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Pediatrics
Diagnosis
Pediatric Neuroradiology
Brain
Pathology-Based Diagnoses
Congenital Malformations
Disorders of Diverticulation/Cleavage
Commissural Abnormalities
Commissural Abnormalities
Luke L. Linscott, MD; Charles Raybaud, MD, FRCPC
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KEY FACTS

  • Terminology

    • Imaging

      • Pathology

        • Clinical Issues

          • Diagnostic Checklist

            TERMINOLOGY

            • Abbreviations

              • Agenesis/dysgenesis corpus callosum (ACC)

            • Synonyms

              • Callosal agenesis/dysgenesis, commissural agenesis/dysgenesis

            • Definitions

              • Partial or complete absence of corpus callosum (CC), hippocampal commissure (HC), or anterior commissure (AC)

            IMAGING

            • General Features

              • CT Findings

                • MR Findings

                  • Ultrasonographic Findings

                    • Imaging Recommendations

                      DIFFERENTIAL DIAGNOSIS

                        PATHOLOGY

                        • General Features

                          • Staging, Grading, & Classification

                            • Gross Pathologic & Surgical Features

                              CLINICAL ISSUES

                              • Presentation

                                • Demographics

                                  • Natural History & Prognosis

                                    DIAGNOSTIC CHECKLIST

                                    • Consider

                                      • Image Interpretation Pearls

                                        Selected References

                                        1. 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
                                        2. Leombroni M et al: Fetal midline anomalies: diagnosis and counselling part 1: corpus callosum anomalies. Eur J Paediatr Neurol. 22(6):951-62, 2018
                                        3. Jarre A et al: Value of brain MRI when sonography raises suspicion of agenesis of the corpus callosum in fetuses. Radiologia. 59(3):226-31, 2017
                                        4. Yang E et al: A practical approach to supratentorial brain malformations: what radiologists should know. Radiol Clin North Am. 55(4):609-27, 2017
                                        5. Edwards TJ et al: Clinical, genetic and imaging findings identify new causes for corpus callosum development syndromes. Brain. 137(Pt 6):1579-613, 2014
                                        6. Lau YC et al: Autism traits in individuals with agenesis of the corpus callosum. J Autism Dev Disord. 43(5):1106-18, 2013
                                        7. Owen JP et al: The structural connectome of the human brain in agenesis of the corpus callosum. Neuroimage. 70:340-55, 2013
                                        8. Santo S et al: Counseling in fetal medicine: agenesis of the corpus callosum. Ultrasound Obstet Gynecol. 40(5):513-21, 2012
                                        9. Vasudevan C et al: Long-term outcome of antenatally diagnosed agenesis of corpus callosum and cerebellar malformations. Semin Fetal Neonatal Med. 17(5):295-300, 2012
                                        10. Hopkins B et al: Neuroimaging aspects of Aicardi syndrome. Am J Med Genet A. 146A(22):2871-8, 2008
                                        11. Miller E et al: The old and the new: supratentorial MR findings in Chiari II malformation. Childs Nerv Syst. 24(5):563-75, 2008
                                        12. Lee SK et al: Diffusion tensor MR imaging visualizes the altered hemispheric fiber connection in callosal dysgenesis. AJNR Am J Neuroradiol. 25(1):25-8, 2004
                                        13. Küker W et al: Malformations of the midline commissures: MRI findings in different forms of callosal dysgenesis. Eur Radiol. 13(3):598-604, 2003
                                        14. Moutard ML et al: Agenesis of corpus callosum: prenatal diagnosis and prognosis. Childs Nerv Syst. 19(7-8):471-6, 2003
                                        15. Sato N et al: MR evaluation of the hippocampus in patients with congenital malformations of the brain. AJNR Am J Neuroradiol. 22(2):389-93, 2001
                                        16. Giedd JN et al: Development of the human corpus callosum during childhood and adolescence: a longitudinal MRI study. Prog Neuropsychopharmacol Biol Psychiatry. 23(4):571-88, 1999
                                        17. Pirola B et al: Agenesis of the corpus callosum with Probst bundles owing to haploinsufficiency for a gene in an 8 cM region of 6q25. J Med Genet. 35(12):1031-3, 1998
                                        18. Kier EL et al: The lamina rostralis: modification of concepts concerning the anatomy, embryology, and MR appearance of the rostrum of the corpus callosum. AJNR Am J Neuroradiol. 18(4):715-22, 1997
                                        19. Dobyns WB: Absence makes the search grow longer. Am J Hum Genet. 58(1):7-16, 1996
                                        20. Kier EL et al: The normal and abnormal genu of the corpus callosum: an evolutionary, embryologic, anatomic, and MR analysis. AJNR Am J Neuroradiol. 17(9):1631-41, 1996
                                        21. Pujol J et al: When does human brain development end? Evidence of corpus callosum growth up to adulthood. Ann Neurol. 34(1):71-5, 1993
                                        Related Anatomy
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                                        Related Differential Diagnoses
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                                        References
                                        Tables

                                        Tables

                                        KEY FACTS

                                        • Terminology

                                          • Imaging

                                            • Pathology

                                              • Clinical Issues

                                                • Diagnostic Checklist

                                                  TERMINOLOGY

                                                  • Abbreviations

                                                    • Agenesis/dysgenesis corpus callosum (ACC)

                                                  • Synonyms

                                                    • Callosal agenesis/dysgenesis, commissural agenesis/dysgenesis

                                                  • Definitions

                                                    • Partial or complete absence of corpus callosum (CC), hippocampal commissure (HC), or anterior commissure (AC)

                                                  IMAGING

                                                  • General Features

                                                    • CT Findings

                                                      • MR Findings

                                                        • Ultrasonographic Findings

                                                          • Imaging Recommendations

                                                            DIFFERENTIAL DIAGNOSIS

                                                              PATHOLOGY

                                                              • General Features

                                                                • Staging, Grading, & Classification

                                                                  • Gross Pathologic & Surgical Features

                                                                    CLINICAL ISSUES

                                                                    • Presentation

                                                                      • Demographics

                                                                        • Natural History & Prognosis

                                                                          DIAGNOSTIC CHECKLIST

                                                                          • Consider

                                                                            • Image Interpretation Pearls

                                                                              Selected References

                                                                              1. 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
                                                                              2. Leombroni M et al: Fetal midline anomalies: diagnosis and counselling part 1: corpus callosum anomalies. Eur J Paediatr Neurol. 22(6):951-62, 2018
                                                                              3. Jarre A et al: Value of brain MRI when sonography raises suspicion of agenesis of the corpus callosum in fetuses. Radiologia. 59(3):226-31, 2017
                                                                              4. Yang E et al: A practical approach to supratentorial brain malformations: what radiologists should know. Radiol Clin North Am. 55(4):609-27, 2017
                                                                              5. Edwards TJ et al: Clinical, genetic and imaging findings identify new causes for corpus callosum development syndromes. Brain. 137(Pt 6):1579-613, 2014
                                                                              6. Lau YC et al: Autism traits in individuals with agenesis of the corpus callosum. J Autism Dev Disord. 43(5):1106-18, 2013
                                                                              7. Owen JP et al: The structural connectome of the human brain in agenesis of the corpus callosum. Neuroimage. 70:340-55, 2013
                                                                              8. Santo S et al: Counseling in fetal medicine: agenesis of the corpus callosum. Ultrasound Obstet Gynecol. 40(5):513-21, 2012
                                                                              9. Vasudevan C et al: Long-term outcome of antenatally diagnosed agenesis of corpus callosum and cerebellar malformations. Semin Fetal Neonatal Med. 17(5):295-300, 2012
                                                                              10. Hopkins B et al: Neuroimaging aspects of Aicardi syndrome. Am J Med Genet A. 146A(22):2871-8, 2008
                                                                              11. Miller E et al: The old and the new: supratentorial MR findings in Chiari II malformation. Childs Nerv Syst. 24(5):563-75, 2008
                                                                              12. Lee SK et al: Diffusion tensor MR imaging visualizes the altered hemispheric fiber connection in callosal dysgenesis. AJNR Am J Neuroradiol. 25(1):25-8, 2004
                                                                              13. Küker W et al: Malformations of the midline commissures: MRI findings in different forms of callosal dysgenesis. Eur Radiol. 13(3):598-604, 2003
                                                                              14. Moutard ML et al: Agenesis of corpus callosum: prenatal diagnosis and prognosis. Childs Nerv Syst. 19(7-8):471-6, 2003
                                                                              15. Sato N et al: MR evaluation of the hippocampus in patients with congenital malformations of the brain. AJNR Am J Neuroradiol. 22(2):389-93, 2001
                                                                              16. Giedd JN et al: Development of the human corpus callosum during childhood and adolescence: a longitudinal MRI study. Prog Neuropsychopharmacol Biol Psychiatry. 23(4):571-88, 1999
                                                                              17. Pirola B et al: Agenesis of the corpus callosum with Probst bundles owing to haploinsufficiency for a gene in an 8 cM region of 6q25. J Med Genet. 35(12):1031-3, 1998
                                                                              18. Kier EL et al: The lamina rostralis: modification of concepts concerning the anatomy, embryology, and MR appearance of the rostrum of the corpus callosum. AJNR Am J Neuroradiol. 18(4):715-22, 1997
                                                                              19. Dobyns WB: Absence makes the search grow longer. Am J Hum Genet. 58(1):7-16, 1996
                                                                              20. Kier EL et al: The normal and abnormal genu of the corpus callosum: an evolutionary, embryologic, anatomic, and MR analysis. AJNR Am J Neuroradiol. 17(9):1631-41, 1996
                                                                              21. Pujol J et al: When does human brain development end? Evidence of corpus callosum growth up to adulthood. Ann Neurol. 34(1):71-5, 1993