link
Bookmarks
Agenesis/Dysgenesis of the Corpus Callosum
Emily Edwards, MD; Paula J. Woodward, MD
To access 4,300 diagnoses written by the world's leading experts in radiology.Try it free - 15 days
1
33
2
3

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: Abnormal 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. Stoll C et al: Associated anomalies in cases with agenesis of the corpus callosum. Am J Med Genet A. 179(10):2101-11, 2019
                                        2. des Portes V et al: Outcome of isolated agenesis of the corpus callosum: a population-based prospective study. Eur J Paediatr Neurol. 22(1):82-92, 2018
                                        3. Manevich-Mazor M et al: Added value of fetal MRI in the evaluation of fetal anomalies of the corpus callosum: a retrospective analysis of 78 cases. Ultraschall Med. 39(5):513-25, 2018
                                        4. Griffiths PD et al: Use of MRI in the diagnosis of fetal brain abnormalities in utero (MERIDIAN): a multicentre, prospective cohort study. Lancet. 389(10068):538-546, 2017
                                        5. Rüland AM et al: Prenatal diagnosis of anomalies of the corpus callosum over a 13-year period. Ultraschall Med. 37(6):598-603, 2016
                                        6. Craven I et al: Antenatal diagnosis of agenesis of the corpus callosum. Clin Radiol. 70(3):248-53, 2015
                                        7. 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
                                        8. 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
                                        9. Santo S et al: Counseling in fetal medicine: agenesis of the corpus callosum. Ultrasound Obstet Gynecol. 40(5):513-21, 2012
                                        10. 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
                                        11. Hosny IA et al: Ultrafast MRI of the fetus: an increasingly important tool in prenatal diagnosis of congenital anomalies. Magn Reson Imaging. 28(10):1431-9, 2010
                                        12. Winter TC et al: The cavum septi pellucidi: why is it important? J Ultrasound Med. 29(3):427-44, 2010
                                        13. 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
                                        14. Weinstein AS et al: In utero disappearance of the corpus callosum secondary to extensive brain injury. J Ultrasound Med. 22(8):837-40, 2003
                                        Related Anatomy
                                        Loading...
                                        Related Differential Diagnoses
                                        Loading...
                                        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: Abnormal 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. Stoll C et al: Associated anomalies in cases with agenesis of the corpus callosum. Am J Med Genet A. 179(10):2101-11, 2019
                                                                              2. des Portes V et al: Outcome of isolated agenesis of the corpus callosum: a population-based prospective study. Eur J Paediatr Neurol. 22(1):82-92, 2018
                                                                              3. Manevich-Mazor M et al: Added value of fetal MRI in the evaluation of fetal anomalies of the corpus callosum: a retrospective analysis of 78 cases. Ultraschall Med. 39(5):513-25, 2018
                                                                              4. Griffiths PD et al: Use of MRI in the diagnosis of fetal brain abnormalities in utero (MERIDIAN): a multicentre, prospective cohort study. Lancet. 389(10068):538-546, 2017
                                                                              5. Rüland AM et al: Prenatal diagnosis of anomalies of the corpus callosum over a 13-year period. Ultraschall Med. 37(6):598-603, 2016
                                                                              6. Craven I et al: Antenatal diagnosis of agenesis of the corpus callosum. Clin Radiol. 70(3):248-53, 2015
                                                                              7. 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
                                                                              8. 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
                                                                              9. Santo S et al: Counseling in fetal medicine: agenesis of the corpus callosum. Ultrasound Obstet Gynecol. 40(5):513-21, 2012
                                                                              10. 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
                                                                              11. Hosny IA et al: Ultrafast MRI of the fetus: an increasingly important tool in prenatal diagnosis of congenital anomalies. Magn Reson Imaging. 28(10):1431-9, 2010
                                                                              12. Winter TC et al: The cavum septi pellucidi: why is it important? J Ultrasound Med. 29(3):427-44, 2010
                                                                              13. 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
                                                                              14. Weinstein AS et al: In utero disappearance of the corpus callosum secondary to extensive brain injury. J Ultrasound Med. 22(8):837-40, 2003