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Lissencephaly
Blaise V. Jones, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          TERMINOLOGY

          • Abbreviations

            • Lissencephaly (LIS)
          • Synonyms

            • Classical LIS, type 1 LIS, pachygyria-agyria complex, X-linked LIS
          • Definitions

            • Disorders of cortical formation caused by arrested neuronal migration, resulting in thick 4-layer cortex and smooth brain surface
            • Significant overlap with band heterotopia (BH)
              • BH → overwhelmingly female, associated with DCX gene mutations
                • Considered mildest end of lissencephaly spectrum
              • Outer cortical layer in BH has relatively normal sulcation and thickness

          IMAGING

          • General Features

            • CT Findings

              • MR Findings

                • Ultrasonographic Findings

                  • Nuclear Medicine Findings

                    • Imaging Recommendations

                      DIFFERENTIAL DIAGNOSIS

                        PATHOLOGY

                        • General Features

                          • Microscopic Features

                            CLINICAL ISSUES

                            • Presentation

                              • Demographics

                                • Natural History & Prognosis

                                  • Treatment

                                    DIAGNOSTIC CHECKLIST

                                    • Consider

                                      • Image Interpretation Pearls

                                        • Reporting Tips

                                          Selected References

                                          1. Fry AE et al: The genetics of lissencephaly. Am J Med Genet C Semin Med Genet. 166C(2):198-210, 2014
                                          2. Bahi-Buisson N et al: New insights into genotype-phenotype correlations for the doublecortin-related lissencephaly spectrum. Brain. 136(Pt 1):223-44, 2013
                                          3. Okumura A et al: Lissencephaly with marked ventricular dilation, agenesis of corpus callosum, and cerebellar hypoplasia caused by TUBA1A mutation. Brain Dev. 35(3):274-9, 2013
                                          4. Poduri A et al: Somatic mutation, genomic variation, and neurological disease. Science. 341(6141):1237758, 2013
                                          5. Poirier K et al: Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly. Nat Genet. 2013 Jun;45(6):639-47. Epub 2013 Apr 21. Erratum in: Nat Genet. 45(8):962, 2013
                                          6. Toba S et al: A unique role of dynein and nud family proteins in corticogenesis. Neuropathology. 32(4):432-9, 2012
                                          7. Alkuraya FS et al: Human mutations in NDE1 cause extreme microcephaly with lissencephaly [corrected]. Am J Hum Genet. 2011 May 13;88(5):536-47. Epub 2011 Apr 28. Erratum in: Am J Hum Genet. 88(5):677, 2011
                                          8. Jansen AC et al: TUBA1A mutations: from isolated lissencephaly to familial polymicrogyria. Neurology. 76(11):988-92, 2011
                                          9. Morris-Rosendahl DJ et al: Refining the phenotype of alpha-1a Tubulin (TUBA1A) mutation in patients with classical lissencephaly. Clin Genet. 74(5):425-33, 2008
                                          10. Reiner O et al: Lissencephaly 1 linking to multiple diseases: mental retardation, neurodegeneration, schizophrenia, male sterility, and more. Neuromolecular Med. 8(4):547-65, 2006
                                          11. Sicca F et al: Mosaic mutations of the LIS1 gene cause subcortical band heterotopia. Neurology. 61(8):1042-6, 2003
                                          12. Barkovich AJ et al: Classification system for malformations of cortical development: update 2001. Neurology. 57(12):2168-78, 2001
                                          13. Pfund Z et al: Lissencephaly: fetal pattern of glucose metabolism on positron emission tomography? Neurology. 55(11):1683-8, 2000
                                          14. Pilz DT et al: Subcortical band heterotopia in rare affected males can be caused by missense mutations in DCX (XLIS) or LIS1. Hum Mol Genet. 8(9):1757-60, 1999
                                          Related Anatomy
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                                          Related Differential Diagnoses
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                                          References
                                          Tables

                                          Tables

                                          KEY FACTS

                                          • Terminology

                                            • Imaging

                                              • Top Differential Diagnoses

                                                • Pathology

                                                  TERMINOLOGY

                                                  • Abbreviations

                                                    • Lissencephaly (LIS)
                                                  • Synonyms

                                                    • Classical LIS, type 1 LIS, pachygyria-agyria complex, X-linked LIS
                                                  • Definitions

                                                    • Disorders of cortical formation caused by arrested neuronal migration, resulting in thick 4-layer cortex and smooth brain surface
                                                    • Significant overlap with band heterotopia (BH)
                                                      • BH → overwhelmingly female, associated with DCX gene mutations
                                                        • Considered mildest end of lissencephaly spectrum
                                                      • Outer cortical layer in BH has relatively normal sulcation and thickness

                                                  IMAGING

                                                  • General Features

                                                    • CT Findings

                                                      • MR Findings

                                                        • Ultrasonographic Findings

                                                          • Nuclear Medicine Findings

                                                            • Imaging Recommendations

                                                              DIFFERENTIAL DIAGNOSIS

                                                                PATHOLOGY

                                                                • General Features

                                                                  • Microscopic Features

                                                                    CLINICAL ISSUES

                                                                    • Presentation

                                                                      • Demographics

                                                                        • Natural History & Prognosis

                                                                          • Treatment

                                                                            DIAGNOSTIC CHECKLIST

                                                                            • Consider

                                                                              • Image Interpretation Pearls

                                                                                • Reporting Tips

                                                                                  Selected References

                                                                                  1. Fry AE et al: The genetics of lissencephaly. Am J Med Genet C Semin Med Genet. 166C(2):198-210, 2014
                                                                                  2. Bahi-Buisson N et al: New insights into genotype-phenotype correlations for the doublecortin-related lissencephaly spectrum. Brain. 136(Pt 1):223-44, 2013
                                                                                  3. Okumura A et al: Lissencephaly with marked ventricular dilation, agenesis of corpus callosum, and cerebellar hypoplasia caused by TUBA1A mutation. Brain Dev. 35(3):274-9, 2013
                                                                                  4. Poduri A et al: Somatic mutation, genomic variation, and neurological disease. Science. 341(6141):1237758, 2013
                                                                                  5. Poirier K et al: Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly. Nat Genet. 2013 Jun;45(6):639-47. Epub 2013 Apr 21. Erratum in: Nat Genet. 45(8):962, 2013
                                                                                  6. Toba S et al: A unique role of dynein and nud family proteins in corticogenesis. Neuropathology. 32(4):432-9, 2012
                                                                                  7. Alkuraya FS et al: Human mutations in NDE1 cause extreme microcephaly with lissencephaly [corrected]. Am J Hum Genet. 2011 May 13;88(5):536-47. Epub 2011 Apr 28. Erratum in: Am J Hum Genet. 88(5):677, 2011
                                                                                  8. Jansen AC et al: TUBA1A mutations: from isolated lissencephaly to familial polymicrogyria. Neurology. 76(11):988-92, 2011
                                                                                  9. Morris-Rosendahl DJ et al: Refining the phenotype of alpha-1a Tubulin (TUBA1A) mutation in patients with classical lissencephaly. Clin Genet. 74(5):425-33, 2008
                                                                                  10. Reiner O et al: Lissencephaly 1 linking to multiple diseases: mental retardation, neurodegeneration, schizophrenia, male sterility, and more. Neuromolecular Med. 8(4):547-65, 2006
                                                                                  11. Sicca F et al: Mosaic mutations of the LIS1 gene cause subcortical band heterotopia. Neurology. 61(8):1042-6, 2003
                                                                                  12. Barkovich AJ et al: Classification system for malformations of cortical development: update 2001. Neurology. 57(12):2168-78, 2001
                                                                                  13. Pfund Z et al: Lissencephaly: fetal pattern of glucose metabolism on positron emission tomography? Neurology. 55(11):1683-8, 2000
                                                                                  14. Pilz DT et al: Subcortical band heterotopia in rare affected males can be caused by missense mutations in DCX (XLIS) or LIS1. Hum Mol Genet. 8(9):1757-60, 1999