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Lissencephaly
Anne M. Kennedy, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Clinical Issues

          • Diagnostic Checklist

            TERMINOLOGY

            • Definitions

              • Lissencephaly: Abnormally smooth brain surface; isolated or as part of specific syndrome
                • Agyria: Most severe form with no gyri on brain surface, thick cortex
                • Pachygyria: Abnormally broad, flattened gyri, thick cortex
                • Polymicrogyria: Many small gyri
                • Cobblestone lissencephaly: Fine, diffusely nodular, cortical surface due to neuronal overmigration
                • Subcortical band heterotopia: Layer of heterotopic gray matter embedded in subcortical white matter

            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. 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
                                  2. Fry AE et al: The genetics of lissencephaly. Am J Med Genet C Semin Med Genet. 166C(2):198-210, 2014
                                  3. 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
                                  4. 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
                                  5. 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
                                  6. 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
                                  7. Miguelote RF et al: Cortical maturation in fetuses referred for 'isolated' mild ventriculomegaly: a longitudinal ultrasound assessment. Prenat Diagn. 32(13):1273-81, 2012
                                  8. Pugash D et al: Sonographic assessment of normal and abnormal patterns of fetal cerebral lamination. Ultrasound Obstet Gynecol. 40(6):642-51, 2012
                                  9. Aslan H et al: Prenatal diagnosis of lissencephaly: a case report. J Clin Ultrasound. 37(4):245-8, 2009
                                  10. Lin CY et al: Prenatal diagnosis of monosomy 17p (17p13.3-->pter) associated with polyhydramnios, intrauterine growth restriction, ventriculomegaly, and Miller-Dieker lissencephaly syndrome in a fetus. Taiwan J Obstet Gynecol. 48(4):408-11, 2009
                                  11. Monteagudo A et al: Normal sonographic development of the central nervous system from the second trimester onwards using 2D, 3D and transvaginal sonography. Prenat Diagn. 29(4):326-39, 2009
                                  12. Guibaud L et al: Abnormal Sylvian fissure on prenatal cerebral imaging: significance and correlation with neuropathological and postnatal data. Ultrasound Obstet Gynecol. 32(1):50-60, 2008
                                  13. Lerman-Sagie T et al: Focus on the fetal Sylvian fissure. Ultrasound Obstet Gynecol. 32(1):3-4, 2008
                                  14. Quarello E et al: Assessment of fetal Sylvian fissure operculization between 22 and 32 weeks: a subjective approach. Ultrasound Obstet Gynecol. 32(1):44-9, 2008
                                  15. Cohen-Sacher B et al: Sonographic developmental milestones of the fetal cerebral cortex: a longitudinal study. Ultrasound Obstet Gynecol. 27(5):494-502, 2006
                                  16. Ghai S et al: Prenatal US and MR imaging findings of lissencephaly: review of fetal cerebral sulcal development. Radiographics. 26(2):389-405, 2006
                                  17. Prayer D et al: MRI of normal fetal brain development. Eur J Radiol. 57(2):199-216, 2006
                                  18. Fogliarini C et al: Assessment of cortical maturation with prenatal MRI: part II: abnormalities of cortical maturation. Eur Radiol. 15(9):1781-9, 2005
                                  19. Toi A et al: How early are fetal cerebral sulci visible at prenatal ultrasound and what is the normal pattern of early fetal sulcal development? Ultrasound Obstet Gynecol. 24(7):706-15, 2004
                                  Related Anatomy
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                                  Related Differential Diagnoses
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                                  References
                                  Tables

                                  Tables

                                  KEY FACTS

                                  • Terminology

                                    • Imaging

                                      • Top Differential Diagnoses

                                        • Clinical Issues

                                          • Diagnostic Checklist

                                            TERMINOLOGY

                                            • Definitions

                                              • Lissencephaly: Abnormally smooth brain surface; isolated or as part of specific syndrome
                                                • Agyria: Most severe form with no gyri on brain surface, thick cortex
                                                • Pachygyria: Abnormally broad, flattened gyri, thick cortex
                                                • Polymicrogyria: Many small gyri
                                                • Cobblestone lissencephaly: Fine, diffusely nodular, cortical surface due to neuronal overmigration
                                                • Subcortical band heterotopia: Layer of heterotopic gray matter embedded in subcortical white matter

                                            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. 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
                                                                  2. Fry AE et al: The genetics of lissencephaly. Am J Med Genet C Semin Med Genet. 166C(2):198-210, 2014
                                                                  3. 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
                                                                  4. 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
                                                                  5. 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
                                                                  6. 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
                                                                  7. Miguelote RF et al: Cortical maturation in fetuses referred for 'isolated' mild ventriculomegaly: a longitudinal ultrasound assessment. Prenat Diagn. 32(13):1273-81, 2012
                                                                  8. Pugash D et al: Sonographic assessment of normal and abnormal patterns of fetal cerebral lamination. Ultrasound Obstet Gynecol. 40(6):642-51, 2012
                                                                  9. Aslan H et al: Prenatal diagnosis of lissencephaly: a case report. J Clin Ultrasound. 37(4):245-8, 2009
                                                                  10. Lin CY et al: Prenatal diagnosis of monosomy 17p (17p13.3-->pter) associated with polyhydramnios, intrauterine growth restriction, ventriculomegaly, and Miller-Dieker lissencephaly syndrome in a fetus. Taiwan J Obstet Gynecol. 48(4):408-11, 2009
                                                                  11. Monteagudo A et al: Normal sonographic development of the central nervous system from the second trimester onwards using 2D, 3D and transvaginal sonography. Prenat Diagn. 29(4):326-39, 2009
                                                                  12. Guibaud L et al: Abnormal Sylvian fissure on prenatal cerebral imaging: significance and correlation with neuropathological and postnatal data. Ultrasound Obstet Gynecol. 32(1):50-60, 2008
                                                                  13. Lerman-Sagie T et al: Focus on the fetal Sylvian fissure. Ultrasound Obstet Gynecol. 32(1):3-4, 2008
                                                                  14. Quarello E et al: Assessment of fetal Sylvian fissure operculization between 22 and 32 weeks: a subjective approach. Ultrasound Obstet Gynecol. 32(1):44-9, 2008
                                                                  15. Cohen-Sacher B et al: Sonographic developmental milestones of the fetal cerebral cortex: a longitudinal study. Ultrasound Obstet Gynecol. 27(5):494-502, 2006
                                                                  16. Ghai S et al: Prenatal US and MR imaging findings of lissencephaly: review of fetal cerebral sulcal development. Radiographics. 26(2):389-405, 2006
                                                                  17. Prayer D et al: MRI of normal fetal brain development. Eur J Radiol. 57(2):199-216, 2006
                                                                  18. Fogliarini C et al: Assessment of cortical maturation with prenatal MRI: part II: abnormalities of cortical maturation. Eur Radiol. 15(9):1781-9, 2005
                                                                  19. Toi A et al: How early are fetal cerebral sulci visible at prenatal ultrasound and what is the normal pattern of early fetal sulcal development? Ultrasound Obstet Gynecol. 24(7):706-15, 2004