link
Bookmarks
Megalencephaly With Leukoencephalopathy and Cysts (MLC)
Susan I. Blaser, MD, FRCPC
To access 4,300 diagnoses written by the world's leading experts in radiology, please log in or subscribe.Log inSubscribe
0
0
3
0

KEY FACTS

  • Terminology

    • Imaging

      • Pathology

        • Clinical Issues

          • Diagnostic Checklist

            TERMINOLOGY

            • Abbreviations

              • Megalencephaly with leukoencephalopathy and subcortical cysts (MLC)
            • Synonyms

              • Formerly
                • Vacuolating megaloencephalic leukoencephalopathy with benign, slowly progressive course
                • Infantile-onset leukoencephalopathy with swelling and discrepantly mild course
                • van der Knaap disease
                  • 1 of many disorders eponymously named after that author
                • Indian Agarwal megaloencephalic leukodystrophy
            • Definitions

              • Autosomal recessive disorder of astrocytic volume-regulated anion currents
                • Characterized by macrocephaly, motor/cognitive decline, ataxia, spasticity

            IMAGING

            • General Features

              • CT Findings

                • MR 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

                                        • Reporting Tips

                                          Selected References

                                          1. Kariminejad A et al: Eight novel mutations in MLC1 from 18 Iranian patients with megalencephalic leukoencephalopathy with subcortical cysts. Eur J Med Genet. 58(2):71-4, 2015
                                          2. Mahmoud IG et al: Clinical, neuroimaging, and genetic characteristics of megalencephalic leukoencephalopathy with subcortical cysts in Egyptian patients. Pediatr Neurol. 50(2):140-8, 2014
                                          3. Capdevila-Nortes X et al: Insights into MLC pathogenesis: GlialCAM is an MLC1 chaperone required for proper activation of volume-regulated anion currents. Hum Mol Genet. 22(21):4405-16, 2013
                                          4. Rodriguez D: Leukodystrophies with astrocytic dysfunction. Handb Clin Neurol. 113:1619-28, 2013
                                          5. Renaud DL: Leukoencephalopathies associated with macrocephaly. Semin Neurol. 32(1):34-41, 2012
                                          6. van der Knaap MS et al: Megalencephalic leukoencephalopathy with subcortical cysts: chronic white matter oedema due to a defect in brain ion and water homoeostasis. Lancet Neurol. 11(11):973-85, 2012
                                          7. Miles L et al: Megalencephalic leukoencephalopathy with subcortical cysts: a third confirmed case with literature review. Pediatr Dev Pathol. 12(3):180-6, 2009
                                          8. Duarri A et al: Molecular pathogenesis of megalencephalic leukoencephalopathy with subcortical cysts: mutations in MLC1 cause folding defects. Hum Mol Genet. 17(23):3728-39, 2008
                                          9. Shukla P et al: Prenatal diagnosis of megalencephalic leukodystrophy. Prenat Diagn. 28(4):357-9, 2008
                                          10. Boor I et al: MLC1 is associated with the dystrophin-glycoprotein complex at astrocytic endfeet. Acta Neuropathol. 114(4):403-10, 2007
                                          11. Kiriyama T et al: SPECT revealed cortical dysfunction in a patient who had genetically definite megalencephalic leukoencephalopathy with subcortical cysts. Clin Neurol Neurosurg. 109(6):526-30, 2007
                                          12. Teijido O et al: Expression patterns of MLC1 protein in the central and peripheral nervous systems. Neurobiol Dis. 26(3):532-45, 2007
                                          13. Ilja Boor PK et al: Megalencephalic leukoencephalopathy with subcortical cysts: an update and extended mutation analysis of MLC1. Hum Mutat. 27(6):505-12, 2006
                                          14. Morita H et al: MR imaging and 1H-MR spectroscopy of a case of van der Knaap disease. Brain Dev. 28(7):466-9, 2006
                                          15. Schiffmann R et al: The latest on leukodystrophies. Curr Opin Neurol. 17(2):187-92, 2004
                                          16. Brockmann K et al: Megalencephalic leukoencephalopathy with subcortical cysts in an adult: quantitative proton MR spectroscopy and diffusion tensor MRI. Neuroradiology. 45(3):137-42, 2003
                                          17. De Stefano N et al: Severe metabolic abnormalities in the white matter of patients with vacuolating megalencephalic leukoencephalopathy with subcortical cysts. A proton MR spectroscopic imaging study. J Neurol. 248(5):403-9, 2001
                                          18. Leegwater PA et al: Mutations of MLC1 (KIAA0027), encoding a putative membrane protein, cause megalencephalic leukoencephalopathy with subcortical cysts. Am J Hum Genet. 68(4):831-8, 2001
                                          19. van der Knaap MS et al: Defining and categorizing leukoencephalopathies of unknown origin: MR imaging approach. Radiology. 213(1):121-33, 1999
                                          20. van der Knaap MS et al: Histopathology of an infantile-onset spongiform leukoencephalopathy with a discrepantly mild clinical course. Acta Neuropathol. 92(2):206-12, 1996
                                          Related Anatomy
                                          Loading...
                                          Related Differential Diagnoses
                                          Loading...
                                          References
                                          Tables

                                          Tables

                                          KEY FACTS

                                          • Terminology

                                            • Imaging

                                              • Pathology

                                                • Clinical Issues

                                                  • Diagnostic Checklist

                                                    TERMINOLOGY

                                                    • Abbreviations

                                                      • Megalencephaly with leukoencephalopathy and subcortical cysts (MLC)
                                                    • Synonyms

                                                      • Formerly
                                                        • Vacuolating megaloencephalic leukoencephalopathy with benign, slowly progressive course
                                                        • Infantile-onset leukoencephalopathy with swelling and discrepantly mild course
                                                        • van der Knaap disease
                                                          • 1 of many disorders eponymously named after that author
                                                        • Indian Agarwal megaloencephalic leukodystrophy
                                                    • Definitions

                                                      • Autosomal recessive disorder of astrocytic volume-regulated anion currents
                                                        • Characterized by macrocephaly, motor/cognitive decline, ataxia, spasticity

                                                    IMAGING

                                                    • General Features

                                                      • CT Findings

                                                        • MR 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

                                                                                • Reporting Tips

                                                                                  Selected References

                                                                                  1. Kariminejad A et al: Eight novel mutations in MLC1 from 18 Iranian patients with megalencephalic leukoencephalopathy with subcortical cysts. Eur J Med Genet. 58(2):71-4, 2015
                                                                                  2. Mahmoud IG et al: Clinical, neuroimaging, and genetic characteristics of megalencephalic leukoencephalopathy with subcortical cysts in Egyptian patients. Pediatr Neurol. 50(2):140-8, 2014
                                                                                  3. Capdevila-Nortes X et al: Insights into MLC pathogenesis: GlialCAM is an MLC1 chaperone required for proper activation of volume-regulated anion currents. Hum Mol Genet. 22(21):4405-16, 2013
                                                                                  4. Rodriguez D: Leukodystrophies with astrocytic dysfunction. Handb Clin Neurol. 113:1619-28, 2013
                                                                                  5. Renaud DL: Leukoencephalopathies associated with macrocephaly. Semin Neurol. 32(1):34-41, 2012
                                                                                  6. van der Knaap MS et al: Megalencephalic leukoencephalopathy with subcortical cysts: chronic white matter oedema due to a defect in brain ion and water homoeostasis. Lancet Neurol. 11(11):973-85, 2012
                                                                                  7. Miles L et al: Megalencephalic leukoencephalopathy with subcortical cysts: a third confirmed case with literature review. Pediatr Dev Pathol. 12(3):180-6, 2009
                                                                                  8. Duarri A et al: Molecular pathogenesis of megalencephalic leukoencephalopathy with subcortical cysts: mutations in MLC1 cause folding defects. Hum Mol Genet. 17(23):3728-39, 2008
                                                                                  9. Shukla P et al: Prenatal diagnosis of megalencephalic leukodystrophy. Prenat Diagn. 28(4):357-9, 2008
                                                                                  10. Boor I et al: MLC1 is associated with the dystrophin-glycoprotein complex at astrocytic endfeet. Acta Neuropathol. 114(4):403-10, 2007
                                                                                  11. Kiriyama T et al: SPECT revealed cortical dysfunction in a patient who had genetically definite megalencephalic leukoencephalopathy with subcortical cysts. Clin Neurol Neurosurg. 109(6):526-30, 2007
                                                                                  12. Teijido O et al: Expression patterns of MLC1 protein in the central and peripheral nervous systems. Neurobiol Dis. 26(3):532-45, 2007
                                                                                  13. Ilja Boor PK et al: Megalencephalic leukoencephalopathy with subcortical cysts: an update and extended mutation analysis of MLC1. Hum Mutat. 27(6):505-12, 2006
                                                                                  14. Morita H et al: MR imaging and 1H-MR spectroscopy of a case of van der Knaap disease. Brain Dev. 28(7):466-9, 2006
                                                                                  15. Schiffmann R et al: The latest on leukodystrophies. Curr Opin Neurol. 17(2):187-92, 2004
                                                                                  16. Brockmann K et al: Megalencephalic leukoencephalopathy with subcortical cysts in an adult: quantitative proton MR spectroscopy and diffusion tensor MRI. Neuroradiology. 45(3):137-42, 2003
                                                                                  17. De Stefano N et al: Severe metabolic abnormalities in the white matter of patients with vacuolating megalencephalic leukoencephalopathy with subcortical cysts. A proton MR spectroscopic imaging study. J Neurol. 248(5):403-9, 2001
                                                                                  18. Leegwater PA et al: Mutations of MLC1 (KIAA0027), encoding a putative membrane protein, cause megalencephalic leukoencephalopathy with subcortical cysts. Am J Hum Genet. 68(4):831-8, 2001
                                                                                  19. van der Knaap MS et al: Defining and categorizing leukoencephalopathies of unknown origin: MR imaging approach. Radiology. 213(1):121-33, 1999
                                                                                  20. van der Knaap MS et al: Histopathology of an infantile-onset spongiform leukoencephalopathy with a discrepantly mild clinical course. Acta Neuropathol. 92(2):206-12, 1996