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Agenesis/Dysgenesis of the Corpus Callosum
Karen Y. Oh, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          • Clinical Issues

            • Diagnostic Checklist

              TERMINOLOGY

              • Abbreviations

                • Agenesis of corpus callosum (ACC)
              • Definitions

                • Failure of axons to cross midline and form corpus callosum (CC)
                  • Agenesis: Complete absence of CC
                  • Hypogenesis: Partial or incomplete formation of CC
                    • More common than dysgenesis
                  • Dysgenesis: Defective development of CC (e.g., callosal abnormalities seen in holoprosencephaly)

              IMAGING

              • General Features

                • Ultrasonographic Findings

                  • MR Findings

                    • Imaging Recommendations

                      DIFFERENTIAL DIAGNOSIS

                        PATHOLOGY

                        • General Features

                          • Gross Pathologic & Surgical Features

                            CLINICAL ISSUES

                            • Presentation

                              • Demographics

                                • Natural History & Prognosis

                                  • Treatment

                                    DIAGNOSTIC CHECKLIST

                                    • Consider

                                      • Image Interpretation Pearls

                                        Selected References

                                        1. Craven I et al: Antenatal diagnosis of agenesis of the corpus callosum. Clin Radiol. 70(3):248-53, 2015
                                        2. Rüland AM et al: Prenatal diagnosis of anomalies of the corpus callosum over a 13-year period. Ultraschall Med. ePub, 2015
                                        3. Noguchi R et al: Outcomes of patients with prenatally diagnosed agenesis of the corpus callosum in conjunction with ventriculomegaly. Arch Gynecol Obstet. 290(2):237-42, 2014
                                        4. Paladini D et al: Agenesis of the fetal corpus callosum: sonographic signs change with advancing gestational age. Ultrasound Obstet Gynecol. 42(6):687-90, 2013
                                        5. Santo S et al: Counseling in fetal medicine: agenesis of the corpus callosum. Ultrasound Obstet Gynecol. 40(5):513-21, 2012
                                        6. Ghi T et al: Prenatal diagnosis and outcome of partial agenesis and hypoplasia of the corpus callosum. Ultrasound Obstet Gynecol. 35(1):35-41, 2010
                                        7. Hosny IA et al: Ultrafast MRI of the fetus: an increasingly important tool in prenatal diagnosis of congenital anomalies. Magn Reson Imaging. Epub ahead of print, 2010
                                        8. Winter TC et al: The cavum septi pellucidi: why is it important? J Ultrasound Med. 29(3):427-44, 2010
                                        9. Barkovich AJ et al: Congenital malformations of the brain and skull. In Pediatric Neuroimaging 5th edition. Philadelphia: Lippincott Williams and Wilkins. 367-568, 2012
                                        10. Glenn OA et al: Fetal magnetic resonance imaging in the evaluation of fetuses referred for sonographically suspected abnormalities of the corpus callosum. J Ultrasound Med. 24(6):791-804, 2005
                                        11. Blaicher W et al: Magnetic resonance imaging in foetuses with bilateral moderate ventriculomegaly and suspected anomaly of the corpus callosum on ultrasound scan. Ultraschall Med. 24(4):255-60, 2003
                                        12. Weinstein AS et al: In utero disappearance of the corpus callosum secondary to extensive brain injury. J Ultrasound Med. 22(8):837-40, 2003
                                        13. Goodyear PW et al: Outcome in prenatally diagnosed fetal agenesis of the corpus callosum. Fetal Diagn Ther. 16(3):139-45, 2001
                                        14. d'Ercole C et al: Prenatal diagnosis of fetal corpus callosum agenesis by ultrasonography and magnetic resonance imaging. Prenat Diagn. 18(3):247-53, 1998
                                        15. Bennett GL et al: Agenesis of the corpus callosum: prenatal detection usually is not possible before 22 weeks of gestation. Radiology. 199(2):447-50, 1996
                                        16. Filly RA et al: Fetal ventricle: importance in routine obstetric sonography. Radiology. 181(1):1-7, 1991
                                        17. Barkovich AJ et al: Anomalies of the corpus callosum: correlation with further anomalies of the brain. AJR Am J Roentgenol. 151(1):171-9, 1988
                                        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

                                                    • Abbreviations

                                                      • Agenesis of corpus callosum (ACC)
                                                    • Definitions

                                                      • Failure of axons to cross midline and form corpus callosum (CC)
                                                        • Agenesis: Complete absence of CC
                                                        • Hypogenesis: Partial or incomplete formation of CC
                                                          • More common than dysgenesis
                                                        • Dysgenesis: Defective development of CC (e.g., callosal abnormalities seen in holoprosencephaly)

                                                    IMAGING

                                                    • General Features

                                                      • Ultrasonographic Findings

                                                        • MR Findings

                                                          • Imaging Recommendations

                                                            DIFFERENTIAL DIAGNOSIS

                                                              PATHOLOGY

                                                              • General Features

                                                                • Gross Pathologic & Surgical Features

                                                                  CLINICAL ISSUES

                                                                  • Presentation

                                                                    • Demographics

                                                                      • Natural History & Prognosis

                                                                        • Treatment

                                                                          DIAGNOSTIC CHECKLIST

                                                                          • Consider

                                                                            • Image Interpretation Pearls

                                                                              Selected References

                                                                              1. Craven I et al: Antenatal diagnosis of agenesis of the corpus callosum. Clin Radiol. 70(3):248-53, 2015
                                                                              2. Rüland AM et al: Prenatal diagnosis of anomalies of the corpus callosum over a 13-year period. Ultraschall Med. ePub, 2015
                                                                              3. Noguchi R et al: Outcomes of patients with prenatally diagnosed agenesis of the corpus callosum in conjunction with ventriculomegaly. Arch Gynecol Obstet. 290(2):237-42, 2014
                                                                              4. Paladini D et al: Agenesis of the fetal corpus callosum: sonographic signs change with advancing gestational age. Ultrasound Obstet Gynecol. 42(6):687-90, 2013
                                                                              5. Santo S et al: Counseling in fetal medicine: agenesis of the corpus callosum. Ultrasound Obstet Gynecol. 40(5):513-21, 2012
                                                                              6. Ghi T et al: Prenatal diagnosis and outcome of partial agenesis and hypoplasia of the corpus callosum. Ultrasound Obstet Gynecol. 35(1):35-41, 2010
                                                                              7. Hosny IA et al: Ultrafast MRI of the fetus: an increasingly important tool in prenatal diagnosis of congenital anomalies. Magn Reson Imaging. Epub ahead of print, 2010
                                                                              8. Winter TC et al: The cavum septi pellucidi: why is it important? J Ultrasound Med. 29(3):427-44, 2010
                                                                              9. Barkovich AJ et al: Congenital malformations of the brain and skull. In Pediatric Neuroimaging 5th edition. Philadelphia: Lippincott Williams and Wilkins. 367-568, 2012
                                                                              10. Glenn OA et al: Fetal magnetic resonance imaging in the evaluation of fetuses referred for sonographically suspected abnormalities of the corpus callosum. J Ultrasound Med. 24(6):791-804, 2005
                                                                              11. Blaicher W et al: Magnetic resonance imaging in foetuses with bilateral moderate ventriculomegaly and suspected anomaly of the corpus callosum on ultrasound scan. Ultraschall Med. 24(4):255-60, 2003
                                                                              12. Weinstein AS et al: In utero disappearance of the corpus callosum secondary to extensive brain injury. J Ultrasound Med. 22(8):837-40, 2003
                                                                              13. Goodyear PW et al: Outcome in prenatally diagnosed fetal agenesis of the corpus callosum. Fetal Diagn Ther. 16(3):139-45, 2001
                                                                              14. d'Ercole C et al: Prenatal diagnosis of fetal corpus callosum agenesis by ultrasonography and magnetic resonance imaging. Prenat Diagn. 18(3):247-53, 1998
                                                                              15. Bennett GL et al: Agenesis of the corpus callosum: prenatal detection usually is not possible before 22 weeks of gestation. Radiology. 199(2):447-50, 1996
                                                                              16. Filly RA et al: Fetal ventricle: importance in routine obstetric sonography. Radiology. 181(1):1-7, 1991
                                                                              17. Barkovich AJ et al: Anomalies of the corpus callosum: correlation with further anomalies of the brain. AJR Am J Roentgenol. 151(1):171-9, 1988