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Lissencephaly
Luke L. Linscott, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          • Clinical Issues

            TERMINOLOGY

            • Definitions

              • Extensive cortical malformation caused by slow or arrested neuronal migration; results in abnormally thick 4-layer cortex with smooth cerebral surface
              • Many clinical & imaging phenotypes due to numerous underlying genetic mutations
                • Classical/type I lissencephaly
                  • Spectrum from complete agyria to pachygyria
                    • Regions of both types often present; may have regions of normal cerebrum
                  • Overlap with gray matter (GM) band heterotopia (BH)
                    • Isolated BH: Mildest form of classical lissencephaly
                • Lissencephaly syndromes with various other CNS &/or non-CNS anomalies

            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. Kato M: Genotype-phenotype correlation in neuronal migration disorders and cortical dysplasias. Front Neurosci. 9:181, 2015
                                          2. Fry AE et al: The genetics of lissencephaly. Am J Med Genet C Semin Med Genet. 166C(2):198-210, 2014
                                          3. Bahi-Buisson N et al: New insights into genotype-phenotype correlations for the doublecortin-related lissencephaly spectrum. Brain. 136(Pt 1):223-44, 2013
                                          4. Barkovich AJ et al: Pediatric Neuroimaging. 5th ed. Philadelphia: Lippincott Williams & Wilkins. 419-429, 2012
                                          5. Toba S et al: A unique role of dynein and nud family proteins in corticogenesis. Neuropathology. 32(4):432-9, 2012
                                          6. 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
                                          7. Jansen AC et al: TUBA1A mutations: from isolated lissencephaly to familial polymicrogyria. Neurology. 76(11):988-92, 2011
                                          8. Abdel Razek AA et al: Disorders of cortical formation: MR imaging features. AJNR Am J Neuroradiol. 30(1):4-11, 2009
                                          9. 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
                                          10. 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

                                                      • Extensive cortical malformation caused by slow or arrested neuronal migration; results in abnormally thick 4-layer cortex with smooth cerebral surface
                                                      • Many clinical & imaging phenotypes due to numerous underlying genetic mutations
                                                        • Classical/type I lissencephaly
                                                          • Spectrum from complete agyria to pachygyria
                                                            • Regions of both types often present; may have regions of normal cerebrum
                                                          • Overlap with gray matter (GM) band heterotopia (BH)
                                                            • Isolated BH: Mildest form of classical lissencephaly
                                                        • Lissencephaly syndromes with various other CNS &/or non-CNS anomalies

                                                    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. Kato M: Genotype-phenotype correlation in neuronal migration disorders and cortical dysplasias. Front Neurosci. 9:181, 2015
                                                                                  2. Fry AE et al: The genetics of lissencephaly. Am J Med Genet C Semin Med Genet. 166C(2):198-210, 2014
                                                                                  3. Bahi-Buisson N et al: New insights into genotype-phenotype correlations for the doublecortin-related lissencephaly spectrum. Brain. 136(Pt 1):223-44, 2013
                                                                                  4. Barkovich AJ et al: Pediatric Neuroimaging. 5th ed. Philadelphia: Lippincott Williams & Wilkins. 419-429, 2012
                                                                                  5. Toba S et al: A unique role of dynein and nud family proteins in corticogenesis. Neuropathology. 32(4):432-9, 2012
                                                                                  6. 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
                                                                                  7. Jansen AC et al: TUBA1A mutations: from isolated lissencephaly to familial polymicrogyria. Neurology. 76(11):988-92, 2011
                                                                                  8. Abdel Razek AA et al: Disorders of cortical formation: MR imaging features. AJNR Am J Neuroradiol. 30(1):4-11, 2009
                                                                                  9. 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
                                                                                  10. Pfund Z et al: Lissencephaly: fetal pattern of glucose metabolism on positron emission tomography? Neurology. 55(11):1683-8, 2000