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Pachygyria, Polymicrogyria
Anne M. Kennedy, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Clinical Issues

          • Diagnostic Checklist

            TERMINOLOGY

            • Definitions

              • Pachygyria: Broad, flattened appearance to compared to normal gyri, thickened cortex
              • Polymicrogyria: Many small gyri (multiple, excessive small convolutions
                • Broadest definition includes any abnormal folding or festooning (undulation) of 1 or more cortical layers
              • Pachygyria and polygyria often occur together

            IMAGING

            • Ultrasonographic Findings

              • MR Findings

                DIFFERENTIAL DIAGNOSIS

                  PATHOLOGY

                  • General Features

                    • Gross Pathologic & Surgical Features

                      CLINICAL ISSUES

                      • Presentation

                        • Demographics

                          • Natural History & Prognosis

                            • Treatment

                              DIAGNOSTIC CHECKLIST

                              • Consider

                                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. Squier W et al: Polymicrogyria: pathology, fetal origins and mechanisms. Acta Neuropathol Commun. 2:80, 2014
                                3. Bahi-Buisson N et al: Diffuse malformations of cortical development. Handb Clin Neurol. 111:653-65, 2013
                                4. De Keersmaecker B et al: Prenatal diagnosis of MPPH syndrome. Prenat Diagn. 33(3):292-5, 2013
                                5. Itoh K et al: Brain malformation with loss of normal FGFR3 expression in thanatophoric dysplasia type I. Neuropathology. 33(6):663-6, 2013
                                6. Valence S et al: Homozygous truncating mutation of the KBP gene, encoding a KIF1B-binding protein, in a familial case of fetal polymicrogyria. Neurogenetics. 14(3-4):215-24, 2013
                                7. Courtier J et al: Polymicrogyria in a fetus with human parvovirus B19 infection: a case with radiologic-pathologic correlation. Ultrasound Obstet Gynecol. 40(5):604-6, 2012
                                8. Jaglin XH et al: Mutations in the beta-tubulin gene TUBB2B result in asymmetrical polymicrogyria. Nat Genet. 41(6):746-52, 2009
                                9. Tang PH et al: Agenesis of the corpus callosum: an MR imaging analysis of associated abnormalities in the fetus. AJNR Am J Neuroradiol. 30(2):257-63, 2009
                                10. Jelin AC et al: Intracranial magnetic resonance imaging findings in the surviving fetus after spontaneous monochorionic cotwin demise. Am J Obstet Gynecol. 199(4):398.e1-5, 2008
                                11. Pistorius LR et al: Disturbance of cerebral neuronal migration following congenital parvovirus B19 infection. Fetal Diagn Ther. 24(4):491-4, 2008
                                12. Cantagrel V et al: Truncation of NHEJ1 in a patient with polymicrogyria. Hum Mutat. 28(4):356-64, 2007
                                13. Mittelbronn M et al: Multiple thromboembolic events in fetofetal transfusion syndrome in triplets contributing to the understanding of pathogenesis of hydranencephaly in combination with polymicrogyria. Hum Pathol. 37(11):1503-7, 2006
                                14. Simonazzi G et al: Accurate neurosonographic prediction of brain injury in the surviving fetus after the death of a monochorionic cotwin. Ultrasound Obstet Gynecol. 27(5):517-21, 2006
                                15. Fogliarini C et al: Assessment of cortical maturation with prenatal MRI: part II: abnormalities of cortical maturation. Eur Radiol. 15(9):1781-9, 2005
                                16. Parazzini C et al: Frontal bilateral megalencephaly: fetal and autopsy MR evaluation of an unclassified malformation. Prenat Diagn. 25(6):489-91, 2005
                                17. Delle Urban LA et al: Prenatal ultrasound detection of bilateral focal polymicrogyria. Prenat Diagn. 24(10):808-11, 2004
                                18. Kammoun F et al: Club feet with congenital perisylvian polymicrogyria possibly due to bifocal ischemic damage of the neuraxis in utero. Am J Med Genet A. 126A(2):191-6, 2004
                                19. Righini A et al: Early prenatal MR imaging diagnosis of polymicrogyria. AJNR Am J Neuroradiol. 25(2):343-6, 2004
                                20. Montenegro MA et al: Interrelationship of genetics and prenatal injury in the genesis of malformations of cortical development. Arch Neurol. 59(7):1147-53, 2002
                                21. Mancini J et al: Brain injuries in early foetal life: consequences for brain development. Dev Med Child Neurol. 43(1):52-5, 2001
                                22. Brodtkorb E et al: Is monochorionic twinning a risk factor for focal cortical dysgenesis? Acta Neurol Scand. 102(1):53-9, 2000
                                23. Lee BC et al: MR imaging surface display of the cerebral cortex in children. Pediatr Radiol. 27(3):199-206, 1997
                                24. Baker EM et al: Arthrogryposis multiplex congenita and bilateral parietal polymicrogyria in association with the intrauterine death of a twin. Neuropediatrics. 27(1):54-6, 1996
                                25. Hayward JC et al: Lissencephaly-pachygyria associated with congenital cytomegalovirus infection. J Child Neurol. 6(2):109-14, 1991
                                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

                                            • Pachygyria: Broad, flattened appearance to compared to normal gyri, thickened cortex
                                            • Polymicrogyria: Many small gyri (multiple, excessive small convolutions
                                              • Broadest definition includes any abnormal folding or festooning (undulation) of 1 or more cortical layers
                                            • Pachygyria and polygyria often occur together

                                          IMAGING

                                          • Ultrasonographic Findings

                                            • MR Findings

                                              DIFFERENTIAL DIAGNOSIS

                                                PATHOLOGY

                                                • General Features

                                                  • Gross Pathologic & Surgical Features

                                                    CLINICAL ISSUES

                                                    • Presentation

                                                      • Demographics

                                                        • Natural History & Prognosis

                                                          • Treatment

                                                            DIAGNOSTIC CHECKLIST

                                                            • Consider

                                                              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. Squier W et al: Polymicrogyria: pathology, fetal origins and mechanisms. Acta Neuropathol Commun. 2:80, 2014
                                                              3. Bahi-Buisson N et al: Diffuse malformations of cortical development. Handb Clin Neurol. 111:653-65, 2013
                                                              4. De Keersmaecker B et al: Prenatal diagnosis of MPPH syndrome. Prenat Diagn. 33(3):292-5, 2013
                                                              5. Itoh K et al: Brain malformation with loss of normal FGFR3 expression in thanatophoric dysplasia type I. Neuropathology. 33(6):663-6, 2013
                                                              6. Valence S et al: Homozygous truncating mutation of the KBP gene, encoding a KIF1B-binding protein, in a familial case of fetal polymicrogyria. Neurogenetics. 14(3-4):215-24, 2013
                                                              7. Courtier J et al: Polymicrogyria in a fetus with human parvovirus B19 infection: a case with radiologic-pathologic correlation. Ultrasound Obstet Gynecol. 40(5):604-6, 2012
                                                              8. Jaglin XH et al: Mutations in the beta-tubulin gene TUBB2B result in asymmetrical polymicrogyria. Nat Genet. 41(6):746-52, 2009
                                                              9. Tang PH et al: Agenesis of the corpus callosum: an MR imaging analysis of associated abnormalities in the fetus. AJNR Am J Neuroradiol. 30(2):257-63, 2009
                                                              10. Jelin AC et al: Intracranial magnetic resonance imaging findings in the surviving fetus after spontaneous monochorionic cotwin demise. Am J Obstet Gynecol. 199(4):398.e1-5, 2008
                                                              11. Pistorius LR et al: Disturbance of cerebral neuronal migration following congenital parvovirus B19 infection. Fetal Diagn Ther. 24(4):491-4, 2008
                                                              12. Cantagrel V et al: Truncation of NHEJ1 in a patient with polymicrogyria. Hum Mutat. 28(4):356-64, 2007
                                                              13. Mittelbronn M et al: Multiple thromboembolic events in fetofetal transfusion syndrome in triplets contributing to the understanding of pathogenesis of hydranencephaly in combination with polymicrogyria. Hum Pathol. 37(11):1503-7, 2006
                                                              14. Simonazzi G et al: Accurate neurosonographic prediction of brain injury in the surviving fetus after the death of a monochorionic cotwin. Ultrasound Obstet Gynecol. 27(5):517-21, 2006
                                                              15. Fogliarini C et al: Assessment of cortical maturation with prenatal MRI: part II: abnormalities of cortical maturation. Eur Radiol. 15(9):1781-9, 2005
                                                              16. Parazzini C et al: Frontal bilateral megalencephaly: fetal and autopsy MR evaluation of an unclassified malformation. Prenat Diagn. 25(6):489-91, 2005
                                                              17. Delle Urban LA et al: Prenatal ultrasound detection of bilateral focal polymicrogyria. Prenat Diagn. 24(10):808-11, 2004
                                                              18. Kammoun F et al: Club feet with congenital perisylvian polymicrogyria possibly due to bifocal ischemic damage of the neuraxis in utero. Am J Med Genet A. 126A(2):191-6, 2004
                                                              19. Righini A et al: Early prenatal MR imaging diagnosis of polymicrogyria. AJNR Am J Neuroradiol. 25(2):343-6, 2004
                                                              20. Montenegro MA et al: Interrelationship of genetics and prenatal injury in the genesis of malformations of cortical development. Arch Neurol. 59(7):1147-53, 2002
                                                              21. Mancini J et al: Brain injuries in early foetal life: consequences for brain development. Dev Med Child Neurol. 43(1):52-5, 2001
                                                              22. Brodtkorb E et al: Is monochorionic twinning a risk factor for focal cortical dysgenesis? Acta Neurol Scand. 102(1):53-9, 2000
                                                              23. Lee BC et al: MR imaging surface display of the cerebral cortex in children. Pediatr Radiol. 27(3):199-206, 1997
                                                              24. Baker EM et al: Arthrogryposis multiplex congenita and bilateral parietal polymicrogyria in association with the intrauterine death of a twin. Neuropediatrics. 27(1):54-6, 1996
                                                              25. Hayward JC et al: Lissencephaly-pachygyria associated with congenital cytomegalovirus infection. J Child Neurol. 6(2):109-14, 1991