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Lissencephaly
Usha D. Nagaraj, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          • Clinical Issues

            TERMINOLOGY

            • Definitions

              • Spectrum of cortical malformation caused by arrested or ↓ transmantle neuronal migration
                • Agyria, pachygyria, & subcortical band heterotopia
              • Most updated classification is based on combination of involved stage of neuronal migration & genetic information
                • Tubulinopathies: Secondary to genetic mutations coding microtubule-associated proteins (MAPs: DCX, LIS1) or tubulins (TUBA & TUBB groups)
                  • Includes classic (a.k.a. type I) lissencephalies: Thick 4-layer cortex with cell-sparse zone
                • Variant lissencephalies: ARX & RELN mutations
                  • Variable cortical thickness with no cell-sparse zone
              • Abnormalities of neuronal proliferation (microlissencephaly, microcephaly with simplified gyral pattern, megalencephalies) & dystroglycanopathies (cobblestone malformations, previously type II lissencephaly) are described in separate categories
                • However, there is phenotypic & genetic overlap with congenital microcephaly & tubulinopathies

            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

                                  • Treatment

                                    DIAGNOSTIC CHECKLIST

                                    • Consider

                                      • Image Interpretation Pearls

                                        • Reporting Tips

                                          Selected References

                                          1. Kolbjer S et al: Lissencephaly in an epilepsy cohort: molecular, radiological and clinical aspects. Eur J Paediatr Neurol. 30:71-81, 2021
                                          2. Lerman-Sagie T et al: A practical approach to prenatal diagnosis of malformations of cortical development. Eur J Paediatr Neurol. 34:50-61, 2021
                                          3. Di Donato N et al: Lissencephaly: expanded imaging and clinical classification. Am J Med Genet A. 173(6):1473-88, 2017
                                          4. Desikan RS et al: Malformations of cortical development. Ann Neurol. 80(6):797-810, 2016
                                          5. Barkovich AJ et al: Malformations of cortical development and epilepsy. Cold Spring Harb Perspect Med. 5(5):a022392, 2015
                                          6. Kato M: Genotype-phenotype correlation in neuronal migration disorders and cortical dysplasias. Front Neurosci. 9:181, 2015
                                          7. Fry AE et al: The genetics of lissencephaly. Am J Med Genet C Semin Med Genet. 166C(2):198-210, 2014
                                          8. Bahi-Buisson N et al: New insights into genotype-phenotype correlations for the doublecortin-related lissencephaly spectrum. Brain. 136(Pt 1):223-44, 2013
                                          9. Barkovich AJ et al: Pediatric Neuroimaging. 6th ed. Wolters Kluwer. 460-71, 2019
                                          10. Barkovich AJ et al: A developmental and genetic classification for malformations of cortical development: update 2012. Brain. 135(Pt 5):1348-69, 2012
                                          11. Toba S et al: A unique role of dynein and nud family proteins in corticogenesis. Neuropathology. 32(4):432-9, 2012
                                          12. 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
                                          13. Jansen AC et al: TUBA1A mutations: from isolated lissencephaly to familial polymicrogyria. Neurology. 76(11):988-92, 2011
                                          14. Abdel Razek AA et al: Disorders of cortical formation: MR imaging features. AJNR Am J Neuroradiol. 30(1):4-11, 2009
                                          15. 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
                                          16. Pfund Z et al: Lissencephaly: fetal pattern of glucose metabolism on positron emission tomography? Neurology. 55(11):1683-8, 2000
                                          Related Anatomy
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                                          Related Differential Diagnoses
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                                          References
                                          Tables

                                          Tables

                                          KEY FACTS

                                          • Terminology

                                            • Imaging

                                              • Top Differential Diagnoses

                                                • Pathology

                                                  • Clinical Issues

                                                    TERMINOLOGY

                                                    • Definitions

                                                      • Spectrum of cortical malformation caused by arrested or ↓ transmantle neuronal migration
                                                        • Agyria, pachygyria, & subcortical band heterotopia
                                                      • Most updated classification is based on combination of involved stage of neuronal migration & genetic information
                                                        • Tubulinopathies: Secondary to genetic mutations coding microtubule-associated proteins (MAPs: DCX, LIS1) or tubulins (TUBA & TUBB groups)
                                                          • Includes classic (a.k.a. type I) lissencephalies: Thick 4-layer cortex with cell-sparse zone
                                                        • Variant lissencephalies: ARX & RELN mutations
                                                          • Variable cortical thickness with no cell-sparse zone
                                                      • Abnormalities of neuronal proliferation (microlissencephaly, microcephaly with simplified gyral pattern, megalencephalies) & dystroglycanopathies (cobblestone malformations, previously type II lissencephaly) are described in separate categories
                                                        • However, there is phenotypic & genetic overlap with congenital microcephaly & tubulinopathies

                                                    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

                                                                          • Treatment

                                                                            DIAGNOSTIC CHECKLIST

                                                                            • Consider

                                                                              • Image Interpretation Pearls

                                                                                • Reporting Tips

                                                                                  Selected References

                                                                                  1. Kolbjer S et al: Lissencephaly in an epilepsy cohort: molecular, radiological and clinical aspects. Eur J Paediatr Neurol. 30:71-81, 2021
                                                                                  2. Lerman-Sagie T et al: A practical approach to prenatal diagnosis of malformations of cortical development. Eur J Paediatr Neurol. 34:50-61, 2021
                                                                                  3. Di Donato N et al: Lissencephaly: expanded imaging and clinical classification. Am J Med Genet A. 173(6):1473-88, 2017
                                                                                  4. Desikan RS et al: Malformations of cortical development. Ann Neurol. 80(6):797-810, 2016
                                                                                  5. Barkovich AJ et al: Malformations of cortical development and epilepsy. Cold Spring Harb Perspect Med. 5(5):a022392, 2015
                                                                                  6. Kato M: Genotype-phenotype correlation in neuronal migration disorders and cortical dysplasias. Front Neurosci. 9:181, 2015
                                                                                  7. Fry AE et al: The genetics of lissencephaly. Am J Med Genet C Semin Med Genet. 166C(2):198-210, 2014
                                                                                  8. Bahi-Buisson N et al: New insights into genotype-phenotype correlations for the doublecortin-related lissencephaly spectrum. Brain. 136(Pt 1):223-44, 2013
                                                                                  9. Barkovich AJ et al: Pediatric Neuroimaging. 6th ed. Wolters Kluwer. 460-71, 2019
                                                                                  10. Barkovich AJ et al: A developmental and genetic classification for malformations of cortical development: update 2012. Brain. 135(Pt 5):1348-69, 2012
                                                                                  11. Toba S et al: A unique role of dynein and nud family proteins in corticogenesis. Neuropathology. 32(4):432-9, 2012
                                                                                  12. 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
                                                                                  13. Jansen AC et al: TUBA1A mutations: from isolated lissencephaly to familial polymicrogyria. Neurology. 76(11):988-92, 2011
                                                                                  14. Abdel Razek AA et al: Disorders of cortical formation: MR imaging features. AJNR Am J Neuroradiol. 30(1):4-11, 2009
                                                                                  15. 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
                                                                                  16. Pfund Z et al: Lissencephaly: fetal pattern of glucose metabolism on positron emission tomography? Neurology. 55(11):1683-8, 2000