradiol. 15(10):1929-32, 1994
                                                                                  25. Biffi A et al: overview of current and prospective treatments. Bone Marrow Transplant. 2008 Oct;42 Suppl 2:S2-6. 42 Suppl 2:S2-6,
                                                                                  26. Gieselmann V. Metachromatic leukodystrophy: genetics et al: therapeutic options. Acta Paediatr Suppl. 2008 Apr;97(457):15-21. PubMed PMID: 18339182.
                                                                                  27. Oguz KK et al: juvenile metachromatic leukodystrophy. Neuropediatrics. 2004 Oct;35(5):279-82. PubMed PMID: 15534760.
                                                                                  28. Toldo I et al: MRI findings in metachromatic leukodystrophy: case report. Neuroradiology. 2005 Aug;47(8):572-5. 47(8):572-5,