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Callosal Dysgenesis
Charles Raybaud, MD, FRCPC; Anne G. Osborn, MD, FACR
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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); can be isolated or associated with additional cerebral malformations
              • Spectrum of congenital CC structural abnormalities
                • Total agenesis (absence from birth of all anatomically defined regions of CC)
                • Partial agenesis (absence from birth of at least 1, but not all, regions of CC)
                • Hypoplasia (thinner CC with normal anteroposterior extent)
                • Hyperplasia (thick CC resulting from decreased postnatal axonal pruning)
                • Dysgenesis (CC present but malformed in some way, including partial ACC and hypoplasia of CC)

            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. Craven I et al: Antenatal diagnosis of agenesis of the corpus callosum. Clin Radiol. 70(3):248-53, 2015
                                        2. Edwards TJ et al: Clinical, genetic and imaging findings identify new causes for corpus callosum development syndromes. Brain. 137(Pt 6):1579-1613, 2014
                                        3. Palmer EE et al: Agenesis of the corpus callosum: a clinical approach to diagnosis. Am J Med Genet C Semin Med Genet. 166C(2):184-97, 2014
                                        4. Lau YC et al: Autism traits in individuals with agenesis of the corpus callosum. J Autism Dev Disord. 43(5):1106-18, 2013
                                        5. Owen JP et al: The structural connectome of the human brain in agenesis of the corpus callosum. Neuroimage. 70:340-55, 2013
                                        6. Santo S et al: Counseling in fetal medicine: agenesis of the corpus callosum. Ultrasound Obstet Gynecol. 40(5):513-21, 2012
                                        7. 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
                                        8. Hopkins B et al: Neuroimaging aspects of Aicardi syndrome. Am J Med Genet A. 146A(22):2871-8, 2008
                                        9. 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
                                        10. Küker W et al: Malformations of the midline commissures: MRI findings in different forms of callosal dysgenesis. Eur Radiol. 13(3):598-604, 2003
                                        11. Moutard ML et al: Agenesis of corpus callosum: prenatal diagnosis and prognosis. Childs Nerv Syst. 19(7-8):471-6, 2003
                                        12. 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
                                        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); can be isolated or associated with additional cerebral malformations
                                                    • Spectrum of congenital CC structural abnormalities
                                                      • Total agenesis (absence from birth of all anatomically defined regions of CC)
                                                      • Partial agenesis (absence from birth of at least 1, but not all, regions of CC)
                                                      • Hypoplasia (thinner CC with normal anteroposterior extent)
                                                      • Hyperplasia (thick CC resulting from decreased postnatal axonal pruning)
                                                      • Dysgenesis (CC present but malformed in some way, including partial ACC and hypoplasia of CC)

                                                  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. Craven I et al: Antenatal diagnosis of agenesis of the corpus callosum. Clin Radiol. 70(3):248-53, 2015
                                                                              2. Edwards TJ et al: Clinical, genetic and imaging findings identify new causes for corpus callosum development syndromes. Brain. 137(Pt 6):1579-1613, 2014
                                                                              3. Palmer EE et al: Agenesis of the corpus callosum: a clinical approach to diagnosis. Am J Med Genet C Semin Med Genet. 166C(2):184-97, 2014
                                                                              4. Lau YC et al: Autism traits in individuals with agenesis of the corpus callosum. J Autism Dev Disord. 43(5):1106-18, 2013
                                                                              5. Owen JP et al: The structural connectome of the human brain in agenesis of the corpus callosum. Neuroimage. 70:340-55, 2013
                                                                              6. Santo S et al: Counseling in fetal medicine: agenesis of the corpus callosum. Ultrasound Obstet Gynecol. 40(5):513-21, 2012
                                                                              7. 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
                                                                              8. Hopkins B et al: Neuroimaging aspects of Aicardi syndrome. Am J Med Genet A. 146A(22):2871-8, 2008
                                                                              9. 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
                                                                              10. Küker W et al: Malformations of the midline commissures: MRI findings in different forms of callosal dysgenesis. Eur Radiol. 13(3):598-604, 2003
                                                                              11. Moutard ML et al: Agenesis of corpus callosum: prenatal diagnosis and prognosis. Childs Nerv Syst. 19(7-8):471-6, 2003
                                                                              12. 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