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Pachygyria, Polymicrogyria
Anne Kennedy, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Clinical Issues

          TERMINOLOGY

          • Definitions

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

          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. Eid M et al: Further insights into developmental brain malformations and leukoencephalopathy associated with 6p25.3 deletion. Neuropediatrics. 51(1):76-82, 2020
                              2. Lennox AL et al: Pathogenic DDX3X mutations impair RNA metabolism and neurogenesis during fetal cortical development. Neuron. 106(3):404-20.e8, 2020
                              3. Reghunath A et al: A journey through formation and malformations of the neo-cortex. Childs Nerv Syst. 36(1):27-38, 2020
                              4. Schiller S et al: Inborn errors of metabolism leading to neuronal migration defects. J Inherit Metab Dis. 43(1):145-55, 2020
                              5. Treit S et al: Radiological findings on structural magnetic resonance imaging in fetal alcohol spectrum disorders and healthy controls. Alcohol Clin Exp Res. 44(2):455-62, 2020
                              6. Amrom D et al: Duplication 2p16 is associated with perisylvian polymicrogyria. Am J Med Genet A. 179(12):2343-56, 2019
                              7. Chatron N et al: A novel lethal recognizable polymicrogyric syndrome caused by ATP1A2 homozygous truncating variants. Brain. 142(11):3367-74, 2019
                              8. Wang H et al: De novo mutated TUBB2B associated pachygyria diagnosed by medical exome sequencing and long-range PCR. Fetal Pediatr Pathol. 38(1):63-71, 2019
                              9. Guillemette-Artur P et al: Prenatal brain MRI of fetuses with Zika virus infection. Pediatr Radiol. 46(7):1032-9, 2016
                              10. Pirot N et al: Phenotypic and neuropathological characterization of fetal pyruvate dehydrogenase deficiency. J Neuropathol Exp Neurol. 75(3):227-38, 2016
                              11. 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
                              12. Squier W et al: Polymicrogyria: pathology, fetal origins and mechanisms. Acta Neuropathol Commun. 2:80, 2014
                              13. De Keersmaecker B et al: Prenatal diagnosis of MPPH syndrome. Prenat Diagn. 33(3):292-5, 2013
                              Related Anatomy
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                              Related Differential Diagnoses
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                              References
                              Tables

                              Tables

                              KEY FACTS

                              • Terminology

                                • Imaging

                                  • Top Differential Diagnoses

                                    • Clinical Issues

                                      TERMINOLOGY

                                      • Definitions

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

                                      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. Eid M et al: Further insights into developmental brain malformations and leukoencephalopathy associated with 6p25.3 deletion. Neuropediatrics. 51(1):76-82, 2020
                                                          2. Lennox AL et al: Pathogenic DDX3X mutations impair RNA metabolism and neurogenesis during fetal cortical development. Neuron. 106(3):404-20.e8, 2020
                                                          3. Reghunath A et al: A journey through formation and malformations of the neo-cortex. Childs Nerv Syst. 36(1):27-38, 2020
                                                          4. Schiller S et al: Inborn errors of metabolism leading to neuronal migration defects. J Inherit Metab Dis. 43(1):145-55, 2020
                                                          5. Treit S et al: Radiological findings on structural magnetic resonance imaging in fetal alcohol spectrum disorders and healthy controls. Alcohol Clin Exp Res. 44(2):455-62, 2020
                                                          6. Amrom D et al: Duplication 2p16 is associated with perisylvian polymicrogyria. Am J Med Genet A. 179(12):2343-56, 2019
                                                          7. Chatron N et al: A novel lethal recognizable polymicrogyric syndrome caused by ATP1A2 homozygous truncating variants. Brain. 142(11):3367-74, 2019
                                                          8. Wang H et al: De novo mutated TUBB2B associated pachygyria diagnosed by medical exome sequencing and long-range PCR. Fetal Pediatr Pathol. 38(1):63-71, 2019
                                                          9. Guillemette-Artur P et al: Prenatal brain MRI of fetuses with Zika virus infection. Pediatr Radiol. 46(7):1032-9, 2016
                                                          10. Pirot N et al: Phenotypic and neuropathological characterization of fetal pyruvate dehydrogenase deficiency. J Neuropathol Exp Neurol. 75(3):227-38, 2016
                                                          11. 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
                                                          12. Squier W et al: Polymicrogyria: pathology, fetal origins and mechanisms. Acta Neuropathol Commun. 2:80, 2014
                                                          13. De Keersmaecker B et al: Prenatal diagnosis of MPPH syndrome. Prenat Diagn. 33(3):292-5, 2013