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Lissencephaly
Anne Kennedy, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          • Clinical Issues

            • Diagnostic Checklist

              TERMINOLOGY

              • Definitions

                • Lissencephaly: Failure of cortical formation due to abnormal neuronal migration, resulting in abnormally smooth brain surface
                  • Agyria: No gyri on brain surface, thick cortex
                    • Postnatal definition: Sulci > 3 cm apart
                  • Pachygyria: Broad, flattened gyri, thick cortex
                    • Postnatal definition: Abnormally wide gyri with sulci 1.5-3 cm apart
                  • Polymicrogyria: Many small gyri
                  • Cobblestone lissencephaly: Fine, diffusely nodular, cortical surface
                  • Subcortical band heterotopia (SBH): Layer of heterotopic gray matter embedded in subcortical white matter
                    • Postnatal definition: Bands of gray matter deep to cortex, separated from it by thin layer of normal white matter
                • Microlissencephaly: Combination of lissencephaly and severe congenital microcephaly

              IMAGING

              • Ultrasonographic Findings

                • MR Findings

                  • Imaging Recommendations

                    DIFFERENTIAL DIAGNOSIS

                      PATHOLOGY

                      • General Features

                        • Classification Systems

                          CLINICAL ISSUES

                          • Demographics

                            • Natural History & Prognosis

                              • Treatment

                                DIAGNOSTIC CHECKLIST

                                • Image Interpretation Pearls

                                  • Reporting Tips

                                    Selected References

                                    1. Aiken J et al: TUBA1A mutations identified in lissencephaly patients dominantly disrupt neuronal migration and impair dynein activity. Hum Mol Genet. 28(8):1227-43, 2019
                                    2. Mitani T et al: Bi-allelic pathogenic variants in TUBGCP2 cause microcephaly and lissencephaly spectrum disorders. Am J Hum Genet. 105(5):1005-15, 2019
                                    3. Shi CH et al: Identification of a novel PAFAH1B1 missense mutation as a cause of mild lissencephaly with basal ganglia calcification. Brain Dev. 41(1):29-35, 2019
                                    4. Romaniello R et al: Tubulin genes and malformations of cortical development. Eur J Med Genet. 61(12):744-54, 2018
                                    5. Di Donato N et al: Lissencephaly: expanded imaging and clinical classification. Am J Med Genet A. 173(6):1473-88, 2017
                                    6. Williams F et al: In utero MR imaging in fetuses at high risk of lissencephaly. Br J Radiol. 90(1072):20160902, 2017
                                    7. Lacalm A et al: Prenatal diagnosis of cobblestone lissencephaly associated with Walker-Warburg syndrome based on a specific sonographic pattern. Ultrasound Obstet Gynecol. 47(1):117-22, 2016
                                    8. Lerman-Sagie T et al: Malformations of cortical development: from postnatal to fetal imaging. Can J Neurol Sci. 43(5):611-8, 2016
                                    9. Fallet-Bianco C et al: Mutations in tubulin genes are frequent causes of various foetal malformations of cortical development including microlissencephaly. Acta Neuropathol Commun. 2:69, 2014
                                    10. Fry AE et al: The genetics of lissencephaly. Am J Med Genet C Semin Med Genet. 166C(2):198-210, 2014
                                    11. Viñals F et al: Anterior and posterior complex: a step forward towards improving neurosonographic screening of midline and cortical anomalies. Ultrasound Obstet Gynecol. 46(5):585-94, 2014
                                    12. Vinurel N et al: Distortion of the anterior part of the interhemispheric fissure: significance and implications for prenatal diagnosis. Ultrasound Obstet Gynecol. 43(3):346-52, 2014
                                    13. Alves CM et al: Reference ranges for fetal brain fissure development on 3-dimensional sonography in the multiplanar mode. J Ultrasound Med. 32(2):269-77, 2013
                                    14. Righini A et al: Bilateral cavitations of ganglionic eminence: a fetal MR imaging sign of halted brain development. AJNR Am J Neuroradiol. 34(9):1841-5, 2013
                                    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

                                              • Diagnostic Checklist

                                                TERMINOLOGY

                                                • Definitions

                                                  • Lissencephaly: Failure of cortical formation due to abnormal neuronal migration, resulting in abnormally smooth brain surface
                                                    • Agyria: No gyri on brain surface, thick cortex
                                                      • Postnatal definition: Sulci > 3 cm apart
                                                    • Pachygyria: Broad, flattened gyri, thick cortex
                                                      • Postnatal definition: Abnormally wide gyri with sulci 1.5-3 cm apart
                                                    • Polymicrogyria: Many small gyri
                                                    • Cobblestone lissencephaly: Fine, diffusely nodular, cortical surface
                                                    • Subcortical band heterotopia (SBH): Layer of heterotopic gray matter embedded in subcortical white matter
                                                      • Postnatal definition: Bands of gray matter deep to cortex, separated from it by thin layer of normal white matter
                                                  • Microlissencephaly: Combination of lissencephaly and severe congenital microcephaly

                                                IMAGING

                                                • Ultrasonographic Findings

                                                  • MR Findings

                                                    • Imaging Recommendations

                                                      DIFFERENTIAL DIAGNOSIS

                                                        PATHOLOGY

                                                        • General Features

                                                          • Classification Systems

                                                            CLINICAL ISSUES

                                                            • Demographics

                                                              • Natural History & Prognosis

                                                                • Treatment

                                                                  DIAGNOSTIC CHECKLIST

                                                                  • Image Interpretation Pearls

                                                                    • Reporting Tips

                                                                      Selected References

                                                                      1. Aiken J et al: TUBA1A mutations identified in lissencephaly patients dominantly disrupt neuronal migration and impair dynein activity. Hum Mol Genet. 28(8):1227-43, 2019
                                                                      2. Mitani T et al: Bi-allelic pathogenic variants in TUBGCP2 cause microcephaly and lissencephaly spectrum disorders. Am J Hum Genet. 105(5):1005-15, 2019
                                                                      3. Shi CH et al: Identification of a novel PAFAH1B1 missense mutation as a cause of mild lissencephaly with basal ganglia calcification. Brain Dev. 41(1):29-35, 2019
                                                                      4. Romaniello R et al: Tubulin genes and malformations of cortical development. Eur J Med Genet. 61(12):744-54, 2018
                                                                      5. Di Donato N et al: Lissencephaly: expanded imaging and clinical classification. Am J Med Genet A. 173(6):1473-88, 2017
                                                                      6. Williams F et al: In utero MR imaging in fetuses at high risk of lissencephaly. Br J Radiol. 90(1072):20160902, 2017
                                                                      7. Lacalm A et al: Prenatal diagnosis of cobblestone lissencephaly associated with Walker-Warburg syndrome based on a specific sonographic pattern. Ultrasound Obstet Gynecol. 47(1):117-22, 2016
                                                                      8. Lerman-Sagie T et al: Malformations of cortical development: from postnatal to fetal imaging. Can J Neurol Sci. 43(5):611-8, 2016
                                                                      9. Fallet-Bianco C et al: Mutations in tubulin genes are frequent causes of various foetal malformations of cortical development including microlissencephaly. Acta Neuropathol Commun. 2:69, 2014
                                                                      10. Fry AE et al: The genetics of lissencephaly. Am J Med Genet C Semin Med Genet. 166C(2):198-210, 2014
                                                                      11. Viñals F et al: Anterior and posterior complex: a step forward towards improving neurosonographic screening of midline and cortical anomalies. Ultrasound Obstet Gynecol. 46(5):585-94, 2014
                                                                      12. Vinurel N et al: Distortion of the anterior part of the interhemispheric fissure: significance and implications for prenatal diagnosis. Ultrasound Obstet Gynecol. 43(3):346-52, 2014
                                                                      13. Alves CM et al: Reference ranges for fetal brain fissure development on 3-dimensional sonography in the multiplanar mode. J Ultrasound Med. 32(2):269-77, 2013
                                                                      14. Righini A et al: Bilateral cavitations of ganglionic eminence: a fetal MR imaging sign of halted brain development. AJNR Am J Neuroradiol. 34(9):1841-5, 2013